European Human Genetics Conference 2007 June 16 – 19, 2007 ...

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Genetic counselling, education, genetic services, and public policy privately such as in the USA, for instance. Since 2004, a screening program has been set up in a well-defined population of Tehran, Iran’s capital. Based on our experiments earned from referral/follow-up system within PHC, we designed 2 distinctive and comprehensive programs for the urban and rural areas. We therefore proposed following 3 phases: 1-Mobilizing and organizing the community to active participation; 2-Implementation, 3-Assessment the program. Conclusion: As a general condition of Iran, population of 68 millions, population age distribution mean which is 23 years, high rate of consanguinity, strength of national PHC, general public demand, and the human rights may direct us to offer a national extraordinary health services including genomic services. This pilot survey may lead us to achieve valuable results; however, further studies are required to reach a comprehensive model. P1361. Implementation of the Swiss Federal Law of Human Genetic Analysis M. C. Rebsamen 1 , I. Filges 1 , C. Benedetti 2 , M. A. Morris 1 ; 1 Molecular Diagnostic Laboratory, Service of Genetic Medicine, Geneva University Hospital, Geneva, Switzerland, 2 Federal Office of Public Health, Berne, Switzerland. The new Swiss Federal Law of Human Genetic Analysis (LAGH), applicable from April 2007, fixes the legal framework for prescribing and performing non-research genetic tests in humans. In the era of constantly-increasing genetic knowledge and of rapidly progressing laboratory techniques, the LAGH is designed to protect human dignity, prevent abuses and ensure a high standard of testing. We will focus principally on the medical application of the Law, which also encompasses testing in legal, workplace and insurance contexts including DNA profiling for investigating parentage and for identification purposes in civil and administrative proceedings. Non-directive genetic counselling and respect of the patient’s right to autodetermination is required and the conditions are described in detail in the text of the Law. Informed consent is required before performing any genetic testing, and must be obtained in writing before tests for presymptomatic, prenatal and “family planning” (reproductive choice) purposes. Prescription of genetic tests is restricted to medical doctors and, in prenatal or presymptomatic settings, to those with specific competence in genetic counselling. Licensing to perform molecular or cytogenetic testing is obligatory. The accompanying Ordinance on Human Genetic Analysis defines the criteria for the minimum acceptable standard of quality management, including the competence of the laboratory director and personnel, EQA and quality assurance requirements comparable to the ISO 15189 standard. The obligations defined by the LAGH are closely based on pre-existing national and international standards and practices, yet Switzerland is one of the first countries in the World to transfer these into law. P1362. Medical genetic service of Leningrad province: 2003-2005 years I. A. Ivanov1,2 , M. O. Mkheidze2 ; 1 2 District Children Hospital, St.Petersburg, Russian Federation, Medical Academy for postgraduate studying, St.Petersburg, Russian Federation. Medical genetics service is stationed at District Children Hospital. It works in close co-operation with the Department of Medical Genetics of the MAPS, Municipal Centre of Medical Genetics etc. Genetic service realized neonatal screening for PKU and CH, cytogenetic investigations for making diagnosis of chromosomal pathology (2840 samples), second trimester prenatal screening for congenital defects, double-test, (18000 pregnant women); confirmation of hereditary diagnosis, medical care, long term inpatient and outpatient care, dietary management, genetic counseling. 36589 of newborns(98,65%) were examined through neonatal screening. Five cases of PKU and five cases of CH were diagnosed. Cohort of children with PKU (23 cases) and with CH (46 cases) has special dietary and medicinal treatment. Ultrasound investigation was performed for pregnant women (25821of examinations). 225 of the fetuses were found to have congenital malformations. 160 of pregnancies were interrupted owing to congenital malformations or chromosomal diseases of the fetuses. P1363. Sequencing and MLPA under diagnostic rules D. du Sart; Molecular Genetics Laboratory, Victorian Clinical Genetics Services, Parkville, Victoria, Australia. The field of molecular genetics is innovative and dynamic, resulting in continual upgrading or improvement of technology. Molecular genetic diagnostics therefore needs to be responsive to this to bring new or improved technology into clinical management of patients and families, but in the context of strict regulation and control. In Australia, the National Pathology Accreditation Advisory Council (NPAAC), the body responsible for setting guidelines and standards for medical laboratory accreditation, have released standards for validation of in-house developed assays for use in diagnostic testing. The detailed requirements include full documentation of the design phase, the production phase, the technical validation phase and the monitoring phase. The design phase includes literature review and /or peer consultation process to identify alternatives and the experience of other as well as the clinical usefulness of the proposed assay. The production phase includes conforming to safety principals for patients and laboratory staff as well as assessment of the analytical performance and the clinical performance of the assay. The technical validation phase includes assessment of the assay sensitivity and specificity, measurement of uncertainty if applicable and medically relevant criteria. The monitoring phase includes assessment of the assay performance in internal QC, external QAP or sample exchanges with other laboratories. The presentation will encapsulate the above phases of validation for molecular genetic testing in hereditary nonpolyposis colorectal cancer (HNPCC), using a capillary sequencing assay to detect unknown sequence changes and the MLPA assay (multiplex ligation-dependent probe amplification) to detect intragenic or whole gene deletion mutations. P1364. Myotonic Dystrophy in Yakuts (Russian Federation) A. L. Sukhomyasova 1 , N. R. Maximova 2 ; 1 Republican Hospital No. 1 - National Center of Medicine, Yakutsk, Russian Federation, 2 Yakutsk Science Center of Russian Academy of Medical Sciences and the Government of the RS(Y), Yakutsk, Russian Federation. In the Republic of Sakha (Yakutia) among Yakuts (430 thousand people) we have documented a high prevalence of DM1, that is is 21,3 per 100 thousand. The purpose of this research was studying distribution among different ethinc groups, the clinical presentations of myotonic dystrophy and the distribution of the CTG-repeat in the indiginous populations of Yakutia. Two regions of accumulation of DM1 are established in the territories of Viluiskii and the Central group of uluses. In 35 Yakut families the classical form of myotonic dystrophy prevails (81,5 %), but we also encountered congenital and early childhood forms of the disease. The median age of patients with DM1 was 31,4±1,5 years, and the average age of onset was 16,8±1,1 years. The most common clinical presentations were, progressive muscular weakness, cardiovascular and endocrinological symptoms. Family studies revealed clinical variability and anticipation. We analysed the distribution of CTG-repeat alleles in the normal Yakut population(Federova et al., 2003) in the two main ethnic groups groups (Viluiskii, Central, Northern Yakuts - 192 individuals). We found 18 different allelic variants from 5 up to 29 CTG-repeats. The most common alleles had 12 and 13 repeats (combined prevalence 79 %). We found a low frequency (3-6 %) of unstable alleles with > 19 CTG repeats. We suggest that one of the reasons for the accumulation of DM1 in the Yakut population is a founder effect of these unstable alleles. This needs to be confirmed in further studies. A method of preventive maintenance of DM1 in Yakuts is to provide effective medical-genetic consultation with prenatal DNA-diagnostics. P1365. Implementing Personal Health Records for Neurofibromatosis Type 1 - Patients‘ and Health Care Professionals‘ Views and Experiences P. M. Griffiths 1 , S. Huson 1 , R. Abbott 1,2 , E. Howard 1 , J. Clayton-Smith 1 , K. Metcalfe 1 , G. Evans 1 , S. Harrison 1 , M. Kenney 1 , S. Collitt 1 , K. Strong 1 , B. Kerr 1 ; 1 Central Manchester and Manchester Children’s Hospitals NHS Trust, Manchester, United Kingdom, 2 The Neurofibromatosis Association, Kingston upon Thames, United Kingdom. Personal health records (PHRs) are client held records. As part of our Service Development Project, we have developed a PHR for children
Genetic counselling, education, genetic services, and public policy and adults with Neurofibromatosis Type 1 (Nf1). Nf1 is a relatively common autosomal dominant condition characterised by wide variability in its clinical expression. Birth incidence is about 1 in 3,000 which means there are approximately 164,000 affected individuals in the EU. The course of the disease is unpredictable and affected individuals carry a lifelong risk of developing serious complications. Fortunately, most people affected with Nf1 will have skin signs only, but there is still a need for vigilance particularly during the first five years, and also during adolescence, when the risks of developing specific types of complications are greater. Because of this, regular clinical reviews and targeted screenings are important in the management of these patients, and it is hoped that the PHR will facilitate this, particularly where there is a high disease burden and patients are under the care of several specialists. Nearly 200 PHRs have been issued to Nf1 patients attending clinics in Manchester, Liverpool and Newcastle. An evaluation exercise is underway which will look at the effectiveness of PHRs as clinical tools, and explore patients’ and health care professionals’ experiences using the records. This submission will present the results from this evaluation and will include feedback from a patient satisfaction survey, audit data regarding record use, and feedback from a questionnaire given to health care professionals working in a variety of roles and clinical specialities. P1366. Exploring existing and deliberated community perspectives of newborn screening in Australia to inform policy standards in newborn screening and the storage and use of dried blood spots K. K. Barlow-Stewart; Centre for Genetics Education, NSW Health, Sydney, Australia. Since the 1960s newborn screening (NBS) for several rare and serious disorders has been in place across Australia and testing now enables the early detection of over 30 conditions. Policies across Australian States have diverged in some aspects of NBS, especially in the retention and further use of the dried blood spots collected as part of the screening. To date there has been limited empirical evidence of wider community attitudes to inform the deliberations of health professionals and policy makers towards national consistency. Methodologies: Nine moderated small group discussions were held with 40 participants including young adults, recent parents and older parents. The groups were reconvened one week later for further discussion enabling considered deliberation of the issues raised and prompted by the stimulus materials provided. Results: The findings suggest that there is limited community awareness of the public health importance of NBS and that resulting biological samples are stored for varying periods in different Australian States. Members of the wider community presented with opportunities to consider current procedures and policies surrounding consent, storage and further use of the dried blood spots appear reassured and to have high levels of trust. However there are clearly some groups who have concerns with the storage of dried blood spot specimens and perceive that these may be abused. Conclusions: The findings are important for improving current communications about NBS, developing policies, maintaining public confidence and the development of State and National initiatives in genetic health. P1367. The overlapping area between Osteogenesis Imperfecta and child physical abuse: a bibliometric analysis. C. Ranzato 1 , M. Rosa Rizzotto 1 , E. Lenzini 2 , P. Facchin 1 ; 1 Epidemiology & Community Medicine Unit - Paediatric Department, Padova, Italy, 2 Molecular Cytogenetic Lab - Paediatric Department, Padova, Italy. Osteogenesis Imperfecta (OI) is a hereditary connective tissue disorder. Its manifestations are fragile bones, multiple bone fractures, bone deformities with a history of minimal or no trauma. This clinical picture may be observed in Child Physical Abuse (CPA). CPA is a relevant differential diagnosis when a child presents unexplained fractures. Aim is to quantify the weight and the trends of the worldwide literature on OI and CPA, in order to measure if and how the 2 topics overlap and are studied together. A retrospective bibliometric analysis was carried out. Through PubMed, literature was explored and 2 quoted phrases Osteogenesis Imperfecta (OI), Child Physical Abuse (CPA) were searched in all available manuscripts. Starting from retrieved papers, a descriptive analysis and a text mining search were performed (SAS software). Search retrieved 7,140 manuscripts, distributed per interval period (1950-2006) per each DB as follows: OI 48%, CPA 52%. English is the leading language of publication: OI 70%, CPA 93%. For both DBs, top Countries of publication are USA and UK. An overlapping area exists between OI & CPA: 70 manuscripts representing the 1% of the whole (1969-2006), written in English (84%) and published in the US and UK (45% and 29%). Further results on text mining search will follow. Results obtained show that English-written papers predominate and understanding English results fundamental to update oneself. The overlapping area is nearly absent despite the strong correlation of the two issues, it means that bibliographic search on CPA/differential diagnosis could be easily biased retrieving incomplete results, with the continuous risk of falling in a bibliographic cul-de-sac. P1368. Psychological effects of parenting stress on parents of Down Syndrome children A. Alpman 1 , T. Cankaya 1 , B. Durmaz 1 , A. Vahabi 2 , C. Gunduz 3 , O. Cogulu 1 , F. Ozkinay 1 ; 1 Ege University, Faculty of Medicine, Department of Pediatrics, Izmir, Turkey, 2 Ege University, Faculty of Medicine, Department of Medical Genetics, Izmir, Turkey, 3 Ege University, Faculty of Medicine, Department of Medical Biology, Izmir, Turkey. Down syndrome (DS) occuring in one out of 800 live births is the most frequent genetic cause of mental retardation and associated medical problems. Having a child with DS is an unexpected and stressful experience for most parents but they are the ones who have a key role to play in determining the extent of their child’s handicap. In addition to this, cultural and social aspects play a great role in determining the behaviors of the mother and the father; usually differ in a great variety. The aim of the study is to evaluate the social, economical and individual problems of the parents who have a child with DS by using a questionnaire designed by our group. The questionnaire consisted of 18 questions assessing the families’ characteristics, their relations with each other and the other people and their attitudes towards the DS child. We found out that DS children mostly spent their time by their mothers, and mothers reported higher levels of stress than fathers (p
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Volume 15 Supplement 1 June 2007 ww
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Table of Contents Spoken Presentati
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Plenary Lectures Plenary Lectures P
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Plenary Lectures labile iron can be
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Concurrent Symposia S07. Vertebrate
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Concurrent Symposia S17. Towards a
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Concurrent Symposia 11 at E13.5 sim
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Concurrent Symposia 1 phomagenesis.
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cover cryptic mutations in Drosophi
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Concurrent Sessions first excluded
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Concurrent Sessions of 210 ancestry
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Concurrent Sessions C23. Literature
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Concurrent Sessions a boy with a ty
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Concurrent Sessions C40. Mutation o
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Concurrent Sessions C48. CHROMSCAN:
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Concurrent Sessions C57. RNAi-based
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Concurrent Sessions been replicated
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Concurrent Sessions involved in an
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Concurrent Sessions tion considers
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Clinical genetics lateral neurosens
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Clinical genetics apparently sporad
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Clinical genetics itar syndrome, wh
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Clinical genetics diseases, Foundat
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Clinical genetics P0041. The first
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Clinical genetics EFNB1 was found t
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Clinical genetics of the CSB gene.
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Clinical genetics growth retardatio
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Clinical genetics PCR with a modifi
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Clinical genetics pound heterozygou
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Clinical genetics plicated: two cou
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Clinical genetics P0105. APC gene m
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Clinical genetics an indication of
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Clinical genetics great importance
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Clinical genetics P0133. Hidrotic e
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Clinical genetics eight patients as
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Clinical genetics P0152. Kabuki syn
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Clinical genetics P0161. Intrafamil
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Clinical genetics matter and normal
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Clinical genetics type at 550 bands
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Clinical genetics will be confirmed
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Clinical genetics nosed. Accurate r
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Clinical genetics which has not bee
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Clinical genetics P0217. Partial mo
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Clinical genetics fested progeroid
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Clinical genetics A 29 years old ma
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Clinical genetics ing loss (HHL). I
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Clinical genetics dació Son Llatze
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Clinical genetics These preliminary
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Clinical genetics P0272. Williams S
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Cytogenetics Po02. Cytogenetics P02
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Cytogenetics to reports from Saudi
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Cytogenetics P0298. Female-specific
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Cytogenetics P0306. Lipoatrophic pa
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Cytogenetics 22 leading to the form
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Cytogenetics somal sperm and that o
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Cytogenetics University of Belgrade
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Cytogenetics Within the same metaph
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Cytogenetics Less than 10 cases of
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Cytogenetics lar markers taken from
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Cytogenetics Brain Unaffected Schiz
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Cytogenetics ability with no speech
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Cytogenetics P0389. An age based cy
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Cytogenetics P0399. Molecular Chara
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Cytogenetics ing of complex examina
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Cytogenetics letion in 5q33 in all
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Cytogenetics and his son carried th
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Prenatal diagnosis tion about famil
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Prenatal diagnosis P0443. The risk
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Prenatal diagnosis in house PCR pro
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Prenatal diagnosis P0462. Increased
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Prenatal diagnosis P0471. Preimplan
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Prenatal diagnosis agreement with w
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Prenatal diagnosis of Turner Syndro
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Cancer genetics ously defined for d
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Cancer genetics Their frequencies w
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Cancer genetics tion Clinic-Portugu
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Cancer genetics tric carcinogenesis
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Cancer genetics P0532. Secondary ch
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Cancer genetics P0542. Differential
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Cancer genetics gastric cancer risk
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Cancer genetics ania, 3 The Institu
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Cancer genetics low: 8% (8/98 sampl
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Cancer genetics P0578. Somatic mito
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Cancer genetics P0587. Differential
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Cancer genetics cinoma (ESCC), whic
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Cancer genetics method to measure t
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Cancer genetics pression (compared
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Cancer genetics to available biolog
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Molecular and biochemical basis of
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Genetic analysis, linkage, and asso
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Page 287 and 288: Normal variation, population geneti
Page 309 and 310: Genomics, technology, bioinformatic
Page 327 and 328: Genetic counselling, education, gen
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Page 347 and 348: Therapy for genetic disease Po10. T
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Page 351 and 352: Therapy for genetic disease exon 7
Page 353 and 354: Author Index 1 Arslan-Krichner, M.:
Page 355 and 356: Author Index Borkowska, A.: P1089 B
Page 357 and 358: Author Index Coviello, D.: P0078, P
Page 359 and 360: Author Index Estivill, X.: P1216, P
Page 361 and 362: Author Index Graf, S. A.: P0021 Gra
Page 363 and 364: Author Index 1 Josifiova, D.: PL07
Page 365 and 366: Author Index Laurier, V.: C03 Lauri
Page 367 and 368: Author Index Melo, D. G.: P0260, P0
Page 369 and 370: Author Index Osorio, P.: P0218 Osta
Page 371 and 372: Author Index Reese, T.: C06 Regal,
Page 373 and 374: Author Index 1 Shaposhnikov, S.: P0
Page 375 and 376: Author Index Touitou, I.: P0733 Tou
Page 377 and 378: Author Index Xiao, C.: P1241 Xie, G
Page 379 and 380: Keyword Index ARMR: P0907 array CGH
Page 381 and 382: Keyword Index Consanguineous marria
Page 383 and 384: Keyword Index 1 Fronto-temporal dem
Page 385 and 386: Keyword Index IRF5: P1086 IRF6: P07
Page 387 and 388: Keyword Index NBS1 gene: P0567 NBS-
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Keyword Index P1085 Rep1: P1104 rep
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Keyword Index vision: P0632 Vitamin
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Notes 1
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A natural choice in Fabry Disease P
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European Human Genetics Conference 2007 June 16 – 19, 2007 ...

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