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Next generation sequencing in recurrent pregnancy loss-approaches and outcomes.
Rajcan-Separovic E. Rajcan-Separovic E. Eur J Med Genet. 2020 Feb;63(2):103644. doi: 10.1016/j.ejmg.2019.04.001. Epub 2019 Apr 13. Eur J Med Genet. 2020. PMID: 30991114 Review.
For the purpose of this review only studies with at least 2 pregnancy losses were included with NGS performed on complete families, or only on miscarriages, couples or females with RPL. ...Recurrence of specific mutations or affected genes in different studies was rare (e. …
For the purpose of this review only studies with at least 2 pregnancy losses were included with NGS performed on complete families, o …
Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series.
Lefèvre CR, Collardeau-Frachon S, Streichenberger N, Berenguer-Martin S, Clémenson A, Massardier J, Prieur F, Laurichesse H, Laffargue F, Acquaviva-Bourdain C, Froissart R, Pettazzoni M. Lefèvre CR, et al. J Inherit Metab Dis. 2024 Mar;47(2):255-269. doi: 10.1002/jimd.12692. Epub 2023 Nov 27. J Inherit Metab Dis. 2024. PMID: 38012812 Review.
Here we describe clinical, histological, enzymatic, and molecular findings of 10 cases from 8 families, the largest case series reported so far, of severe neuromuscular forms of GSD IV along with a literature review. Main antenatal features are: fetal akinesia de
Here we describe clinical, histological, enzymatic, and molecular findings of 10 cases from 8 families, the largest case series reported so …
Pre- and postnatal findings in Pena Shokeir I syndrome: case report and a review of the literature.
Katzenstein M, Goodman RM. Katzenstein M, et al. J Craniofac Genet Dev Biol. 1988;8(2):111-26. J Craniofac Genet Dev Biol. 1988. PMID: 3053754 Review.
The possibility of a primary hereditary malformation affecting the motor neuron cells of the spinal cord is postulated with the subsequent changes representing a fetal akinesia deformation sequence....
The possibility of a primary hereditary malformation affecting the motor neuron cells of the spinal cord is postulated with the subsequent c …