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Loss-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 syndromeFour new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect.Low serum adiponectin levels in children and adolescents with diabetic retinopathyTAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction.Turner syndrome and associated problems in Turkish children: a multicenter studyCurrent practice in diagnosis and treatment of growth hormone deficiency in childhood: a survey from TurkeyDistribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadismRare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide CohortCCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal MigrationIdiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1.Wolcott-Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literature.Vitamin D Deficiency in Obsessive-Compulsive Disorder Patients with Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections: A Case Control Study.Neurokinin B signalling in human puberty.Hashimoto's encephalopathy: four cases and review of literature.Idiopathic hyperphosphatasia and TNFRSF11B mutations: relationships between phenotype and genotype.Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter study.Wolcott-Rallison Syndrome with Novel EIF2AK3 Gene Mutation.Crouzonodermoskeletal Syndrome with Hypoplasia of Corpus Callosum and Inferior Vermis.A homozygous recurring mutation in WISP3 causing progressive pseudorheumatoid arthropathy.Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis.Novel growth hormone receptor gene mutation in a patient with Laron syndrome.Growth hormone and insulin-like growth factor 1 levels and their relation to survival in children with bacterial sepsis and septic shock.Bone calcium changes during diabetic ketoacidosis: a comparison with lactic acidosis due to volume depletion.Pulmonary hypertension, heart failure and neutropenia due to diazoxide therapy.Effects of methylphenidate on appetite and growth in children diagnosed with attention deficit and hyperactivity disorder.CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism.Epidemiology of meningococcal infections in children in mid-southern part of Turkey.Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey.Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families.Fucosidosis with hypothyroidism: a case report.Molecular genetic studies in a case series of isolated hypoaldosteronism due to biosynthesis defects or aldosterone resistance.A Novel Frameshift Mutation in ESCO2 Gene in Roberts Syndrome.Response to growth hormone with respect to pubertal status on increased dose in idiopathic growth hormone deficiency: an analysis of Turkish children in the KIGS database (Pfizer International Growth Study).Impaired glucose tolerance in Fanconi-Bickel syndrome: Eight patients with two novel mutations.A case of ambiguous genitalia with unilateral amelia and unilateral peromelia of the upper limbs.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 hypogonadismMolecular Genetic Analysis of Normosmic Hypogonadotropic Hypogonadism in a Turkish Population: Identification and Detailed Functional Characterization of a Novel Mutation in the Gonadotropin-Releasing Hormone Receptor Gene
P50
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P50
description
researcher ORCID ID = 0000-0003-4378-3255
@en
wetenschapper
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name
Bilgin Yuksel
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Bilgin Yuksel
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Bilgin Yuksel
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Bilgin Yuksel
@nl
type
label
Bilgin Yuksel
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Bilgin Yuksel
@en
Bilgin Yuksel
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Bilgin Yuksel
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prefLabel
Bilgin Yuksel
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Bilgin Yuksel
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Bilgin Yuksel
@es
Bilgin Yuksel
@nl
P106
P31
P496
0000-0003-4378-3255