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BMC Medical Genomics|October 1, 2024
Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical applicationTahir Atik, Enise Avci Durmusalioglu, Esra Isik, et al.European Journal of Internal Medicine|January 18, 2016
A case of familial partial lipodystrophy caused by a novel lamin A/C (LMNA) mutation in exon 1 (D47N)Nilufer Ozdemir Kutbay, Banu Sarer Yurekli, Huseyin Onay, et al.Developmental Neurobiology|May 15, 2026
Expanding the Neurodevelopmental Spectrum of Xia-Gibbs Syndrome: New Clinical Entities and Novel Variants From a Turkish CohortIrem Kalay, Kadri Karaer, Sumeyra Oguz, et al.Metabolic Brain Disease|May 3, 2014
Molecular analysis in X-linked adrenoleukodystrophy patients: identification of a novel mutationAsude Durmaz, Tahir Atik, Hüseyin Onay, et al.Annals of Human Genetics|March 13, 2020
Clinical and molecular aspects of PTEN mutations in 10 pediatric patientsEsra Isik, Ozguc Semih Simsir, Asli Ece Solmaz, et al.Journal of Diabetes and Its Complications|September 18, 2024
"Predicting diabetic kidney disease in youth with type 1 diabetes: Insights from genetic risk assessment"Ferda Evin, Tarık Kırkgöz, Tahir Atik, et al.Molecular Syndromology|December 7, 2023
Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish ChildHatice Ceren Eser, Durdugul Ayyildiz Emecen, Ezgi Topyildiz, et al.Journal of Clinical Research in Pediatric Endocrinology|September 16, 2020
A New Cause of Obesity Syndrome Associated with a Mutation in the Carboxypeptidase Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic HypogonadismAsude Durmaz, Ayça Aykut, Tahir Atik, et al.Clinical Child Psychology and Psychiatry|June 6, 2022
Evaluation of social cognition, autistic traits, and dysmorphology in comorbid specific learning disorder and attention-deficit/hyperactivity disorderNazli Burcu Ozbaran, Senay Celenay Ozyasar, Nurhak Dogan, et al.Diabetes & Metabolic Syndrome|April 12, 2017
The spectrum of HNF1A gene mutations in patients with MODY 3 phenotype and identification of three novel germline mutations in Turkish PopulationEmin Karaca, Huseyin Onay, Sevki Cetinkalp, et al.Pageof 10