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The Journal of Pediatrics|March 29, 2013
Clinical and molecular spectrum of renal malformations in Kabuki syndromeJean-Benoît Courcet, Laurence Faivre, Caroline Michot, et al.The Journal of Biological Chemistry|October 11, 2013
New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanismsAnna Bode, Sian-Elin Wood, Jonathan G L Mullins, et al.Clinical Genetics|December 5, 2020
Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutationsAurore Garde, Jenny Cornaton, Arthur Sorlin, et al.European Journal of Human Genetics : EJHG|February 20, 2020
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20Aurélien Juven, Sophie Nambot, Amélie Piton, et al.Journal of Medical Genetics|January 26, 2017
STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disabilityDaphné Lehalle, Anne-Laure Mosca-Boidron, Amber Begtrup, et al.Science Translational Medicine|May 4, 2022
The small-molecule SMARt751 reverses Mycobacterium tuberculosis resistance to ethionamide in acute and chronic mouse models of tuberculosisMarion Flipo, Rosangela Frita, Marilyne Bourotte, et al.Journal of Medical Genetics|February 21, 2018
Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patientsMathilde Lefebvre, Anne Dieux-Coeslier, Geneviève Baujat, et al.Clinical Genetics|March 26, 2018
Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French casesS Baer, A Afenjar, T Smol, et al.American Journal of Medical Genetics. Part A|April 21, 2022
Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patientsDaphné Lehalle, Ange-Line Bruel, Antonio Vitobello, et al.Medrxiv : the Preprint Server for Health Sciences|April 29, 2025
Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disordersJoachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji, et al.Pageof 14