Associated Papers
Rare DMD Gene Duplication in a Lebanese Child With Duchene Muscular Dystrophy.
Assaf N et al.
Clinical Case Reports, 2026
Functional analysis of variants in DMD exon/intron 10 predicted to affect splicing.
Zhang X et al.
Journal of Human Genetics, 2022
The role of junctophilin proteins in cellular function.
Lehnart SE et al.
Physiological Reviews, 2022
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32528171 (PubMed )
Supplement: 41436_2020_840_MOESM10_ESM.xlsx › .
Identification of rare copy number variants in high burden schizophrenia families.
Van Den Bossche MJ et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2013
Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability.
Qiao Y et al.
Clinical Genetics, 2013
Mutations in the TSC2 gene: analysis of the complete coding sequence using the protein truncation test (PTT).
van Bakel I et al.
Human Molecular Genetics, 1997
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