Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families von Williams, Lacey S., B.S, Demir Eksi, Durkadin, Ph.D, Shen, Yiping, Ph.D, Lossie, Amy C., Ph.D, Chorich, Lynn P., M.S, Sullivan, Megan E., B.S, Phillips, John A., M.D, Erman, Munire, M.D, Kim, Hyung-Goo, Ph.D, Alper, Ozgul M., Ph.D, Layman, Lawrence C., M.D

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A novel AXIN2 gene mutation in sagittal synostosis von Yilmaz, Elanur, Mihci, Ercan, Guzel Nur, Banu, Alper, Ozgul M.

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Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia von Demir Eksi, Durkadin, Shen, Yiping, Erman, Munire, Chorich, Lynn P, Sullivan, Megan E, Bilekdemir, Meric, Yılmaz, Elanur, Luleci, Guven, Kim, Hyung-Goo, Alper, Ozgul M, Layman, Lawrence C

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Coronal craniosynostosis due to TCF12 mutations in patients from Turkey von Yilmaz, Elanur, Mihci, Ercan, Nur, Banu, Alper, Ozgul M.

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Novel Gene Variants Associated with Primary Ciliary Dyskinesia von Demir Eksi, Durkadin, Yilmaz, Elanur, Basaran, A. Erdem, Erduran, Gizem, Nur, Banu, Mihci, Ercan, Karadag, Bulent, Bingol, Aysen, Alper, Ozgul M.

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Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing von Nal, Nevra, Ahmed, Zubair M, Erkal, Engin, Alper, Özgül M, Lüleci, Güven, Dinç, Oktay, Waryah, Ali Muhammad, Ain, Quratul, Tasneem, Saba, Husnain, Tayyab, Chattaraj, Parna, Riazuddin, Saima, Boger, Erich, Ghosh, Manju, Kabra, Madhulika, Riazuddin, Sheikh, Morell, Robert J, Friedman, Thomas B

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Clinicogenetic Study of Turkish Patients With Syndromic Craniosynostosis and Literature Review von Nur, Banu G., MD, Pehlivanoğlu, Suray, PhD, Mıhçı, Ercan, MD, Çalışkan, Mualla, PhD, Demir, Durkadın, PhD, Alper, Özgül M., PhD, Kayserili, Hülya, MD, Lüleci, Güven, PhD

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Recent Advances in Craniosynostosis von Yilmaz, Elanur, Mihci, Ercan, Nur, Banu, Alper, Özgül M., Taçoy, Şükran

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Normal sweat chloride test does not rule out cystic fibrosis von Başaran, Abdurrahman Erdem, Karataş-Torun, Nimet, Maslak, İbrahim Cemal, Bingöl, Ayşen, Alper, Özgül M

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Mitochondrial ATPase subunit 6 and cytochrome B gene variations in obese Turkish children von Demir, Durkadın, Türkkahraman, Doğa, Aktaş Samur, Anıl, Lüleci, Güven, Akçurin, Sema, Alper, Özgül M

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Analysis of TPO gene in Turkish children with iodide organification defect: identification of a novel mutation von Turkkahraman, Doga, Alper, Ozgul M., Pehlivanoglu, Suray, Aydin, Funda, Yildiz, Akin, Luleci, Guven, Akcurin, Sema, Bircan, Iffet

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Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients von Alper, Özgül M., Wong, Lee-Jun C., Young, Suzanne, Pearl, Michelle, Graham, Steve, Sherwin, John, Nussbaum, Eliezer, Nielson, Dennis, Platzker, Arnold, Davies, Zoe, Lieberthal, Allan, Chin, Terry, Shay, Greg, Hardy, Karen, Kharrazi, Martin

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Simultaneous suppression of epidermal growth factor receptor and c-erbB-2 reverses aneuploidy and malignant phenotype of a human ovarian carcinoma cell line von PACK, Svetlana D, ALPER, Özgül M, RIED, Thomas, SZALLASI, Zoltan, ALPER, Özge, STROMBERG, Kurt, AUGUSTUS, Meena, ÖZDEMIRLI, Metin, MIERMONT, Anne M, KLUS, Greg, RUSIN, Marek, SLACK, Rebecca, HACKER, Neville F

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Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens von Wu, Chien-Chih, Alper, Özgül M., Lu, Jyh-Feng, Wang, Song-Ping, Guo, Li, Chiang, Han-Sun, Wong, Lee-Jun C.

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First prenatal exclusion of cystic fibrosis in East Asia von WONG, LEE‐JUN C., LEE, MEI‐HUI, CHEN, MING, ALPER, ÖZGÜL M., TSAO, LONG‐YEN, WANG, BAO‐TYAN

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Final Diagnosis in Children with Subclinical Hypothyroidism and Mutation Analysis of the Thyroid Peroxidase Gene (TPO) von Turkkahraman, D., Alper, O.M., Aydin, F., Yildiz, A., Pehlivanoglu, S., Luleci, G., Akcurin, S., Bircan, I.

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Detection of CFTR mutations using temporal temperature gradient gel electrophoresis von Wong, Lee-Jun C., Alper, Özgül M.

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The necessity of complete CFTR mutational analysis of an infertile couple before in vitro fertilization von Wong, Lee-Jun C., Alper, Özgül M., Hsu, Evelyn, Woo, Marlyn S., Margetis, Monique F.

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Genetic Analysis of Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH) Through Ascertainment of a Large Cohort of Families von Williams, Lacey S., Eksi, Durkadin Demir, Shen, Yiping, Lossie, Amy C., Chorich, Lynn P., Sullivan, Megan E., Phillips, John A., Erman, Munire, Kim, Hyung-Goo, Alper, Ozgul M., Layman, Lawrence C.

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Abstract 694: Characterization of a novel monoclonal antibody to Glia maturation factor-beta showing significant clinical utility in the identification of breast carcinoma von Alper, Ozgul M., Chen, Cui P., Akoa, Achille, Herrmann, Marille, Alper, Ozge

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