A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy.
about
Carrier screening for spinal muscular atrophy (SMA) in 107,611 pregnant women during the period 2005-2009: a prospective population-based cohort studyPrevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review.A multi-source approach to determine SMA incidence and research ready populationMotor neuron disease. SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy.Frequency of SMN1 deletion carriers in a Mestizo population of central and northeastern Mexico: A pilot study.Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases.Homozygous SMN2 deletion is a protective factor in the Swedish ALS population.New multiplex real-time PCR approach to detect gene mutations for spinal muscular atrophy.Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis.Indirect estimation of the prevalence of spinal muscular atrophy Type I, II, and III in the United States.Gender Effects on the Clinical Phenotype in Japanese Patients with Spinal Muscular Atrophy.
P2860
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P2860
A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy.
description
2009 nî lūn-bûn
@nan
2009 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
A population-based study of ge ...... with spinal muscular atrophy.
@ast
A population-based study of ge ...... with spinal muscular atrophy.
@en
A population-based study of ge ...... with spinal muscular atrophy.
@nl
type
label
A population-based study of ge ...... with spinal muscular atrophy.
@ast
A population-based study of ge ...... with spinal muscular atrophy.
@en
A population-based study of ge ...... with spinal muscular atrophy.
@nl
prefLabel
A population-based study of ge ...... with spinal muscular atrophy.
@ast
A population-based study of ge ...... with spinal muscular atrophy.
@en
A population-based study of ge ...... with spinal muscular atrophy.
@nl
P2093
P1433
P1476
A population-based study of ge ...... with spinal muscular atrophy.
@en
P2093
Anna-Karin Kroksmark
Eva Arkblad
Mirja Henricsson
Már Tulinius
Niklas Darin
P304
P356
10.1111/J.1651-2227.2008.01201.X
P407
P577
2009-01-20T00:00:00Z