Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis
Boppudi, S., Bögershausen, N., Hove, H.B., Percin, E.F., Aslan, D., Dvorsky, R., Kayhan, G., Li, Y., Cursiefen, C., Tantcheva-Poor, I., Toft, P.B., Bartsch, O., Lissewski, C., Wieland, I., Jakubiczka, S., Wollnik, B., Ahmadian, M.R., Heindl, L.M., Zenker, M.
Published in Clinical genetics (01.10.2016)
Published in Clinical genetics (01.10.2016)
Get full text
Journal Article
Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome
Brussel, Wim, Percin, E. Ferda, Celli, Jacopo, Balci, Sevim, Kerr, Bronwyn, van Beusekom, Ellen, Akarsu, Nurten, van Bokhoven, Hans, Kayserili, Hülya, Brunner, Han G, Skovby, Flemming
Published in Nature genetics (01.08.2000)
Published in Nature genetics (01.08.2000)
Get full text
Journal Article
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10
Sarfarazi, Mansoor, McInnes, Roderick R, Ferda Percin, E, Ploder, Lynda A, Yu, Jessica J, Arici, Kemal, Jonathan Horsford, D, Rutherford, Adam, Bapat, Bharati, Cox, Diane W, Duncan, Alessandra M.V, Kalnins, Vitauts I, Kocak-Altintas, Aysegul, Sowden, Jane C, Traboulsi, Elias
Published in Nature genetics (01.08.2000)
Published in Nature genetics (01.08.2000)
Get full text
Journal Article
A PATIENT WITH PARTIAL CHROMOSOME 12q DUPLICATION AND 10q DELETION
Saat, H, Soysal, Y, Kurtgoz, S, Ergun, M A, Percin, E F
Published in Genetic counseling (01.01.2015)
Get full text
Published in Genetic counseling (01.01.2015)
Journal Article
Gingival fibromatosis, short stature, border-line IQ, facial dysmorphism and hepatomegaly
Marakoglu, I, Percin, E F, Gursoy, U K, Onarlioglu, B, Ergur, A T
Published in Genetic counseling (2005)
Get more information
Published in Genetic counseling (2005)
Journal Article
SUBMICROSCOPIC DUPLICATION OF 8g24.3 REGION IS A POTENTIAL CANDIDATE FOR DISORDERS OF SEX DEVELOPMENT
Dilek, F N, Perçin, E F, Kayserili, H, Ergün, M A, Saka, N
Published in Genetic counseling (01.07.2016)
Get full text
Published in Genetic counseling (01.07.2016)
Journal Article
Dubowitz syndrome: a cholesterol metabolism disorder?
Yeşilkaya, E, Karaer, K, Bideci, A, Camurdan, O, Perçin, E F, Cinaz, P
Published in Genetic counseling (01.01.2008)
Get full text
Published in Genetic counseling (01.01.2008)
Journal Article