RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome von Bögershausen, Nina, Tsai, I-Chun, Pohl, Esther, Kiper, Pelin Özlem Simsek, Beleggia, Filippo, Percin, E Ferda, Keupp, Katharina, Matchan, Angela, Milz, Esther, Alanay, Yasemin, Kayserili, Hülya, Liu, Yicheng, Banka, Siddharth, Kranz, Andrea, Zenker, Martin, Wieczorek, Dagmar, Elcioglu, Nursel, Prontera, Paolo, Lyonnet, Stanislas, Meitinger, Thomas, Stewart, A Francis, Donnai, Dian, Strom, Tim M, Boduroglu, Koray, Yigit, Gökhan, Li, Yun, Katsanis, Nicholas, Wollnik, Bernd

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Warburg Micro Syndrome 1 due to Segmental Paternal Uniparental Isodisomy of Chromosome 2 Detected by Whole-Exome Sequencing and Homozygosity Mapping von Sezer, Abdullah, Kayhan, Gülsüm, Koç, Altuğ, Ergün, Mehmet A., Perçin, Ferda E.

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Mutations Affecting the BHLHA9 DNA-Binding Domain Cause MSSD, Mesoaxial Synostotic Syndactyly with Phalangeal Reduction, Malik-Percin Type von Malik, Sajid, Percin, Ferda E., Bornholdt, Dorothea, Albrecht, Beate, Percesepe, Antonio, Koch, Manuela C., Landi, Antonio, Fritz, Barbara, Khan, Rizwan, Mumtaz, Sara, Akarsu, Nurten A., Grzeschik, Karl-Heinz

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Long-term follow-up and novel variant in Suleiman-El-Hattab syndrome: Expanding the genotypic and clinical spectrum of a rare neurodevelopmental disorder von Sezer, Abdullah, Kayhan, Gulsum, Percin, Ferda E.

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LRP5- linked osteoporosis-pseudoglioma syndrome mimicking isolated microphthalmia von Ergun, Sezen Guntekin, Akay, Guvem Gumus, Ergun, Mehmet Ali, Perçin, E. Ferda

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Expanding the phenotype and genotype in Thauvin‐Robinet‐Faivre syndrome: A new patient with a novel variant and additional clinical findings von Duzenli, Tarik, Sezer, Abdullah, Kayhan, Gulsum, Arslan, Ayse Tana, Percin, Ferda E.

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A homozygous missense variant in the WRN gene segregating in a family with progressive pulmonary failure with recurrent spontaneous pneumothorax and interstitial lung disease von Sezer, Abdullah, Kayhan, Gulsum, Gursoy, Tugba Ramasli, Eyuboglu, Tugba Sismanlar, Percin, Ferda E.

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Thiopurine methyltransferase polymorphisms and mercaptopurine tolerance in Turkish children with acute lymphoblastic leukemia von Albayrak, Meryem, Konyssova, Uljan, Kaya, Zuhre, Gursel, Turkiz, Guntekin, Sezen, Percin, E. Ferda, Kocak, Ulker

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Clinical findings in cases with 9q deletion encompassing the 9q21.11q21.32 region von Tuğ, Esra, Ergün, M Ali, Perçin, E Ferda

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Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome von van Bokhoven, Hans, Celli, Jacopo, Kayserili, Hülya, van Beusekom, Ellen, Balci, Sevim, Brussel, Wim, Skovby, Flemming, Kerr, Bronwyn, Percin, E. Ferda, Akarsu, Nurten, Brunner, Han G.

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Human microphthalmia associated with mutations in the retinal homeobox gene CHX10 von 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, Sarfarazi, Mansoor, McInnes, Roderick R.

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Y chromosome azoospermia factor region microdeletions and recurrent pregnancy loss von Karaer, Abdullah, MD, Karaer, Kadri, MD, Ozaksit, Gulnur, MD, Ceylaner, Serdar, MD, Percin, E. Ferda, MD, PhD

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Blood-derived human iPS cells generate optic vesicle-like structures with the capacity to form retinal laminae and develop synapses von Phillips, M Joseph, Wallace, Kyle A, Dickerson, Sarah J, Miller, Michael J, Verhoeven, Amelia D, Martin, Jessica M, Wright, Lynda S, Shen, Wei, Capowski, Elizabeth E, Percin, E Ferda, Perez, Enio T, Zhong, Xiufeng, Canto-Soler, Maria V, Gamm, David M

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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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Modeling Human Retinal Development with Patient‐Specific Induced Pluripotent Stem Cells Reveals Multiple Roles for Visual System Homeobox 2 von Phillips, M. Joseph, Perez, Enio T., Martin, Jessica M., Reshel, Samantha T., Wallace, Kyle A., Capowski, Elizabeth E., Singh, Ruchira, Wright, Lynda S., Clark, Eric M., Barney, Patrick M., Stewart, Ron, Dickerson, Sarah J., Miller, Michael J., Percin, E. Ferda, Thomson, James A., Gamm, David M.

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MEFV gene mutations and its impact on the clinical course in ulcerative colitis patients von Yıldırım, Beytullah, Tuncer, Candan, Kan, Derya, Tunc, Bilge, Demirag, Mehmet Derya, Ferda Percın, E., Haznedaroglu, Seminur, Alagozlu, Hakan

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Effects of microalgae chlorella species crude extracts on intestinal adaptation in experimental short bowel syndrome von Kerem, Mustafa, Salman, Bulent, Pasaoglu, Hatice, Bedirli, Abdulkadir, Alper, Murat, Katircioglu, Hikmet, Atici, Tahir, Percin, E Ferda, Ofluoglu, Ebru

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Rectal duplications accompanying rectovestibular fistula: Report of two cases von Pampal, Arzu, Ozbayoglu, Asli, Kaya, Cem, Pehlivan, Yildiz, Poyraz, Aylar, Ozen, I. Onur, Percin, Ferda E., Demirogullari, Billur

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Identification of Three Novel FBN1 Mutations and Their Phenotypic Relationship of Marfan Syndrome von Kayhan, Gulsum, Ergun, Mehmet Ali, Ergun, Sezen Guntekin, Kula, Serdar, Percin, Ferda E

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A case with de novo inv dup del(8p) associated with dextrocardia and corpus callosum agenesis von Ergün, Mehmet A., Kula, Serdar, Karaer, Kadri, Perçin, E. Ferda

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