Eponym: Johanson-Blizzard syndrome. - Wikidata - wikimedia - TriplyDB

Eponym: Johanson-Blizzard syndrome.

Eponym: Johanson-Blizzard syndrome.

http://www.wikidata.org/entity/Q37765828

about

The N-end rule pathway Is a fatty pancreas a banal lesion?A Case with Complete Pancreatic Aplasia Suggestive of Johanson-Blizzard Syndrome.Pancytopenia from severe cobalamin (vitamin B12) deficiency in Johanson-Blizzard syndrome.Oblique facial clefts in Johanson-Blizzard syndrome

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Eponym: Johanson-Blizzard syndrome.

http://www.wikidata.org/entity/Q37765828

description

article científic

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article scientifique

@fr

articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 17 June 2010

@en

vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

@cs

name

Eponym: Johanson-Blizzard syndrome.

@en

Eponym: Johanson-Blizzard syndrome.

@nl

type

label

Eponym: Johanson-Blizzard syndrome.

@en

Eponym: Johanson-Blizzard syndrome.

@nl

prefLabel

Eponym: Johanson-Blizzard syndrome.

@en

Eponym: Johanson-Blizzard syndrome.

@nl

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S00431-010-1240-5

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European Journal of Pediatrics

P1476

Eponym: Johanson-Blizzard syndrome.

@en

P2093

Mozhgan Sabbaghian

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

Zhifeng Liu

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

P2860

Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

Diabetes mellitus and profound insulin resistance in Johanson-Blizzard syndrome.

Johanson-Blizzard syndrome--a case study, behavioral manifestations, and successful treatment strategies.

Perioperative care of the child with the Johanson-Blizzard syndrome.

A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption.

The Johanson-Blizzard syndrome: case report and autopsy findings.

The ubiquitin system: from basic mechanisms to the patient bed.

Johanson-blizzard syndrome: loss of glucagon secretion response to insulin-induced hypoglycemia.

A case of Johanson-Blizzard syndrome complicated by diabetes mellitus.

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s00431-010-1240-5

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179-183

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scholarly article

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10.1007/S00431-010-1240-5

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2

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170

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2010-06-17T00:00:00Z

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20556422

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