Two families with normosmic congenital hypogonadotropic hypogonadism and biallelic mutations in KISS1R (KISS1 receptor): clinical evaluation and molecular characterization of a novel mutation
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Reproduction, smell, and neurodevelopmental disorders: genetic defects in different hypogonadotropic hypogonadal syndromesA Multi-Oscillatory Circadian System Times Female ReproductionComprehensive Review on Kisspeptin and Its Role in Reproductive DisordersCentral hypogonadotropic hypogonadism: genetic complexity of a complex diseaseTooth agenesis and orofacial clefting: genetic brothers in arms?Development of a methodology for and assessment of pulsatile luteinizing hormone secretion in juvenile and adult male mice"Been hit twice": a novel bi-allelic heterozygous mutation in LHCGR.The genetics of human infertility by functional interrogation of SNPs in mice.Computational Analysis of Missense Variants of G Protein-Coupled Receptors Involved in the Neuroendocrine Regulation of ReproductionUse of genetic models of idiopathic hypogonadotrophic hypogonadism in mice and men to understand the mechanisms of diseasePrevalence of KISS1 Receptor mutations in a series of 603 patients with normosmic congenital hypogonadotrophic hypogonadism and characterization of novel mutations: a single-centre study.Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families.Estradiol Increases Glutamate and GABA Neurotransmission into GnRH Neurons via Retrograde NO-Signaling in Proestrous Mice during the Positive Estradiol Feedback Period
P2860
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P2860
Two families with normosmic congenital hypogonadotropic hypogonadism and biallelic mutations in KISS1R (KISS1 receptor): clinical evaluation and molecular characterization of a novel mutation
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2013 nî lūn-bûn
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2013 թուականին հրատարակուած գիտական յօդուած
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2013 թվականին հրատարակված գիտական հոդված
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2013年の論文
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2013年論文
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2013年論文
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2013年論文
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2013年論文
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2013年論文
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2013年论文
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name
Two families with normosmic co ...... terization of a novel mutation
@ast
Two families with normosmic co ...... terization of a novel mutation
@en
Two families with normosmic co ...... terization of a novel mutation
@nl
type
label
Two families with normosmic co ...... terization of a novel mutation
@ast
Two families with normosmic co ...... terization of a novel mutation
@en
Two families with normosmic co ...... terization of a novel mutation
@nl
prefLabel
Two families with normosmic co ...... terization of a novel mutation
@ast
Two families with normosmic co ...... terization of a novel mutation
@en
Two families with normosmic co ...... terization of a novel mutation
@nl
P2093
P2860
P50
P3181
P1433
P1476
Two families with normosmic co ...... terization of a novel mutation
@en
P2093
Anne Guiochon-Mantel
Bruno Francou
Jacques Young
Jérôme Bouligand
Jérôme Fagart
Marc Lombès
Ronan Roussel
P2860
P304
P3181
P356
10.1371/JOURNAL.PONE.0053896
P407
P577
2013-01-01T00:00:00Z