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Neurosurgery|November 15, 2005
Mutations in apoptosis-related gene, PDCD10, cause cerebral cavernous malformation 3Bulent Guclu, Ali K Ozturk, Katie L Pricola, et al.Clinical Genetics|August 8, 2019
Identification of a dominant MYH11 causal variant in chronic intestinal pseudo-obstruction: Results of whole-exome sequencingWeilai Dong, Clinton Baldwin, Jungmin Choi, et al.Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia|July 29, 2008
Therapeutic efficacy of SJA6017, a calpain inhibitor, in rat spinal cord injuryOsman Akdemir, Murat Uçankale, Alper Karaoğlan, et al.American Journal of Medical Genetics. Part A|April 5, 2014
Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging featuresBeyhan Tüysüz, Kaya Bilguvar, Naci Koçer, et al.The Journal of Obstetrics and Gynaecology Research|February 10, 2022
Further delineation of familial polycystic ovary syndrome (PCOS) via whole-exome sequencing: PCOS-related rare FBN3 and FN1 gene variants are identifiedCengiz Karakaya, Aylin Pelin Çil, Kaya Bilguvar, et al.American Journal of Medical Genetics. Part A|March 9, 2007
Apparently novel genetic syndrome of pachygyria, mental retardation, seizure, and arachnoid cystsAslan Guzel, Mehmet Tatli, Kaya Bilguvar, et al.Journal of Human Genetics|March 26, 2022
Biallelic BICD2 variant is a novel candidate for Cohen-like syndromeAhmet Okay Caglayan, Beyhan Tuysuz, Ece Gül, et al.Plos One|April 7, 2025
Effects of essential tremor on longevity and mortality rates in familiesOnur Emre Onat, Faruk Ustunel, Cem Akbostanci, et al.European Journal of Human Genetics : EJHG|August 16, 2012
Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotionOnur Emre Onat, Suleyman Gulsuner, Kaya Bilguvar, 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.Pageof 13