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Allan Bayat

Showing results (81-90 of 130) with videos related to

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European Journal of Human Genetics : EJHG|October 28, 2021
ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrumAnge-Line Bruel, Antonio Vitobello, Isabelle Thiffault, et al.
Epilepsia|March 14, 2025
Variants in ATP6V0C are associated with Dravet-like developmental and epileptic encephalopathyMarlene Rong, Paula T Marques, Quratulain Zulfiqar Ali, et al.
Annals of Neurology|April 16, 2023
KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological PropertiesMaria Cristina Cioclu, Ilaria Mosca, Paolo Ambrosino, et al.
American Journal of Medical Genetics. Part A|September 23, 2023
Growth charts in DYRK1A syndromePierre-Louis Lanvin, Thomas Goronflot, Bertrand Isidor, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 13, 2019
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristicsAllan Bayat, Alexej Knaus, Annika Wollenberg Juul, et al.
Nature Communications|January 13, 2026
Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humansClaudia M Bonardi, Rikke S Møller, Nuria Ruiz-Reig, et al.
American Journal of Medical Genetics. Part A|October 12, 2020
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomaliesSara Giangiobbe, Stefano Giuseppe Caraffi, Ivan Ivanovski, et al.
Journal of Inherited Metabolic Disease|June 27, 2020
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literatureDevon L Johnstone, Thi Tuyet Mai Nguyen, Jessica Zambonin, et al.
Clinical Genetics|July 1, 2021
Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular featuresJair Antonio Tenorio-Castaño, Pedro Arias, Alberto Fernández-Jaén, et al.
American Journal of Medical Genetics. Part A|February 11, 2022
Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotoniaMatthew A Lines, Paula Goldenberg, Ashley Wong, et al.
Pageof 13

Showing results (81-90 of 130) with videos related to

Sort By:
Pageof 13
European Journal of Human Genetics : EJHG|October 28, 2021
ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrumAnge-Line Bruel, Antonio Vitobello, Isabelle Thiffault, et al.
Epilepsia|March 14, 2025
Variants in ATP6V0C are associated with Dravet-like developmental and epileptic encephalopathyMarlene Rong, Paula T Marques, Quratulain Zulfiqar Ali, et al.
Annals of Neurology|April 16, 2023
KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological PropertiesMaria Cristina Cioclu, Ilaria Mosca, Paolo Ambrosino, et al.
American Journal of Medical Genetics. Part A|September 23, 2023
Growth charts in DYRK1A syndromePierre-Louis Lanvin, Thomas Goronflot, Bertrand Isidor, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 13, 2019
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristicsAllan Bayat, Alexej Knaus, Annika Wollenberg Juul, et al.
Nature Communications|January 13, 2026
Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humansClaudia M Bonardi, Rikke S Møller, Nuria Ruiz-Reig, et al.
American Journal of Medical Genetics. Part A|October 12, 2020
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomaliesSara Giangiobbe, Stefano Giuseppe Caraffi, Ivan Ivanovski, et al.
Journal of Inherited Metabolic Disease|June 27, 2020
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literatureDevon L Johnstone, Thi Tuyet Mai Nguyen, Jessica Zambonin, et al.
Clinical Genetics|July 1, 2021
Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular featuresJair Antonio Tenorio-Castaño, Pedro Arias, Alberto Fernández-Jaén, et al.
American Journal of Medical Genetics. Part A|February 11, 2022
Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotoniaMatthew A Lines, Paula Goldenberg, Ashley Wong, et al.
Pageof 13