Hormonal and genetical assessment of a Japanese girl with weaver syndrome. - Wikidata - wikimedia - TriplyDB

Hormonal and genetical assessment of a Japanese girl with weaver syndrome.

Hormonal and genetical assessment of a Japanese girl with weaver syndrome.

http://www.wikidata.org/entity/Q37732841

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Hormonal and genetical assessment of a Japanese girl with weaver syndrome.

http://www.wikidata.org/entity/Q37732841

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article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 07 July 2004

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Hormonal and genetical assessment of a Japanese girl with weaver syndrome.

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Hormonal and genetical assessment of a Japanese girl with weaver syndrome.

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type

label

Hormonal and genetical assessment of a Japanese girl with weaver syndrome.

@en

Hormonal and genetical assessment of a Japanese girl with weaver syndrome.

@nl

prefLabel

Hormonal and genetical assessment of a Japanese girl with weaver syndrome.

@en

Hormonal and genetical assessment of a Japanese girl with weaver syndrome.

@nl

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Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology

P1476

Hormonal and genetical assessment of a Japanese girl with weaver syndrome.

@en

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Ikuko Mohri

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

Keiichi Ozono

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Masako Taniike

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Naomichi Matsumoto

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

Shigeo Nakajima

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Sotaro Mushiake

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Yoko Miyoshi

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P2860

NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes

A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly

Weaver syndrome

Sotos syndrome: a study of the diagnostic criteria and natural history.

Haploinsufficiency of NSD1 causes Sotos syndrome.

Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene.

CEREBRAL GIGANTISM IN CHILDHOOD. A SYNDROME OF EXCESSIVELY RAPID GROWTH AND ACROMEGALIC FEATURES AND A NONPROGRESSIVE NEUROLOGIC DISORDER.

Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.

Effects of estrogen on growth plate senescence and epiphyseal fusion.

Weaver syndrome in two Japanese children.

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17-23

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scholarly article

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10.1297/CPE.13.17

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1

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13

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2004-07-07T00:00:00Z

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262020822

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24790293

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4004909

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