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Human Molecular Genetics|October 16, 2012
Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiencyRobin Lemmens, Alessandra Maugeri, Hans W M Niessen, et al.
European Journal of Medical Genetics|February 15, 2020
Next-generation sequencing in prenatal setting: Some examples of unexpected variant associationBerardo Rinaldi, Valerie Race, Anniek Corveleyn, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 1, 2019
Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotypeEline Blommaert, Romain Péanne, Natalia A Cherepanova, et al.
European Journal of Gastroenterology & Hepatology|May 11, 2013
Heterozygous α1-antitrypsin Z allele mutation in presumed healthy donor livers used for transplantationPhilip Roelandt, Pieter Dobbels, Mina Komuta, et al.
European Journal of Pediatrics|January 15, 2013
Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndromeHeidi Schaballie, Marleen Renard, Christiane Vermylen, et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology|November 22, 2020
Clinical characterization of the first Belgian SCN5A founder mutation cohortEwa Sieliwonczyk, Maaike Alaerts, Tomas Robyns, et al.
JMIR Medical Informatics|July 13, 2021
Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics CentersJoséphine Lantoine, Anne Brysse, Vinciane Dideberg, et al.
Frontiers in Immunology|October 7, 2022
Common variable immunodeficiency in two kindreds with heterogeneous phenotypes caused by novel heterozygous NFKB1 mutationsFrederik Staels, Kerstin De Keukeleere, Matias Kinnunen, et al.
Journal of Clinical Immunology|March 7, 2019
Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil DysfunctionLeen Moens, Mieke Gouwy, Barbara Bosch, et al.
The Journal of Allergy and Clinical Immunology|January 15, 2017
Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signalingIsabelle Melki, Yoann Rose, Carolina Uggenti, et al.
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