Associated Papers
Diagnostic impact of whole exome sequencing in neurometabolic disorders in Syrian children: a single center experience.
Al Khudari R et al.
Orphanet Journal of Rare Diseases, 2025
Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice.
Sallevelt SCEH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33742171 (PubMed )
Supplement: 41436_2021_1116_MOESM6_ESM.xlsx › Sheet1
Recent progress in the genetics of motor neuron disease.
Finsterer J et al.
European Journal of Medical Genetics, 2014
Juvenile-onset motor neuron disease caused by novel mutations in β-hexosaminidase.
Pierson TM et al.
Molecular Genetics and Metabolism, 2013
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