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Human Molecular Genetics|September 18, 2023
Erythromelalgia caused by the missense mutation p.Arg220Pro in an alternatively spliced exon of SCN9A (NaV1.7)Jennifer R Deuis, Smitha Kumble, Angelo Keramidas, et al.
Obstetrics and Gynecology|March 10, 2023
Maternal Malignancy After Atypical Findings on Single-Nucleotide Polymorphism-Based Prenatal Cell-Free DNA ScreeningGeorgina Goldring, Cindy Trotter, Jeffrey T Meltzer, et al.
Journal of Neuromuscular Diseases|February 19, 2025
Distinct whole-body muscle MRI imaging patterns in PAX7-congenital myopathy: A case reportGöknur Haliloğlu, Sandra Donkervoort, Sibel Öz Yıldız, et al.
Neuromuscular Disorders : NMD|February 15, 2025
Neurogenic arthrogryposis, hypotonia, dysmorphic features plus malformation of cortical development further expands the ARL6IP1 loss-of-function phenotypeGöknur Haliloğlu, Sandra Donkervoort, Ülkühan Öztoprak, et al.
HGG Advances|February 22, 2025
Male proband with intractable seizures and a de novo start-codon-disrupting variant in GLULElizabeth Carbonell, Sarah L Stenton, Vijay S Ganesh, et al.
American Journal of Medical Genetics. Part A|March 10, 2023
A cryptic pathogenic NDUFV1 variant identified by RNA-seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changesSharmila Kiss, John Christodoulou, David R Thorburn, et al.
Medrxiv : the Preprint Server for Health Sciences|July 9, 2024
Early B-cell transcription factor-2 defect as a novel cause of lipodystrophy: disruption of the adipose tissue character and integrityMaria C Foss-Freitas, Donatella Gilio, Andre Monteiro da Rocha, et al.
American Journal of Medical Genetics. Part A|February 7, 2026
The Infant and Toddler Developmental Profile of Kleefstra SyndromeShanna L Yue, Rajapillai L I Pillai, Zoë Frazier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 28, 2026
The Evidence Aggregator: AI reasoning applied to rare disease diagnosticsHope Twede, Lynn Pais, Samantha Bryen, et al.
Human Molecular Genetics|September 8, 2021
Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humansNicole J Van Bergen, Katrina M Bell, Kirsty Carey, et al.
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