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Tiffany Busa

Showing results (41-50 of 74) with videos related to

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European Journal of Human Genetics : EJHG|January 28, 2026
De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorderCéline Jost, Tiffany Busa, Daniel Wegner, et al.
European Journal of Human Genetics : EJHG|October 29, 2015
A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGHCéline Poirsier, Justine Besseau-Ayasse, Caroline Schluth-Bolard, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 31, 2023
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouseAnne-Sophie Denommé-Pichon, Stephan C Collins, Ange-Line Bruel, 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.
European Journal of Medical Genetics|August 13, 2013
Finger creases lend a hand in Kabuki syndromeCaroline Michot, Carole Corsini, Damien Sanlaville, et al.
Clinical Genetics|February 16, 2022
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patientsBertrand Chesneau, Marion Aubert-Mucca, Félix Fremont, et al.
Journal of Medical Genetics|March 19, 2021
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiencyAbdellah Tebani, Bénédicte Sudrié-Arnaud, Ivana Dabaj, et al.
European Journal of Human Genetics : EJHG|November 16, 2021
Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital networkAnne-Sophie Denommé-Pichon, Antonio Vitobello, Robert Olaso, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 28, 2017
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndromeMarine Legendre, Véronique Abadie, Tania Attié-Bitach, et al.
Human Mutation|December 16, 2017
Autosomal recessive primary microcephaly due to ASPM mutations: An updatePascaline Létard, Séverine Drunat, Yoann Vial, et al.
Pageof 8

Showing results (41-50 of 74) with videos related to

Sort By:
Pageof 8
European Journal of Human Genetics : EJHG|January 28, 2026
De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorderCéline Jost, Tiffany Busa, Daniel Wegner, et al.
European Journal of Human Genetics : EJHG|October 29, 2015
A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGHCéline Poirsier, Justine Besseau-Ayasse, Caroline Schluth-Bolard, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 31, 2023
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouseAnne-Sophie Denommé-Pichon, Stephan C Collins, Ange-Line Bruel, 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.
European Journal of Medical Genetics|August 13, 2013
Finger creases lend a hand in Kabuki syndromeCaroline Michot, Carole Corsini, Damien Sanlaville, et al.
Clinical Genetics|February 16, 2022
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patientsBertrand Chesneau, Marion Aubert-Mucca, Félix Fremont, et al.
Journal of Medical Genetics|March 19, 2021
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiencyAbdellah Tebani, Bénédicte Sudrié-Arnaud, Ivana Dabaj, et al.
European Journal of Human Genetics : EJHG|November 16, 2021
Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital networkAnne-Sophie Denommé-Pichon, Antonio Vitobello, Robert Olaso, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 28, 2017
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndromeMarine Legendre, Véronique Abadie, Tania Attié-Bitach, et al.
Human Mutation|December 16, 2017
Autosomal recessive primary microcephaly due to ASPM mutations: An updatePascaline Létard, Séverine Drunat, Yoann Vial, et al.
Pageof 8