Mutations in different components of FGF signaling in LADD syndrome
Wollnik, Bernd, Rohmann, Edyta, Brunner, Han G, Kayserili, Hülya, Uyguner, Oya, Nürnberg, Gudrun, Lew, Erin D, Dobbie, Angus, Eswarakumar, Veraragavan P, Uzumcu, Abdullah, Ulubil-Emeroglu, Melike, Leroy, Jules G, Li, Yun, Becker, Christian, Lehnerdt, Kai, Cremers, Cor W R J, Yüksel-Apak, Memnune, Nürnberg, Peter, Kubisch, Christian, Schlessinger, Joseph, van Bokhoven, Hans
Published in Nature genetics (01.04.2006)
Published in Nature genetics (01.04.2006)
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Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia
Fink, John K, Zhao, Xinping, Alvarado, David, Rainier, Shirley, Lemons, Rosemary, Hedera, Peter, Weber, Christian H, Tukel, Turgut, Apak, Memnune, Heiman-Patterson, Terry, Ming, Lei, Bui, Melanie
Published in Nature genetics (01.11.2001)
Published in Nature genetics (01.11.2001)
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Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome
Wollnik, Bernd, Tukel, Turgut, Uyguner, Oya, Ghanbari, Asadollah, Kayserili, Hulya, Emiroglu, Melike, Yuksel-Apak, Memnune
Published in American journal of medical genetics. Part A (15.09.2003)
Published in American journal of medical genetics. Part A (15.09.2003)
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Mutations in Capillary Morphogenesis Gene-2 Result in the Allelic Disorders Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis
Dowling, Oonagh, Difeo, Analisa, Ramirez, Maria C., Tukel, Turgut, Narla, Goutham, Bonafe, Luisa, Kayserili, Hulya, Yuksel-Apak, Memnune, Paller, Amy S., Norton, Karen, Teebi, Ahmad S., Grum-Tokars, Valerie, Martin, Gail S., Davis, George E., Glucksman, Marc J., Martignetti, John A.
Published in American journal of human genetics (01.10.2003)
Published in American journal of human genetics (01.10.2003)
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Corpus Callosum Agenesis in Trisomy 8p11.23 and Monosomy 4q34 Because of Maternal Translocation
Işık, Uğur, MD, Başaran, Seher, PhD, Dehgan, Tahir, MD, Apak, Memnune, MD
Published in Pediatric neurology (01.07.2008)
Published in Pediatric neurology (01.07.2008)
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Further delineation of Frank-ter Haar syndrome
Maas, Saskia M., Kayserili, Hulya, Lam, Jan, Apak, Memnune Y., Hennekam, Raoul C.M.
Published in American journal of medical genetics. Part A (01.12.2004)
Published in American journal of medical genetics. Part A (01.12.2004)
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Erratum: Mutations in different components of FGF signaling in LADD syndrome
Rohmann, Edyta, Brunner, Han G, Kayserili, Hülya, Uyguner, Oya, Nürnberg, Gudrun, Lew, Erin D, Dobbie, Angus, Eswarakumar, Veraragavan P, Uzumcu, Abdullah, Ulubil-Emeroglu, Melike, Leroy, Jules G, Li, Yun, Becker, Christian, Lehnerdt, Kai, Cremers, Cor W R J, Yüksel-Apak, Memnune, Nürnberg, Peter, Kubisch, Christian, Schlessinger, Joseph, van Bokhoven, Hans, Wollnik, Bernd
Published in Nature genetics (01.04.2006)
Published in Nature genetics (01.04.2006)
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Evaluation of mental retardation - Part 1: Etiologic classification of 4659 patients with mental retardation or multiple congenital abnormality and mental retardation
Yuksel, Adnan, Kayserili, Hulya, Yesil, Gozde, Apak, Memnune
Published in Journal of pediatric neurosciences (01.07.2007)
Published in Journal of pediatric neurosciences (01.07.2007)
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Evaluation of mental retardation - Part 2: The factors that elucidate the etiologic diagnosis of the patients with mental retardation or multiple congenital abnormality and mental retardation
Yuksel, Adnan, Kayserili, Hulya, Yesil, Gozde, Apak, Memnune
Published in Journal of pediatric neurosciences (01.07.2007)
Published in Journal of pediatric neurosciences (01.07.2007)
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The identification of small supernumerary marker chromosomes; the experiences of 15,792 fetal karyotyping from Turkey
Karaman, Birsen, Aytan, Melike, Yilmaz, Kader, Toksoy, Guven, Onal, Ebru Perim, Ghanbari, Asadollah, Engur, Ayse, Kayserili, Hulya, Yuksel-Apak, Memnune, Basaran, Seher
Published in European journal of medical genetics (01.05.2006)
Published in European journal of medical genetics (01.05.2006)
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Identification of the parental origin of polysomy in two 49,XXXXY cases
Çelik, Arzu, Eraslan, Serpil, Gökgöz, Nalan, Ilgin, Hatice, Baçaran, Seher, Bökesoy, Işik, Kayserili, Hülya, Yüksel‐Apak, Memnune, Kirdar, Betül
Published in Clinical genetics (01.06.1997)
Published in Clinical genetics (01.06.1997)
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Screening of deletions and RFLP analysis in Turkish DMD/BMD families by PCR
Gökgöz, N, Kuseyri, F, Topaloğlu, H, Yüksel-Apak, M, Kirdar, B
Published in Clinical genetics (01.05.1993)
Published in Clinical genetics (01.05.1993)
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A large duplication involving the IHH locus mimics acrocallosal syndrome
YUKSEL-APAK, Memnune, BÖGERSHAUSEN, Nina, GRZESCHIK, Karl-Heinz, NÜRNBERG, Peter, KAYSERILI, Hülya, WOLLNIK, Bernd, PAWLIK, Barbara, YUN LI, APAK, Selcuk, UYGUNER, Oya, MILZ, Esther, NÜRNBERG, Gudrun, KARAMAN, Birsen, GÜLGÖREN, Ayan
Published in European journal of human genetics : EJHG (01.06.2012)
Published in European journal of human genetics : EJHG (01.06.2012)
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An Insulin Receptor Mutant (Asp707→ Ala), Involved in Leprechaunism, Is Processed and Transported to the Cell Surface but Unable to Bind Insulin
Hart, Leen M.'t, Lindhout, Dick, Van der Zon, Gerard C.M., Kayserilli, Hülya, Apak, Memnune Y., Kleijer, Wim J., Van der Vorm, Eric R., Maassen, J. Antonie
Published in The Journal of biological chemistry (02.08.1996)
Published in The Journal of biological chemistry (02.08.1996)
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hKChIP2 is a functional modifier of hKv4.3 potassium channels: Cloning and expression of a short hKChIP2 splice variant
DECHER, Niels, UYGUNER, Oya, SCHERER, Constanze R, KARAMAN, Birsen, YÜKSEL-APAK, Memnune, BUSCH, Andreas E, STEINMEYER, Klaus, WOLLNIK, Bernd
Published in Cardiovascular research (01.11.2001)
Published in Cardiovascular research (01.11.2001)
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CYP21A2 gene mutations in congenital adrenal hyperplasia: genotype-phenotype correlation in Turkish children
Baş, Firdevs, Kayserili, Hülya, Darendeliler, Feyza, Uyguner, Oya, Günöz, Hülya, Yüksel Apak, Memnune, Atalar, Fatmahan, Bundak, Rüveyde, Wilson, Robert C, New, Maria I, Wollnik, Bernd, Saka, Nurçin
Published in Journal of clinical research in pediatric endocrinology (2009)
Published in Journal of clinical research in pediatric endocrinology (2009)
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