Incidence of neuronal ceroid-lipofuscinoses in West Germany: variation of a method for studying autosomal recessive disorders.
about
Analysis of large-scale whole exome sequencing data to determine the prevalence of genetically-distinct forms of neuronal ceroid lipofuscinosis.The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations.Lifetime risk estimators in epidemiological studies of Krabbe Disease: Review and Monte Carlo comparisonPopulation carrier rates of pathogenic ARSA gene mutations: is metachromatic leukodystrophy underdiagnosed?Occurrence of and mortality from childhood neuronal ceroid lipofuscinoses in norway.The neuronal ceroid-lipofuscinoses.Batten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypesMolecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.The paediatric rheumatologist and orphan disease - a story without happy ending.The relative frequency of lysosomal storage disorders: a medical genetics referral laboratory's experience from India.Thalami and corona radiata in juvenile NCL (CLN3): a voxel-based morphometric study.
P2860
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P2860
Incidence of neuronal ceroid-lipofuscinoses in West Germany: variation of a method for studying autosomal recessive disorders.
description
1992 nî lūn-bûn
@nan
1992 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年学术文章
@wuu
1992年学术文章
@zh-cn
1992年学术文章
@zh-hans
1992年学术文章
@zh-my
1992年学术文章
@zh-sg
1992年學術文章
@yue
name
Incidence of neuronal ceroid-l ...... autosomal recessive disorders.
@ast
Incidence of neuronal ceroid-l ...... autosomal recessive disorders.
@en
Incidence of neuronal ceroid-l ...... autosomal recessive disorders.
@nl
type
label
Incidence of neuronal ceroid-l ...... autosomal recessive disorders.
@ast
Incidence of neuronal ceroid-l ...... autosomal recessive disorders.
@en
Incidence of neuronal ceroid-l ...... autosomal recessive disorders.
@nl
prefLabel
Incidence of neuronal ceroid-l ...... autosomal recessive disorders.
@ast
Incidence of neuronal ceroid-l ...... autosomal recessive disorders.
@en
Incidence of neuronal ceroid-l ...... autosomal recessive disorders.
@nl
P2093
P356
P1476
Incidence of neuronal ceroid-l ...... autosomal recessive disorders.
@en
P2093
P304
P356
10.1002/AJMG.1320420422
P577
1992-02-01T00:00:00Z