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Clinical Genetics|November 18, 2025
Expanding the Phenotypic Spectrum of ERLIN1-Related SPG62: Report of Two Siblings With Behavioral Features and HyperacusisGulsah Sebnem Ozkose, Yasemin Topcu, Beril Ay, et al.
The Turkish Journal of Pediatrics|April 11, 2019
Epigenotype and phenotype correlations in patients with Beckwith-Wiedemann syndromeBurçak Bilgin, Serkan Kabaçam, Ekim Taşkıran, et al.
European Journal of Medical Genetics|April 29, 2008
Cryptic trisomy 5q35.2qter and deletion 1p36.3 characterised using FISH and array-based CGHEda G Utine, Yasemin Alanay, Dilek Aktas, et al.
Clinical, Cosmetic and Investigational Dermatology|April 21, 2022
A Review on Cutaneous and Musculoskeletal Manifestations of CLOVES SyndromeEmel Öztürk Durmaz, Deniz Demircioğlu, Pınar Yalınay Dikmen, et al.
American Journal of Medical Genetics. Part A|July 16, 2008
Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysisDeborah Krakow, Yasemin Alanay, Lauren P Rimoin, et al.
American Journal of Medical Genetics. Part A|November 4, 2004
Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2Russia Ha-Vinh, Yasemin Alanay, Ruud A Bank, et al.
The Turkish Journal of Pediatrics|June 10, 2014
Celiac disease in Williams-Beuren syndromePelin Ozlem Simşek-Kiper, Yavuz Sahin, Umut Arslan, et al.
Journal of Clinical Research in Pediatric Endocrinology|December 27, 2014
Prepubertal unilateral gynecomastia: report of 2 casesHüseyin Demirbilek, Gökhan Bacak, Rıza Taner Baran, et al.
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