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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 syndromeDistribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadismCCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal MigrationIdiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1.Ecthyma gangrenosum in a previously healthy pediatric patient and associated facial paralysis and persistent hyperplastic primary vitreous.Effects of methylphenidate on appetite and growth in children diagnosed with attention deficit and hyperactivity disorder.Response to growth hormone treatment in very young patients with growth hormone deficiencies and mini-puberty.Dynamic Thiol/Disulphide Homeostasis in Children and Adolescents with Non-Autoimmune Subclinical Hypothyroidism.CCDC141 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.A Novel Frameshift Mutation in ESCO2 Gene in Roberts Syndrome.Complete Idiopathic Hypogonadotropic Hypogonadism due to Homozygous GNRH1 Mutations in the Mutational Hot Spots in the Region Encoding the Decapeptide.Clinical and Laboratory Characteristics of Hyperprolactinemia in Children and Adolescents: National SurveyGenotype-phenotype correlation, gonadal malignancy risk, gender preference, and testosterone/dihydrotestosterone ratio in steroid 5-alpha-reductase type 2 deficiency: a multicenter study from TurkeyEnzyme Replacement Therapy in HypophosphatasiaThe Significance of Thiol/Disulfide Homeostasis and Ischemia-modified Albumin Levels in Assessing Oxidative Stress in Obese Children and AdolescentsCatecholamine-Induced Myocarditis in a Child with PheochromocytomaA Rare Etiology of 46, XY Disorder of Sex Development and Adrenal Insufficiency: A case of MIRAGE syndrome caused by mutations in SAMD9 geneSubclinical Myocardial Dysfunction Demonstrated by Speckle Tracking Echocardiography in Children with Euthyroid Hashimoto’s ThyroiditisEvaluation of the relationship between short-term glycemic control and netrin-1, a urinary proximal tubular injury marker in children with type 1 diabetesA duplication upstream of SOX9 associated with SRY negative 46,XX ovotesticular disorder of sex development: A case reportPrevalence and associated phenotypes of PLXNA1 variants in normosmic and anosmic idiopathic hypogonadotropic hypogonadismEvaluation of the relationship between the one-hour plasma glucose concentration and beta-cell functions and cardiometabolic parameters during oral glucose tolerance test in obese children and adolescents
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description
investigador
@es
researcher
@en
wetenschapper
@nl
name
Eda Mengen
@en
Eda Mengen
@nl
type
label
Eda Mengen
@en
Eda Mengen
@nl
prefLabel
Eda Mengen
@en
Eda Mengen
@nl
P31
P496
0000-0003-1597-8418