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Laurence Perrin

Showing results (41-50 of 81) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
GM3 synthase deficiency in non-Amish patientsSolveig Heide, Marie-Line Jacquemont, David Cheillan, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|June 17, 2024
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotypeCamilla Sarli, Liselot van der Laan, Jack Reilly, et al.
Journal of Medical Genetics|October 7, 2019
Increasing knowledge in <i>IGF1R</i> defects: lessons from 35 new patientsEloïse Giabicani, Marjolaine Willems, Virginie Steunou, et al.
American Journal of Medical Genetics. Part A|April 8, 2015
Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature reviewLaïla El Khattabi, Sylvie Jaillard, Joris Andrieux, et al.
Journal of Medical Genetics|August 16, 2023
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive casesCaroline Racine, Anne-Sophie Denommé-Pichon, Camille Engel, et al.
American Journal of Medical Genetics. Part A|November 21, 2025
9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent DysmorphismsAlessandro De Falco, Marie Vincent, Gaëlle Vieville, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 27, 2020
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonusMatias Wagner, Jonathan Lévy, Sabine Jung-Klawitter, et al.
Clinical Genetics|February 29, 2024
Cerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndromeAnna Gerasimenko, Cyril Mignot, Olivier Naggara, et al.
American Journal of Medical Genetics. Part A|September 9, 2016
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11Alice Goldenberg, Florence Riccardi, Aude Tessier, 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.
Pageof 9

Showing results (41-50 of 81) with videos related to

Sort By:
Pageof 9
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
GM3 synthase deficiency in non-Amish patientsSolveig Heide, Marie-Line Jacquemont, David Cheillan, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|June 17, 2024
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotypeCamilla Sarli, Liselot van der Laan, Jack Reilly, et al.
Journal of Medical Genetics|October 7, 2019
Increasing knowledge in <i>IGF1R</i> defects: lessons from 35 new patientsEloïse Giabicani, Marjolaine Willems, Virginie Steunou, et al.
American Journal of Medical Genetics. Part A|April 8, 2015
Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature reviewLaïla El Khattabi, Sylvie Jaillard, Joris Andrieux, et al.
Journal of Medical Genetics|August 16, 2023
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive casesCaroline Racine, Anne-Sophie Denommé-Pichon, Camille Engel, et al.
American Journal of Medical Genetics. Part A|November 21, 2025
9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent DysmorphismsAlessandro De Falco, Marie Vincent, Gaëlle Vieville, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 27, 2020
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonusMatias Wagner, Jonathan Lévy, Sabine Jung-Klawitter, et al.
Clinical Genetics|February 29, 2024
Cerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndromeAnna Gerasimenko, Cyril Mignot, Olivier Naggara, et al.
American Journal of Medical Genetics. Part A|September 9, 2016
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11Alice Goldenberg, Florence Riccardi, Aude Tessier, 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.
Pageof 9