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

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

Item
http://www.wikidata.org/entity/Q34217999
Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testingExploring the metabolic syndrome: Nonalcoholic fatty pancreas diseaseDeficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)Non-Alcoholic Fatty Pancreatic Disease: A Review of LiteratureJohanson-blizzard syndrome: loss of glucagon secretion response to insulin-induced hypoglycemia.A case of Johanson-Blizzard syndrome complicated by diabetes mellitus.Johanson-Blizzard syndrome: autopsy findings with special emphasis on hypopituitarism and review of the literature.Eponym: Johanson-Blizzard syndrome.The clinical significance of pancreatic steatosis.Mutations in the human UBR1 gene and the associated phenotypic spectrum.p600/UBR4 in the central nervous system.Pancreatic exocrine aplasia, clinical features of leprechaunism, and abnormal gonadotropin regulation.Recurrent Johanson-Blizzard syndrome in a triplet pregnancy complicated by urethral obstruction sequence: a clinical, molecular, and immunohistochemical approach.Johanson-Blizzard syndrome: hepatic and hematological features with novel genotype.Johanson-Blizzard syndrome.
P2860

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

Item
http://www.wikidata.org/entity/Q34217999
description
1979 nî lūn-bûn
@nan
1979 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1979 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1979年の論文
@ja
1979年論文
@yue
1979年論文
@zh-hant
1979年論文
@zh-hk
1979年論文
@zh-mo
1979年論文
@zh-tw
1979年论文
@wuu
name
The Johanson-Blizzard syndrome: case report and autopsy findings.
@ast
The Johanson-Blizzard syndrome: case report and autopsy findings.
@en
The Johanson-Blizzard syndrome: case report and autopsy findings.
@nl
type
label
The Johanson-Blizzard syndrome: case report and autopsy findings.
@ast
The Johanson-Blizzard syndrome: case report and autopsy findings.
@en
The Johanson-Blizzard syndrome: case report and autopsy findings.
@nl
prefLabel
The Johanson-Blizzard syndrome: case report and autopsy findings.
@ast
The Johanson-Blizzard syndrome: case report and autopsy findings.
@en
The Johanson-Blizzard syndrome: case report and autopsy findings.
@nl
P1433
P1476
P2093
P304
P31
P356
P433
P478
P577
P698
P921
P356
P1433
P1476
The Johanson-Blizzard syndrome: case report and autopsy findings.
@en
P2093
P304
P31
P356
P433
P478
P577
P698
P921