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Genetics and Molecular Biology, ISSN 1678-4685, 07/2018, Volume 41, Issue 3, pp. 545 - 554
Abstract Our aim was to develop and apply a comprehensive noninvasive prenatal test (NIPT) by using high-coverage targeted next-generation sequencing to... 
BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY
Journal Article
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 2014, Volume 23, Issue 15, pp. 4103 - 4110
Journal Article
Journal of Neuromuscular Diseases, ISSN 2214-3599, 2014, Volume 1, Issue 2, pp. 169 - 179
Congenital muscular dystrophy (CMD) type 1A (MDC1A) is caused by recessive mutations in laminin-α2 (LAMA2) gene. Laminin-211, a heterotrimeric glycoprotein... 
Large duplication | Large deletion | Review | LAMA2 | Congenital muscular dystrophy
Journal Article
Muscle & Nerve, ISSN 0148-639X, 08/2017, Volume 56, Issue 2, pp. E8 - E9
Journal Article
Diagnostic molecular pathology : the American journal of surgical pathology, part B, ISSN 1052-9551, 09/2004, Volume 13, Issue 3, pp. 167 - 171
Journal Article
Muscle & Nerve, ISSN 0148-639X, 05/2007, Volume 35, Issue 5, pp. 670 - 674
Journal Article
Journal Article