Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis von 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.

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Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome von 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

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Human microphthalmia associated with mutations in the retinal homeobox gene CHX10 von 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

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Mesoaxial complete syndactyly and synostosis with hypoplastic thumbs: an unusual combination or homozygous expression of syndactyly type I? von Percin, E F, Percin, S, Egilmez, H, Sezgin, I, Ozbas, F, Akarsu, A N

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A new combination: short stature, congenital unilateral absence of the fibula, oligodactyly and trigonocephaly von Perçin, E F, Perçin, S

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An infant with situs inversus totalis, branchial cleft cyst and ectopic kidney: a new combination? von Köylüoğlu, G, Perçin, E F

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First-Trimester Diagnosis of Robinow Syndrome von Percin, E. Ferda, Guvenal, Tevfik, Cetin, Ali, Percin, Sıtkı, Goze, Fahrettin, Arici, Sema

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Waardenburg syndrome type I and small patella syndrome in the same patient von Perçİn, E FERDA, Bulut, SEMA, Kunt, TANFER, Perçİn, SITKI, Bulut, OKAY, Süngü, SELMA

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Surgical risk factors in Larsen's syndrome von KARAKAS, K, PERCIN, E. F, PERCIN, S

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Larsen's syndrome with mixed-type hearing loss von PERCIN, E. F, PERCIN, S, SEZGIN, I, AKBAS, A. K

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No association of polymorphisms in the glutathione S-transferase genes with pre-eclampsia, eclampsia and HELLP syndrome in a Turkish population von Cetin, Meral, Pinarbasi, Ergun, Percin, Ferda E., Akgün, Egemen, Percin, Sibel, Pinarbasi, Hatice, Gurlek, Fatma, Cetin, Ali

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A new combination: short stature, congenital unilateral absence of the fibula, oligodactyly and trigonocephaly von Perçin, E F, Perçin, S

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Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3 von Malik, Sajid, Percin, Ferda E., Ahmad, Wasim, Percin, Sitki, Akarsu, Nurten A., Koch, Manuela C., Grzeschik, Karl-Heinz

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An infant with situs inversus totalis, branchial cleft cyst and ectopic kidney: a new combination? von Köylüoğlu, G, Perçin, E F

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Complete Androgen Insensitivity Syndrome with 45, XY, t(13q; 14q) Translocation (Two cases) von Özdemir, Öztürk, Süngü, Selma, Percin, E.Ferda, Sezgin, Ilhan

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Anencephalic Infant with Cleft Palate and Natal Teeth: A Case Report von Marakoglu, Kamile, Percin, E. Ferda, Marakoglu, Ismail, Gursoy, Ulvi Kahraman, Goze, Fahrettin

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Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism von Reynolds, John J, Bicknell, Louise S, Carroll, Paula, Higgs, Martin R, Shaheen, Ranad, Murray, Jennie E, Papadopoulos, Dimitrios K, Leitch, Andrea, Murina, Olga, Tarnauskaitė, Žygimantė, Wessel, Sarah R, Zlatanou, Anastasia, Vernet, Audrey, von Kriegsheim, Alex, Mottram, Rachel M A, Logan, Clare V, Bye, Hannah, Li, Yun, Brean, Alexander, Maddirevula, Sateesh, Challis, Rachel C, Skouloudaki, Kassiani, Almoisheer, Agaadir, Alsaif, Hessa S, Amar, Ariella, Prescott, Natalie J, Bober, Michael B, Duker, Angela, Faqeih, Eissa, Seidahmed, Mohammed Zain, Al Tala, Saeed, Alswaid, Abdulrahman, Ahmed, Saleem, Al-Aama, Jumana Yousuf, Altmüller, Janine, Al Balwi, Mohammed, Brady, Angela F, Chessa, Luciana, Cox, Helen, Fischetto, Rita, Heller, Raoul, Henderson, Bertram D, Hobson, Emma, Nürnberg, Peter, Percin, E Ferda, Peron, Angela, Spaccini, Luigina, Quigley, Alan J, Thakur, Seema, Wise, Carol A, Yoon, Grace, Alnemer, Maha, Tomancak, Pavel, Yigit, Gökhan, Taylor, A Malcolm R, Reijns, Martin A M, Simpson, Michael A, Cortez, David, Alkuraya, Fowzan S, Mathew, Christopher G, Jackson, Andrew P, Stewart, Grant S

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1783P Genetic predisposition in adult sarcoma patients: Beyond TP53 von Rohr, O., Jouinot, A., Chansavang, A., Srikaran, A., Goldwasser, F., Boudou Rouquette, P., De Percin, S., Beinse, G., Noel, J., Toussaint, A., Hamzaoui, N., Pasmant, E., Tlemsani, C.

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1073P Relationship between basal metabolism, nivolumab clearance and survival in metastatic non-small cell lung cancer patients of the ELY study von Puszkiel, A., Boudou Rouquette, P., Arrondeau, J., Wislez, M., Fabre-Guillevin, E., Bianconi, G., Declèves, X., Jouinot, A., De Percin, S., Alexandre, J., Goldwasser, F., Blanchet, B.

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A Turkish family with Nance-Horan syndrome due to a novel mutation von Tug, Esra, Dilek, Nihal F., Javadiyan, Shahrbanou, Burdon, Kathryn P., Percin, Ferda E.

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