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Molecular Genetics & Genomic Medicine|February 5, 2018
Genotype-phenotype investigation of 35 patients from 11 unrelated families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndromeSaliha Yilmaz, Dilek Uludağ Alkaya, Özgür Kasapçopur, et al.Journal of Neurosurgery|April 6, 2019
Whole exome sequencing-based analysis to identify DNA damage repair deficiency as a major contributor to gliomagenesis in adult diffuse gliomasEge Ülgen, Özge Can, Kaya Bilguvar, et al.Journal of Human Genetics|August 9, 2020
METAP1 mutation is a novel candidate for autosomal recessive intellectual disabilityAhmet Okay Caglayan, Fesih Aktar, Kaya Bilguvar, et al.Stroke|February 25, 2006
Molecular genetic analysis of two large kindreds with intracranial aneurysms demonstrates linkage to 11q24-25 and 14q23-31Ali K Ozturk, Brian V Nahed, Mohamad Bydon, et al.Human Mutation|August 7, 2007
Rapid identification of disease-causing mutations using copy number analysis within linkage intervalsFatih Bayrakli, Kaya Bilguvar, Christopher E Mason, et al.BMC Medical Genomics|February 24, 2021
Sequential filtering for clinically relevant variants as a method for clinical interpretation of whole exome sequencing findings in gliomaEge Ülgen, Özge Can, Kaya Bilguvar, et al.Neurology. Genetics|August 4, 2021
Mutation in <i>ZDHHC15</i> Leads to Hypotonic Cerebral Palsy, Autism, Epilepsy, and Intellectual DisabilitySara A Lewis, Somayeh Bakhtiari, Jennifer Heim, et al.Journal of Neurosurgery|December 25, 2007
A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly. Laboratory investigationKaya Bilguvar, Mohamad Bydon, Fatih Bayrakli, et al.Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia|October 2, 2009
A novel heterozygous deletion within the 3' region of the PAX6 gene causing isolated aniridia in a large family groupFatih Bayrakli, Ilter Guney, Yasar Bayri, et al.Journal of Hepatology|July 13, 2014
Paediatric hepatocellular carcinoma due to somatic CTNNB1 and NFE2L2 mutations in the setting of inherited bi-allelic ABCB11 mutationsSílvia Vilarinho, E Zeynep Erson-Omay, Akdes Serin Harmanci, et al.Pageof 13