Misleading behavioural phenotype with adenylosuccinate lyase deficiency

Misleading behavioural phenotype with adenylosuccinate lyase deficiency

Item
http://www.wikidata.org/entity/Q34325342
The molecular basis of cognitive deficits in pervasive developmental disordersStructural and Biochemical Characterization of Human Adenylosuccinate Lyase (ADSL) and the R303C ADSL Deficiency-Associated MutationPractice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes.Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature.Metabolic disorders of purine metabolism affecting the nervous system.Adenylosuccinate lyase deficiency.A test for ancient selective sweeps and an application to candidate sites in modern humans.Molecular and Clinical Aspects of Angelman Syndrome.Testing for Ancient Selection Using Cross-population Allele Frequency Differentiation.Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiencyPhenotype-genotype discordance in congenital malformations with communication disorders resembling trisomy 18 (Edwards syndrome)Clinical and genetic aspects of Angelman syndrome.A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing.Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations.Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: a cellular model of adenylosuccinate lyase deficiency.Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary Movements.
P2860

Misleading behavioural phenotype with adenylosuccinate lyase deficiency

Item
http://www.wikidata.org/entity/Q34325342
description
2008 nî lūn-bûn
@nan
2008 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Misleading behavioural phenotype with adenylosuccinate lyase deficiency
@ast
Misleading behavioural phenotype with adenylosuccinate lyase deficiency
@en
Misleading behavioural phenotype with adenylosuccinate lyase deficiency
@nl
type
label
Misleading behavioural phenotype with adenylosuccinate lyase deficiency
@ast
Misleading behavioural phenotype with adenylosuccinate lyase deficiency
@en
Misleading behavioural phenotype with adenylosuccinate lyase deficiency
@nl
prefLabel
Misleading behavioural phenotype with adenylosuccinate lyase deficiency
@ast
Misleading behavioural phenotype with adenylosuccinate lyase deficiency
@en
Misleading behavioural phenotype with adenylosuccinate lyase deficiency
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
Misleading behavioural phenotype with adenylosuccinate lyase deficiency
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P932