Mutations in pseudohypoparathyroidism 1a and pseudopseudohypoparathyroidism in ethnic Chinese. - Wikidata - wikimedia - TriplyDB

Mutations in pseudohypoparathyroidism 1a and pseudopseudohypoparathyroidism in ethnic Chinese.

Mutations in pseudohypoparathyroidism 1a and pseudopseudohypoparathyroidism in ethnic Chinese.

http://www.wikidata.org/entity/Q35126234

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A Case of Primary Hypogonadism with Features of Albright's Syndrome.Clinical and genetic characteristics of Pseudohypoparathyroidism in the Chinese population.

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P2860

Mutations in pseudohypoparathyroidism 1a and pseudopseudohypoparathyroidism in ethnic Chinese.

http://www.wikidata.org/entity/Q35126234

description

2014 nî lūn-bûn

@nan

2014 թուականի Մարտին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի մարտին հրատարակված գիտական հոդված

@hy

2014年の論文

@ja

2014年論文

@yue

2014年論文

@zh-hant

2014年論文

@zh-hk

2014年論文

@zh-mo

2014年論文

@zh-tw

2014年论文

@wuu

name

Mutations in pseudohypoparathy ...... athyroidism in ethnic Chinese.

@ast

Mutations in pseudohypoparathy ...... athyroidism in ethnic Chinese.

@en

type

label

Mutations in pseudohypoparathy ...... athyroidism in ethnic Chinese.

@ast

Mutations in pseudohypoparathy ...... athyroidism in ethnic Chinese.

@en

prefLabel

Mutations in pseudohypoparathy ...... athyroidism in ethnic Chinese.

@ast

Mutations in pseudohypoparathy ...... athyroidism in ethnic Chinese.

@en

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JOURNAL.PONE.0090640

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Mutations in pseudohypoparathy ...... athyroidism in ethnic Chinese.

@en

P2093

Chi-Yu Huang

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

Chiung-Ling Lin

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

Daw-Yang Hwang

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

Fu-Sung Lo

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

Hui-Pin Hsiao

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

Hung-Chun Chen

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Jeng-Daw Tsai

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Mei-Chyn Chao

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

Shin-Lin Shih

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

Shuan-Pei Lin

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

P2860

Evidence for a pioneer round of mRNA translation: mRNAs subject to nonsense-mediated decay in mammalian cells are bound by CBP80 and CBP20

A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib

A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS

Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification

Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance

Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis

Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism.

CYP17A1 intron mutation causing cryptic splicing in 17α-hydroxylase deficiency

Isolation and characterization of the human Gs alpha gene

RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer.

P304

e90640

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scholarly article

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10.1371/JOURNAL.PONE.0090640

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3

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260997017

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24651309

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3961212

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