Hatice Akay

Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort

Güney Bademci, Joseph Foster, Nejat Mahdieh et al. · Genetics in Medicine · 2015 · 158 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +11

MASP1 Mutations in Patients with Facial, Umbilical, Coccygeal, and Auditory Findings of Carnevale, Malpuech, OSA, and Michels Syndromes

Tom Walsh, Hatice Akay, Michail Spiliopoulos et al. · The American Journal of Human Genetics · 2010 · 139 citations · Full text

Developmental Anomaly, Mendelian Disorder, Genetic Disorder +6

GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome

Dan Doherty, Albert E. Chudley, Gail Coghlan et al. · The American Journal of Human Genetics · 2012 · 122 citations · Full text

Mendelian Disorder, Brain Malformations, Genetic Disorder +7

Effects of L-carnitine infusions on inflammatory and nutritional markers in haemodialysis patients

Murat Duranay, Hatice Akay, Mehmet Şeneş et al. · Nephrology Dialysis Transplantation · 2006 · 100 citations · Full text

Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: A report of five novel mutations

Aslı Sırmacı, Duygu Duman, Hatice Akay et al. · International Journal of Pediatric Otorhinolaryngology · 2009 · 61 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +11