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American Journal of Medical Genetics. Part A|August 1, 2018
Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosisPelin O Simsek-Kiper, Ekim Z Taskiran, Can Kosukcu, et al.Journal of Clinical Immunology|January 9, 2019
A Novel Missense LIG4 Mutation in a Patient With a Phenotype Mimicking Behçet's DiseaseEkim Z Taskiran, Hafize E Sonmez, Can Kosukcu, et al.American Journal of Medical Genetics. Part A|April 14, 2019
Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndromePelin Ozlem Simsek-Kiper, Ekim Taskiran, Can Kosukcu, et al.International Journal of Food Sciences and Nutrition|August 5, 2020
FTO gene-lifestyle interactions on serum adiponectin concentrations and central obesity in a Turkish populationKubra Isgin-Atici, Sooad Alsulami, Busra Turan-Demirci, et al.American Journal of Medical Genetics. Part A|October 5, 2019
ADA2 deficiency in a patient with Noonan syndrome-like disorder with loose anagen hair: The co-occurrence of two rare syndromesOzlem Akgun-Dogan, Pelin O Simsek-Kiper, Ekim Taskiran, et al.American Journal of Human Genetics|May 11, 2010
Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasiaElif Uz, Yasemin Alanay, Dilek Aktas, et al.Human Molecular Genetics|August 21, 2009
ALX4 dysfunction disrupts craniofacial and epidermal developmentHulya Kayserili, Elif Uz, Carien Niessen, et al.Neuro Endocrinology Letters|September 6, 2017
Unusual presentations of Carney Complex in patient with a novel PRKAR1A mutationSafak Akin, Senem Noyan, Selcuk Dagdelen, et al.Annals of the Rheumatic Diseases|August 29, 2025
Transcriptome analysis of unmedicated heterozygous familial Mediterranean fever patients reveals a type I interferon signature driving increasing Pyrin expressionErdal Sag, Gozde Imren, Lieselotte Vande Walle, et al.Pediatric Diabetes|August 2, 2020
Novel insights into diabetes mellitus due to DNAJC3-defect: Evolution of neurological and endocrine phenotype in the pediatric age groupZ Alev Ozon, Ayfer Alikasifoglu, Nurgun Kandemir, et al.Pageof 6