surditatea non-sindromica la copil
surditatea non-sindromica la copil
surditatea non-sindromica la copil
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INDICATORII DE REZULTAT REALIZATI IN CADRUL<br />
PROIECTULUI CONFORM HG 475/2007*:<br />
Masura in care acestia pot constitui precursori pentru rezultatele<br />
finale prevazute a se obtine<br />
Numar de tehnologii rezultate din omologari: (1)<br />
- secventire ADN prenatal<br />
Numar de rezumate publicate in reviste indexate ISI: (2)<br />
- Newborn hearing screening – ( 2010), Emilia Severin, A.Toma, Crenguta Albu, D.Albu,<br />
C.Sarafoleanu, Cristina Dragomir, Adriana Stan, D.T.Stefanescu, L.Savu, European<br />
Journal of Human Genetics, Vol 18 S1, pag.53, ISSN 1018-4813, IF 3.564<br />
- Genetic Testing for Congenital <strong>non</strong>syndromic deafness (DFNB1) – (2010), Emilia Severin,<br />
<br />
C Dragomir, A Stan, C Albu, D Albu, DT Stefanescu, L Savu, Journal of Medical<br />
Genetics – vol 46,S1, pag. 60, ISSN 0022-2593, IF 5.751<br />
Numar de articole publicate (1) sau under review (2) in<br />
reviste indexate ISI:<br />
- A neonate with dysmorphic facial features www.medscape.com/viewarticle/726484<br />
- Prenatal screening for the 35delG GJB2, del (GJB6-D13S1830) and del (GJB6-<br />
D13S1854) mutations in Romanian popu<strong>la</strong>tion - Cristina Dragomir, Adriana Stan,<br />
Dragos T Stefanescu, Lorand Savu, Emilia Severin.<br />
- Molecu<strong>la</strong>r diagnosis in Romanian children with DFNB1 re<strong>la</strong>ted hearing loss - Cristina<br />
Dragomir, Adriana Stan, D.T.Stefanescu, Lorand Savu,,Codrut Sarafoleanu, Adrian<br />
Toma, Emilia Severin.<br />
Numar de studii de interes national: (1)<br />
12/23/2010 UMF "Carol Davi<strong>la</strong>"- Proiect<br />
42143<br />
12
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