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UnknownA retrospective cohort study and review of the literature about germline mosaicism in Duchenne/Becker muscular dystrophy prenatal counseling: How to estimate the recurrence risk in clinical settings?
Not available
S-EPMC11735244 | biostudies-literature
UnknownMutations in the C-terminus of CDKL5: proceed with caution.
Not available
S-EPMC3895649 | biostudies-literature
UnknownMuscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).
Not available
S-EPMC5061416 | biostudies-literature
UnknownNon-invasive prenatal diagnosis of single gene disorders with enhanced relative haplotype dosage analysis for diagnostic implementation.
Not available
S-EPMC10124834 | biostudies-literature
UnknownDp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells.
Not available
S-EPMC4644319 | biostudies-literature
UnknownTargeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis.
Not available
S-EPMC6007397 | biostudies-literature
UnknownCould Digital PCR Be an Alternative as a Non-Invasive Prenatal Test for Trisomy 21: A Proof of Concept Study.
Not available
S-EPMC4864235 | biostudies-literature
UnknownA National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing.
Not available
S-EPMC6460575 | biostudies-literature
UnknownA new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy.
Not available
S-EPMC4691685 | biostudies-literature
UnknownDetection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing.
Not available
S-EPMC4463509 | biostudies-literature
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