Results 231 to 237 of about 9,755 (237)

Quantitative analysis ofSMN1andSMN2genes based on DHPLC: A highly efficient and reliable carrier-screening test

Human Mutation, 2005
Chia-Cheng Hung, Hung Li, Chien-Nan Lee   +2 more
exaly  

Assessment of Spinal Muscular Atrophy Carrier Status by Determining SMN1 Copy Number Using Dried Blood Spots

International Journal of Neonatal Screening, 2020
Yogik Onky Silvana Wijaya, Nur Imma Fatimah Harahap, Emma Tabe Eko Niba   +2 more
exaly  

SMN1 duplications contribute to sporadic amyotrophic lateral sclerosis susceptibility: Evidence from a meta-analysis

Journal of the Neurological Sciences, 2014
Xue-Bin Wang, Fang Zheng
exaly  

An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)

Human Mutation, 2000
Brunhilde Wirth
exaly  

Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy

Human Mutation, 2005
Utz Fischer, Brunhilde Wirth
exaly  

Quantification of SMN1 and SMN2 genes by capillary electrophoresis for diagnosis of spinal muscular atrophy

Electrophoresis, 2008
Chun-Chi Wang, Jérôme P Ferrance, Yung-Fu Chang   +2 more
exaly  

SMN1 gene duplications are more frequent in patients with progressive muscular atrophy

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2013
Magdalena Kuźma-Kozakiewicz, Maria Jędrzejowska, Beata Kaźmierczak   +2 more
exaly