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Bertrand Isidor

Showing results (121-130 of 365) with videos related to

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Molecular Syndromology|July 11, 2017
Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's ViewBeatrice De Maria, Tresia de Jager, Caitlin Sarubbi, et al.
American Journal of Human Genetics|January 6, 2018
Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial AneurysmRomain Bourcier, Solena Le Scouarnec, Stéphanie Bonnaud, et al.
Clinical Genetics|December 4, 2023
CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature reviewHussam Al-Kateb, P Y Billie Au, Siren Berland, et al.
Brain : a Journal of Neurology|July 27, 2022
RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiologyMehdi Benkirane, Dylan Da Cunha, Cecilia Marelli, et al.
Kidney International|May 25, 2023
A wave of deep intronic mutations in X-linked Alport syndromeMarie Boisson, Christelle Arrondel, Nicolas Cagnard, et al.
American Journal of Human Genetics|December 17, 2019
Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain AbnormalitiesNoriko Miyake, Hidehisa Takahashi, Kazuyuki Nakamura, et al.
Communications Biology|July 8, 2024
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephalyAmama Ghaffar, Tehmeena Akhter, Petter Strømme, et al.
European Journal of Medical Genetics|March 7, 2024
Penetrance, variable expressivity and monogenic neurodevelopmental disordersServane de Masfrand, Benjamin Cogné, Mathilde Nizon, et al.
Journal of Inherited Metabolic Disease|July 2, 2024
MRI in LARS1 deficiency-Spectrum, patterns, and correlation with acute neurological deteriorationNicole Hammann, Dominic Lenz, Alyssa Bianzano, et al.
American Journal of Medical Genetics. Part A|July 24, 2012
Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotypeJudith Allanson, Amanda Smith, Heather Hare, et al.
Pageof 37

Showing results (121-130 of 365) with videos related to

Sort By:
Pageof 37
Molecular Syndromology|July 11, 2017
Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's ViewBeatrice De Maria, Tresia de Jager, Caitlin Sarubbi, et al.
American Journal of Human Genetics|January 6, 2018
Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial AneurysmRomain Bourcier, Solena Le Scouarnec, Stéphanie Bonnaud, et al.
Clinical Genetics|December 4, 2023
CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature reviewHussam Al-Kateb, P Y Billie Au, Siren Berland, et al.
Brain : a Journal of Neurology|July 27, 2022
RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiologyMehdi Benkirane, Dylan Da Cunha, Cecilia Marelli, et al.
Kidney International|May 25, 2023
A wave of deep intronic mutations in X-linked Alport syndromeMarie Boisson, Christelle Arrondel, Nicolas Cagnard, et al.
American Journal of Human Genetics|December 17, 2019
Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain AbnormalitiesNoriko Miyake, Hidehisa Takahashi, Kazuyuki Nakamura, et al.
Communications Biology|July 8, 2024
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephalyAmama Ghaffar, Tehmeena Akhter, Petter Strømme, et al.
European Journal of Medical Genetics|March 7, 2024
Penetrance, variable expressivity and monogenic neurodevelopmental disordersServane de Masfrand, Benjamin Cogné, Mathilde Nizon, et al.
Journal of Inherited Metabolic Disease|July 2, 2024
MRI in LARS1 deficiency-Spectrum, patterns, and correlation with acute neurological deteriorationNicole Hammann, Dominic Lenz, Alyssa Bianzano, et al.
American Journal of Medical Genetics. Part A|July 24, 2012
Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotypeJudith Allanson, Amanda Smith, Heather Hare, et al.
Pageof 37