Physician
Pediatric Neurology
Dr. Davut Pehlivan, MD
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Davut Pehlivan works in the field of Pediatric Neurology. Davut Pehlivan, MD has written publications. He has 13 publications published with PubMed. The lastest paper is: 'Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.'
Publications
- Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
- Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome.
- Homozygous loss-of-function mutations in SOHLH1 in patients with non-syndromic hypergonadotropic hypogonadism.
- Whole exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome.
- A Drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.
- Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.
- Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function.
- Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome.
- Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.
- Replicative mechanisms for CNV formation are error prone.
- Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D.
- Mutations in VRK1 Associated With Complex Motor and Sensory Axonal Neuropathy Plus Microcephaly.
Doctors Specialties
- Pediatric Neurology
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