GNRHR biallelic and digenic mutations in patients with normosmic congenital hypogonadotropic hypogonadism

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GNRHR biallelic and digenic mutations in patients with normosmic congenital hypogonadotropic hypogonadism

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2017 nî lūn-bûn

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2017年の論文

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2017年論文

@yue

2017年論文

@zh-hant

2017年論文

@zh-hk

2017年論文

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2017年論文

@zh-tw

2017年论文

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2017年论文

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2017年论文

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name

GNRHR biallelic and digenic mu ...... hypogonadotropic hypogonadism

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label

GNRHR biallelic and digenic mu ...... hypogonadotropic hypogonadism

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prefLabel

GNRHR biallelic and digenic mu ...... hypogonadotropic hypogonadism

@en

P1476

GNRHR biallelic and digenic mu ...... hypogonadotropic hypogonadism

@en

P2093

José M Aragüés

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Luísa Barros

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Margarida Bastos

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Nuno Vicente

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P2860

Congenital Hypogonadotropic Hypogonadism and Kallmann Syndrome: Past, Present, and Future

Nonsense-mediated mRNA decay: terminating erroneous gene expression

The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism.

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.

Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay.

GnRH receptor mutations in isolated gonadotropic deficiency.

A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor.

Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment.

HGVS Recommendations for the Description of Sequence Variants: 2016 Update.

Evidence of the importance of the first intracellular loop of prokineticin receptor 2 in receptor function.

P304

360-366

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P31

scholarly article

P356

10.1530/EC-17-0104

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P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Manuel C. Lemos

Davide Carvalho

Catarina I Gonçalves

P577

2017-06-13T00:00:00Z

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P698

28611058

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P921

birth defect

hypogonadism

P932

5527354

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