Zafer Yuksel

researcher

Zafer Yuksel is …
instance of (P31):
humanQ5

External links are
P6634LinkedIn personal profile IDzafer-yüksel-90a255104
P496ORCID iD0000-0002-2085-5773

P108employerGülhane Training and Research HospitalQ6088994
CentogeneQ99304166
P106occupationresearcherQ1650915

Reverse relations

author (P50)
Q64044991A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay
Q34670727A case of campomelic dysplasia in whom a new mutation was found in the SOX9 gene
Q91804559A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia
Q88974107A novel FBN2 mutation in a Turkish case with congenital contractural arachnodactyly
Q50599109A novel KIF7 mutation in two affected siblings with acrocallosal syndrome.
Q91452015A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients
Q34515501A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing
Q49957575Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability.
Q34324641De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder
Q90905858Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population
Q36623502Early onset marfan syndrome: Atypical clinical presentation of two cases
Q92910396Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome
Q58564055Microangiopathy and mild mixed neuromyopathic alterations in a patient with homozygous PIEZO-2 mutation
Q39395652Novel TMC8 splice site mutation in epidermodysplasia verruciformis and review of HPV infections in patients with the disease.
Q57243856Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome
Q85202092Partial trisomies of 8q and 15q due to maternal balanced translocations
Q92331962Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination
Q37694035Prevalence of nonclassic congenital adrenal hyperplasia in Turkish children presenting with premature pubarche, hirsutism, or oligomenorrhoea.
Q92967255The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance
Q123608235The Human Phenotype Ontology in 2024: phenotypes around the world
Q58603026Three Single Nucleotide Polymorphisms of ' in a Turkish Population with Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma
Q95354141Tricho-rhino-phalangeal syndrome type 1 as an outcome of in vitro fertilization?
Q47243737VEGF-A gene polymorphisms and responses to intravitreal ranibizumab treatment in patients with diabetic macular edema.

Search more.