Kabuki make-up syndrome with unilateral renal agenesis by Rasim Ozgür Rosti, Hülya Kayserili

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GENOTYPE-PHENOTYPE CORRELATION IN CASES WITH LISSENCEPHALY SPECTRUM by Ayça Dilruba Aslanger, Zehra Oya Uyguner, Birsen Karaman, Seher Başaran, Hülya Kayserili Karabey

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A de novo complex chromosomal rearrangement involving chromosomes 2, 8 and 13 in a dysmorphic case with polysyndactyly by Birsen Karaman, Rasim Ozgür Rosti, Kader Yilmaz, Havva Oztürk, Hülya Kayserili, Seher Başaran

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Angelman syndrome: clinical findings and follow-up data of 14 patients by Bülent Kara, Birsen Karaman, Meral Ozmen, Rasim Ozgür Rosti, Mine Calişkan, Hülya Kayserili, Seher Başaran

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Ataxia with vitamin E deficiency associated with deafness by Bülent Kara, Abdullah Uzümcü, Oya Uyguner, Rasim Ozgür Rosti, Ayça Koçbaş, Meral Ozmen, Hülya Kayserili

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GJB2-RELATED NON-SYNDROMIC HEARING LOSS VARIANTS’ SPECTRUM AND THEIR FREQUENCY IN TURKISH POPULATION by Çağrı Güleç, Ayça Dilruba Aslanger, Volkan Karaman, Bernd Wollnik, Fatih Tepgeç, Hülya Kayserili Karabey, Zehra Oya Uyguner

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HOLOPROSENCEPHALY: CHROMOSOMAL ABNORMALITIES IN THE ETIOPATHOGENESIS OF 127 ANTENATAL CASES by Birsen Karaman, Selvi Ergin, Hülya Kayserili Karabey, Atıl Yüksel, Nihan Bilge Satkın, İbrahim Halil Kalelioğlu, Recep Has, Seher Başaran

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RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis by Samantha Wong, Yu Xuan Tan, Abigail Yi Ting Loh, Kiat Yi Tan, Hane Lee, Zainab Aziz, Stanley F Nelson, Engin Özkan, Hülya Kayserili, Nathalie Escande‐Beillard, Bruno Reversade

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MOWAT-WILSON SYNDROME: DEEP PHENOTYPING AND MOLECULAR CHARACTERISATION OF TWELVE NEW INDIVIDUALS by Umut Altunoğlu, Nilay Güneş, Gözde Tutku Turgut, Tuğba Kalaycı, Ayça Dilruba Aslanger, Murat Derbent, Serpil Eraslan, Birsen Karaman, Zehra Oya Uyguner, Beyhan Tüysüz, Yasemin Alanay, Hülya Kayserili Karabey

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Trichothiodystrophy‐associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation by Arjan F Theil, Alex Pines, Tuğba Kalayci, José M Heredia‐Genestar, Anja Raams, Marion H Rietveld, Sriram Sridharan, Sabine EJ Tanis, Klaas W Mulder, Nesimi Büyükbabani, Birsen Karaman, Zehra O Uyguner, Hülya Kayserili, Jan HJ Hoeijmakers, Hannes Lans, Jeroen AA Demmers, Joris Pothof, Umut Altunoglu, Abdoelwaheb El Ghalbzouri, Wim Vermeulen

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Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. by Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, Christian Gilissen, Sarah A Graham, Sipko van Dam, Julie Hoover-Fong, Aida B Telegrafi, Anne Destree, Robert Smigiel, Lindsday A Lambie, Hülya Kayserili, Umut Altunoglu, Elisabetta Lapi, Maria Luisa Uzielli, Mariana Aracena, Banu G Nur, Ercan Mihci, Lilia M A Moreira, Viviane Borges Ferreira, Dafne D G Horovitz, Katia M da Rocha, Aleksandra Jezela-Stanek, Alice S Brooks, Heiko Reutter, Julie S Cohen, Ali Fatemi, Martin Smitka, Theresa A Grebe, Nataliya Di Donato, Charu Deshpande, Anthony Vandersteen, Charles Marques Lourenço, Andreas Dufke, Eva Rossier, Gwenaelle Andre, Alessandra Baumer, Careni Spencer, Julie McGaughran, Lude Franke, Joris A Veltman, Bert B A De Vries, Albert Schinzel, Simon E Fisher, Alexander Hoischen, Bregje W van Bon

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