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The Journal of Pediatrics|March 4, 2014
Prevalence of Prader-Willi syndrome among infants with hypotoniaBeyhan Tuysuz, Nuray Kartal, Tugba Erener-Ercan, et al.
Journal of Medical Genetics|December 21, 2022
Biallelic frameshift variants in <i>PHLDB1</i> cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changesBeyhan Tuysuz, Dilek Uludag Alkaya, Filiz Geyik, et al.
American Journal of Medical Genetics. Part A|August 14, 2012
IMPAD1 mutations in two Catel-Manzke like patientsMathilde Nizon, Yasemin Alanay, Beyhan Tuysuz, et al.
JIMD Reports|July 30, 2015
Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null MutationBeyhan Tuysuz, Davut Pehlivan, Ahmet Özkök, et al.
American Journal of Human Genetics|March 4, 2014
XYLT1 mutations in Desbuquois dysplasia type 2Catherine Bui, Céline Huber, Beyhan Tuysuz, et al.
The Tohoku Journal of Experimental Medicine|March 10, 2007
Detection of Y chromosomal material in patients with a 45,X karyotype by PCR methodC Nur Semerci, N Lale Satiroglu-Tufan, Serap Turan, et al.
The Journal of Investigative Dermatology|May 23, 2015
GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi TargetingJohannes Egerer, Denise Emmerich, Björn Fischer-Zirnsak, et al.
Neuropediatrics|May 22, 2012
A novel GJC2 mutation associated with hypomyelination and Müllerian agenesis syndrome: coincidence or a new entity?Cengiz Yalcinkaya, Ozdem Erturk, Beyhan Tuysuz, et al.
American Journal of Medical Genetics. Part A|April 13, 2023
The clinical phenotype of Koolen-de Vries syndrome in Turkish patients and literature reviewGokcen Karamik, Beyhan Tuysuz, Esra Isik, et al.
Scientific Reports|March 9, 2017
Disruptions in asymmetric centrosome inheritance and WDR62-Aurora kinase B interactions in primary microcephalyParaskevi Sgourdou, Ketu Mishra-Gorur, Ichiko Saotome, et al.
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