about
De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorderA novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencingA case of campomelic dysplasia in whom a new mutation was found in the SOX9 geneEarly onset marfan syndrome: Atypical clinical presentation of two casesPrevalence of nonclassic congenital adrenal hyperplasia in Turkish children presenting with premature pubarche, hirsutism, or oligomenorrhoea.Novel TMC8 splice site mutation in epidermodysplasia verruciformis and review of HPV infections in patients with the disease.VEGF-A gene polymorphisms and responses to intravitreal ranibizumab treatment in patients with diabetic macular edema.Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability.A novel KIF7 mutation in two affected siblings with acrocallosal syndrome.Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndromeMicroangiopathy and mild mixed neuromyopathic alterations in a patient with homozygous PIEZO-2 mutationThree Single Nucleotide Polymorphisms of ' in a Turkish Population with Pseudoexfoliation Syndrome and Pseudoexfoliation GlaucomaA KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delayPartial trisomies of 8q and 15q due to maternal balanced translocationsA novel FBN2 mutation in a Turkish case with congenital contractural arachnodactylyDevelopment of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient populationA novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patientsA homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasiaPathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal MyelinationGenetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndromeThe Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic InheritanceTricho-rhino-phalangeal syndrome type 1 as an outcome of in vitro fertilization?
P50
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P50
description
investigador
@es
researcher
@en
wetenschapper
@nl
name
Zafer Yuksel
@en
Zafer Yuksel
@nl
type
label
Zafer Yuksel
@en
Zafer Yuksel
@nl
altLabel
Yuksel Z
@en
prefLabel
Zafer Yuksel
@en
Zafer Yuksel
@nl
P31
P496
0000-0002-2085-5773