about
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 syndromeHypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor.Distribution 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.Wolcott-Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literature.Neurokinin B signalling in human puberty.Molecular causes of hypogonadotropic hypogonadism.Novel inactivating mutations of the DCAF17 gene in American and Turkish families cause male infertility and female subfertility in the mouse model.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.Molecular genetic studies in a case series of isolated hypoaldosteronism due to biosynthesis defects or aldosterone resistance.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 hypogonadismGenetics of Hypogonadotropic HypogonadismA rare variant in human fibroblast activation protein associated with ER stress, loss of enzymatic function and loss of cell surface localisationPrevalence and associated phenotypes of PLXNA1 variants in normosmic and anosmic idiopathic hypogonadotropic hypogonadism
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P50
description
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Leman Damla Kotan
@ast
Leman Damla Kotan
@en
Leman Damla Kotan
@es
Leman Damla Kotan
@nl
Leman Damla Kotan
@sl
type
label
Leman Damla Kotan
@ast
Leman Damla Kotan
@en
Leman Damla Kotan
@es
Leman Damla Kotan
@nl
Leman Damla Kotan
@sl
prefLabel
Leman Damla Kotan
@ast
Leman Damla Kotan
@en
Leman Damla Kotan
@es
Leman Damla Kotan
@nl
Leman Damla Kotan
@sl
P106
P31
P496
0000-0001-6176-8986