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MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instabilityLoss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome.Hypogonadotropic Hypogonadism due to Novel FGFR1 MutationsMutations in FEZF1 cause Kallmann syndromeTurner syndrome and associated problems in Turkish children: a multicenter studyExpanding the Clinical Spectrum Associated With GLIS3 Mutations.Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadismGrowth curves for Turkish Girls with Turner Syndrome: Results of the Turkish Turner Syndrome Study GroupCCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal MigrationIdiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1.Unilateral exudative retinal detachment as the sole presentation of relapsing acute lymphoblastic leukemia.A Novel Homozygous Mutation in the KCNJ11 Gene of a Neonate with Congenital Hyperinsulinism and Successful Management with Sirolimus.Wolcott-Rallison Syndrome with Novel EIF2AK3 Gene Mutation.Crouzonodermoskeletal Syndrome with Hypoplasia of Corpus Callosum and Inferior Vermis.Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis.Novel inactivating mutations of the DCAF17 gene in American and Turkish families cause male infertility and female subfertility in the mouse model.Prevalence of ZnT8 Antibody in Turkish Children and Adolescents with New Onset Type 1 DiabetesCCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism.Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families.The Investigation of Plasma Glucagon-like Peptide-1 Levels in Newly Diagnosed Type 1 Diabetic Children.Complete Idiopathic Hypogonadotropic Hypogonadism due to Homozygous GNRH1 Mutations in the Mutational Hot Spots in the Region Encoding the Decapeptide.Inactivating KISS1 mutation and hypogonadotropic hypogonadismAn emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3)Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: A Pilot Study with 38,935 InfantsHyperphosphatemic Familial Tumoral Calcinosis in Two Siblings with a Novel Mutation in Gene: Experience from Southern TurkeyPredicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing.The effect of lifestyle change and metformin therapy on serum arylesterase and paraoxonase activity in obese childrenEtiological evaluation of patients presenting with isolated micropenis to an academic health care centerAnthropometric findings from birth to adulthood and their relation with karyotpye distribution in Turkish girls with Turner syndromeSertoli cell only syndrome with ambiguous genitaliaEfficiency of Single Dose of Tolvaptan Treatment During the Triphasic Episode After Surgery for Craniopharyngioma
P50
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P50
description
researcher ORCID ID = 0000-0003-2160-9838
@en
wetenschapper
@nl
name
Fatih Gürbüz
@ast
Fatih Gürbüz
@en
Fatih Gürbüz
@nl
type
label
Fatih Gürbüz
@ast
Fatih Gürbüz
@en
Fatih Gürbüz
@nl
prefLabel
Fatih Gürbüz
@ast
Fatih Gürbüz
@en
Fatih Gürbüz
@nl
P31
P496
0000-0003-2160-9838