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Tiffany Busa

Showing results (21-30 of 74) with videos related to

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Human Mutation|April 12, 2018
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literatureMarie-Laure Vuillaume, Marie-Pierre Moizard, Sylvie Rossignol, et al.
European Journal of Human Genetics : EJHG|January 1, 2018
Regulatory variants of FOXG1 in the context of its topological domain organisationMana M Mehrjouy, Ana Carolina S Fonseca, Nadja Ehmke, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 12, 2019
Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)Pauline Arnaud, Nadine Hanna, Louise Benarroch, et al.
Orphanet Journal of Rare Diseases|December 5, 2021
Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndromeClarisse Billon, Salma Adham, Natalia Hernandez Poblete, et al.
Archives of Disease in Childhood. Fetal and Neonatal Edition|October 24, 2019
Phenotypic and genetic spectrum of alveolar capillary dysplasia: a retrospective cohort studyLaurélia Jourdan-Voyen, Renaud Touraine, Jean-Pierre Masutti, et al.
Clinical Genetics|April 23, 2021
Periodontal (formerly type VIII) Ehlers-Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotypeSalima El Chehadeh, Anne Legrand, Corinne Stoetzel, et al.
American Journal of Human Genetics|December 1, 2014
MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissectionsMathieu Barbier, Marie-Sylvie Gross, Mélodie Aubart, et al.
European Journal of Human Genetics : EJHG|December 1, 2016
Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable conditionAlma Kuechler, Johanna Christina Czeschik, Elisabeth Graf, et al.
American Journal of Medical Genetics. Part A|April 14, 2026
35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical EvaluationsMindy H Li, Deziree L Coleman, Kelsey Hogan, et al.
European Journal of Human Genetics : EJHG|December 20, 2017
CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assaysMarine Legendre, Montserrat Rodriguez-Ballesteros, Massimiliano Rossi, et al.
Pageof 8

Showing results (21-30 of 74) with videos related to

Sort By:
Pageof 8
Human Mutation|April 12, 2018
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literatureMarie-Laure Vuillaume, Marie-Pierre Moizard, Sylvie Rossignol, et al.
European Journal of Human Genetics : EJHG|January 1, 2018
Regulatory variants of FOXG1 in the context of its topological domain organisationMana M Mehrjouy, Ana Carolina S Fonseca, Nadja Ehmke, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 12, 2019
Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)Pauline Arnaud, Nadine Hanna, Louise Benarroch, et al.
Orphanet Journal of Rare Diseases|December 5, 2021
Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndromeClarisse Billon, Salma Adham, Natalia Hernandez Poblete, et al.
Archives of Disease in Childhood. Fetal and Neonatal Edition|October 24, 2019
Phenotypic and genetic spectrum of alveolar capillary dysplasia: a retrospective cohort studyLaurélia Jourdan-Voyen, Renaud Touraine, Jean-Pierre Masutti, et al.
Clinical Genetics|April 23, 2021
Periodontal (formerly type VIII) Ehlers-Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotypeSalima El Chehadeh, Anne Legrand, Corinne Stoetzel, et al.
American Journal of Human Genetics|December 1, 2014
MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissectionsMathieu Barbier, Marie-Sylvie Gross, Mélodie Aubart, et al.
European Journal of Human Genetics : EJHG|December 1, 2016
Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable conditionAlma Kuechler, Johanna Christina Czeschik, Elisabeth Graf, et al.
American Journal of Medical Genetics. Part A|April 14, 2026
35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical EvaluationsMindy H Li, Deziree L Coleman, Kelsey Hogan, et al.
European Journal of Human Genetics : EJHG|December 20, 2017
CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assaysMarine Legendre, Montserrat Rodriguez-Ballesteros, Massimiliano Rossi, et al.
Pageof 8