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Neuromuscular Disorders : NMD|July 19, 2018
A new case expanding the mutation and phenotype spectrum of TMEM5-related alpha-dystroglycanopathyAnn-Kathrin Zaum, Konstantinos Kolokotronis, Wolfram Kress, et al.
European Journal of Medical Genetics|May 2, 2024
DPF2-related Coffin-Siris syndrome type 7 in two generationsKonstantinos Kolokotronis, Aude-Annick Suter, Ivan Ivanovski, et al.
Journal of Lipid Research|October 27, 2023
The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophyAndreas J Hülsmeier, Sandra P Toelle, Peter Bellstedt, et al.
Journal of Clinical Medicine|July 15, 2020
New Insights on Genetic Diagnostics in Cardiomyopathy and Arrhythmia Patients Gained by Stepwise Exome Data AnalysisKonstantinos Kolokotronis, Natalie Pluta, Eva Klopocki, et al.
Human Mutation|March 30, 2019
Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotypeKonstantinos Kolokotronis, Jirko Kühnisch, Eva Klopocki, et al.
Frontiers in Medicine|January 26, 2026
Genotype-phenotype correlations in 18 European patients with heterozygous KIF1A variants: key considerations for assessing KIF1A variant causalityAnna Uhrova Meszarosova, Elea Galiart, Petra Lassuthova, et al.
Clinical Genetics|October 1, 2019
Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3Jirko Kühnisch, Christopher Herbst, Nadya Al-Wakeel-Marquard, et al.
Clinical Epigenetics|April 10, 2026
Chromatinopathies: clinically overlapping disorders, revealing novel variants and their DNA methylation signaturesAsuman Koparir, Jennifer Kerkhof, Jessica Rzasa, et al.
Brain : a Journal of Neurology|September 28, 2021
MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinaseOsorio Lopes Abath Neto, Livija Medne, Sandra Donkervoort, et al.
American Journal of Human Genetics|October 1, 2025
A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3BEsra Erkut, Cherith Somerville, Marci L B Schwartz, et al.
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