Lista de obras -

A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay

scientific article published on 13 June 2018

A case of campomelic dysplasia in whom a new mutation was found in the SOX9 gene

artículo científico publicado en 2014

A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia

artículo científico publicado en 2019

A novel FBN2 mutation in a Turkish case with congenital contractural arachnodactyly

scientific article published on 01 July 2018

A novel KIF7 mutation in two affected siblings with acrocallosal syndrome

artículo científico publicado en 2015

A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients

scientific article published on 26 November 2019

A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing

artículo científico publicado en 2016

Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability.

artículo científico publicado en 2018

De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder

artículo científico publicado en 2014

Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population

scientific article published on 13 August 2018

Early onset marfan syndrome: Atypical clinical presentation of two cases

artículo científico publicado en 2015

Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome

scientific article published on 27 August 2019

Microangiopathy and mild mixed neuromyopathic alterations in a patient with homozygous PIEZO-2 mutation

artículo científico publicado en 2018

Novel TMC8 splice site mutation in epidermodysplasia verruciformis and review of HPV infections in patients with the disease.

artículo científico publicado en 2017

Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome

article

Partial trisomies of 8q and 15q due to maternal balanced translocations

artículo científico publicado en 2012

Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination

artículo científico publicado en 2019

Prevalence of nonclassic congenital adrenal hyperplasia in Turkish children presenting with premature pubarche, hirsutism, or oligomenorrhoea.

artículo científico publicado en 2014

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

scientific article published on 20 June 2019

The Human Phenotype Ontology in 2024: phenotypes around the world

artículo científico publicado en 2023

Three Single Nucleotide Polymorphisms of ' in a Turkish Population with Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma

artículo científico publicado en 2018

Tricho-rhino-phalangeal syndrome type 1 as an outcome of in vitro fertilization?

VEGF-A gene polymorphisms and responses to intravitreal ranibizumab treatment in patients with diabetic macular edema.

artículo científico publicado en 2017

Lista de obras de

A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay

A case of campomelic dysplasia in whom a new mutation was found in the SOX9 gene

A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia

A novel FBN2 mutation in a Turkish case with congenital contractural arachnodactyly

A novel KIF7 mutation in two affected siblings with acrocallosal syndrome

A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients

A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing

Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability.

De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder

Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population

Early onset marfan syndrome: Atypical clinical presentation of two cases

Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome

Microangiopathy and mild mixed neuromyopathic alterations in a patient with homozygous PIEZO-2 mutation

Novel TMC8 splice site mutation in epidermodysplasia verruciformis and review of HPV infections in patients with the disease.

Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome

Partial trisomies of 8q and 15q due to maternal balanced translocations

Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination

Prevalence of nonclassic congenital adrenal hyperplasia in Turkish children presenting with premature pubarche, hirsutism, or oligomenorrhoea.

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

The Human Phenotype Ontology in 2024: phenotypes around the world

Three Single Nucleotide Polymorphisms of ' in a Turkish Population with Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma

Tricho-rhino-phalangeal syndrome type 1 as an outcome of in vitro fertilization?

VEGF-A gene polymorphisms and responses to intravitreal ranibizumab treatment in patients with diabetic macular edema.