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David Genevieve

Showing results (1-10 of 51) with videos related to

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JMIR Research Protocols|April 3, 2023
Evaluation of the Effectiveness of Therapy for Anxiety in Williams Beuren Syndrome Using a Smartphone App: Protocol for a Single-Case ExperimentNatacha Lehman, Raphaël Trouillet, David Genevieve
Human Mutation|October 8, 2015
Mutation Update for COL2A1 Gene Variants Associated with Type II CollagenopathiesMouna Barat-Houari, Guillaume Sarrabay, Vincent Gatinois, et al.
Journal of Clinical Immunology|September 12, 2024
Abnormal Immune Profile in Individuals with Kabuki SyndromeMargot Comel, Norma Saad, Debapratim Sil, et al.
Clinical Epigenetics|January 12, 2025
Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignatureJan Fischer, Mariëlle Alders, Marcel M A M Mannens, et al.
NAR Genomics and Bioinformatics|November 5, 2025
ClinFly: an all-in-one method to translate, de-identify, and summarize medical reports in HPO formatLucas W Gauthier, Marjolaine Willems, Nicolas Chatron, et al.
Prenatal Diagnosis|January 1, 2024
Micro-CT and high-field MRI for studying very early post-mortem human fetal anatomy at 8 weeks of gestationAudrey Lamouroux, Maïda Cardoso, Célia Bottero, et al.
European Journal of Human Genetics : EJHG|April 11, 2013
Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counselingCarole Corsini, Martin Gencik, Marjolaine Willems, et al.
Journal of Neurosurgery. Pediatrics|August 4, 2009
Hypothalamic lipoma associated with severe obesity. Report of 2 casesStéphanie Puget, Matthew R Garnett, Delphine Leclercq, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 8, 2014
Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndromeElise Schaefer, Corinne Collet, David Genevieve, et al.
Journal of Medical Genetics|June 26, 2007
The C20orf133 gene is disrupted in a patient with Kabuki syndromeNicole M C Maas, Tom Van de Putte, Cindy Melotte, et al.
Pageof 6

Showing results (1-10 of 51) with videos related to

Sort By:
Pageof 6
JMIR Research Protocols|April 3, 2023
Evaluation of the Effectiveness of Therapy for Anxiety in Williams Beuren Syndrome Using a Smartphone App: Protocol for a Single-Case ExperimentNatacha Lehman, Raphaël Trouillet, David Genevieve
Human Mutation|October 8, 2015
Mutation Update for COL2A1 Gene Variants Associated with Type II CollagenopathiesMouna Barat-Houari, Guillaume Sarrabay, Vincent Gatinois, et al.
Journal of Clinical Immunology|September 12, 2024
Abnormal Immune Profile in Individuals with Kabuki SyndromeMargot Comel, Norma Saad, Debapratim Sil, et al.
Clinical Epigenetics|January 12, 2025
Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignatureJan Fischer, Mariëlle Alders, Marcel M A M Mannens, et al.
NAR Genomics and Bioinformatics|November 5, 2025
ClinFly: an all-in-one method to translate, de-identify, and summarize medical reports in HPO formatLucas W Gauthier, Marjolaine Willems, Nicolas Chatron, et al.
Prenatal Diagnosis|January 1, 2024
Micro-CT and high-field MRI for studying very early post-mortem human fetal anatomy at 8 weeks of gestationAudrey Lamouroux, Maïda Cardoso, Célia Bottero, et al.
European Journal of Human Genetics : EJHG|April 11, 2013
Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counselingCarole Corsini, Martin Gencik, Marjolaine Willems, et al.
Journal of Neurosurgery. Pediatrics|August 4, 2009
Hypothalamic lipoma associated with severe obesity. Report of 2 casesStéphanie Puget, Matthew R Garnett, Delphine Leclercq, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 8, 2014
Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndromeElise Schaefer, Corinne Collet, David Genevieve, et al.
Journal of Medical Genetics|June 26, 2007
The C20orf133 gene is disrupted in a patient with Kabuki syndromeNicole M C Maas, Tom Van de Putte, Cindy Melotte, et al.
Pageof 6