High prevalence of Berardinelli-Seip Congenital Lipodystrophy in Rio Grande do Norte State, Northeast Brazil.

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Nurses' knowledge about Berardinelli-Seip Congenital Lipodystrophy.Causes of death in patients with Berardinelli-Seip congenital generalized lipodystrophy.Impairment of respiratory muscle strength in Berardinelli-Seip congenital lipodystrophy subjects

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P2860

High prevalence of Berardinelli-Seip Congenital Lipodystrophy in Rio Grande do Norte State, Northeast Brazil.

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http://www.wikidata.org/entity/Q42377398

description

2017 nî lūn-bûn

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2017年の論文

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2017年論文

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2017年論文

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2017年論文

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2017年論文

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2017年論文

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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

High prevalence of Berardinell ...... Norte State, Northeast Brazil.

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High prevalence of Berardinell ...... Norte State, Northeast Brazil.

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High prevalence of Berardinell ...... Norte State, Northeast Brazil.

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High prevalence of Berardinell ...... Norte State, Northeast Brazil.

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High prevalence of Berardinell ...... Norte State, Northeast Brazil.

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High prevalence of Berardinell ...... Norte State, Northeast Brazil.

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P1476

High prevalence of Berardinell ...... Norte State, Northeast Brazil

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P2093

Adriana Lúcia Meireles

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Josivan Gomes de Lima

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

Lázaro Batista de Azevedo Medeiros

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Thaiza Teixeira Xavier Nobre

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Verônica Kristina Cândido Dantas

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P2860

Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects

Clinical and laboratory data of a large series of patients with congenital generalized lipodystrophy.

A gene for congenital generalized lipodystrophy maps to human chromosome 9q34.

Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.

Lipodystrophies.

An undiagnosed endocrinometabolic syndrome: report of 2 cases.

Acquired and inherited lipodystrophies.

Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene.

Seipin is necessary for normal brain development and spermatogenesis in addition to adipogenesis.

Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation.

P2888

s13098-017-0280-7

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scholarly article

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10.1186/S13098-017-0280-7

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Lucymara Fassarella Agnez-Lima

Julliane Tamara Araújo de Melo Campos

Aquiles Sales Craveiro Sarmento

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2017-10-13T00:00:00Z

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1092219641

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29046728

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birth defect

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5640922

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High prevalence of Berardinelli-Seip Congenital Lipodystrophy in Rio Grande do Norte State, Northeast Brazil.

about

P2860

P2860

High prevalence of Berardinelli-Seip Congenital Lipodystrophy in Rio Grande do Norte State, Northeast Brazil.

description

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type

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P1433

P1476

P2093

P2860

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P356

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P356

P478

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P932