Aim: We aimed to share our genetic test results for SMA since 2001, and compare the commonly used screening and diagnostic methods for SMA
WOS: 000390849300005PubMed ID: 27843464Objective To describe 12 yr experience of molecular genetic d...
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by homozygous ...
peer reviewedSpinal muscular atrophy (SMA) is a monogenic disorder caused by loss of function mutati...
Aim: We aimed to share our genetic test results for SMA since 2001, and compare the commonly used sc...
The spinal muscular atrophies are a group of disorders characterized by flaccid limb weakness. It is...
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by degen...
Spinal muscular atrophy (SMA) is an autosomal recessive inherited disorder caused by alterations in ...
SummaryProximal spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder cause...
Genetic testing for SMA diagnosis, newborn screening, and carrier screening has become a significant...
With a prevalence of approximately 1/10 000, and a carrier frequency of 1/40-1/60 the proximal spina...
atrophy; Spinal muscular atrophy with respiratory distress type 1 Objectives: To determine the incid...
Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder characterised by the degene...
Spinal muscular atrophy (SMA) is an autosomal recessive inherited disorder caused by alterations in ...
Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by degeneration of the...
Spinal muscular atrophy (SMA) is a monogenic disorder caused by loss of function mutations in the su...
WOS: 000390849300005PubMed ID: 27843464Objective To describe 12 yr experience of molecular genetic d...
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by homozygous ...
peer reviewedSpinal muscular atrophy (SMA) is a monogenic disorder caused by loss of function mutati...
Aim: We aimed to share our genetic test results for SMA since 2001, and compare the commonly used sc...
The spinal muscular atrophies are a group of disorders characterized by flaccid limb weakness. It is...
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by degen...
Spinal muscular atrophy (SMA) is an autosomal recessive inherited disorder caused by alterations in ...
SummaryProximal spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder cause...
Genetic testing for SMA diagnosis, newborn screening, and carrier screening has become a significant...
With a prevalence of approximately 1/10 000, and a carrier frequency of 1/40-1/60 the proximal spina...
atrophy; Spinal muscular atrophy with respiratory distress type 1 Objectives: To determine the incid...
Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder characterised by the degene...
Spinal muscular atrophy (SMA) is an autosomal recessive inherited disorder caused by alterations in ...
Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by degeneration of the...
Spinal muscular atrophy (SMA) is a monogenic disorder caused by loss of function mutations in the su...
WOS: 000390849300005PubMed ID: 27843464Objective To describe 12 yr experience of molecular genetic d...
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by homozygous ...
peer reviewedSpinal muscular atrophy (SMA) is a monogenic disorder caused by loss of function mutati...
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