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Helen Cox

Showing results (181-190 of 208) with videos related to

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European Journal of Human Genetics : EJHG|February 20, 2009
A large-scale mutation search reveals genetic heterogeneity in 3M syndromeCéline Huber, Anee-Lise Delezoide, Fabien Guimiot, et al.
Prenatal Diagnosis|November 3, 2017
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencingKaren L Stals, Matthew Wakeling, Júlia Baptista, et al.
European Journal of Human Genetics : EJHG|January 13, 2021
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotypeMeena Balasubramanian, Alexander J M Dingemans, Shadi Albaba, et al.
Brain : a Journal of Neurology|February 22, 2024
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformationsLucia Laugwitz, Fubo Cheng, Stephan C Collins, et al.
American Journal of Human Genetics|February 29, 2020
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental DisordersSónia Barbosa, Stephanie Greville-Heygate, Maxime Bonnet, et al.
Plos Pathogens|April 4, 2023
Back-to-Africa introductions of Mycobacterium tuberculosis as the main cause of tuberculosis in Dar es Salaam, TanzaniaMichaela Zwyer, Liliana K Rutaihwa, Etthel Windels, et al.
F1000Research|April 9, 2021
Local adaptation in populations of <i>Mycobacterium tuberculosis</i> endemic to the Indian Ocean RimFabrizio Menardo, Liliana K Rutaihwa, Michaela Zwyer, et al.
Brain : a Journal of Neurology|August 20, 2021
Biallelic PI4KA variants cause neurological, intestinal and immunological diseaseClaire G Salter, Yiying Cai, Bernice Lo, et al.
Science Advances|May 1, 2023
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafishVictoria Patterson, Farid Ullah, Laura Bryant, et al.
Lancet (London, England)|September 16, 2023
Scientific advances and the end of tuberculosis: a report from the Lancet Commission on TuberculosisMichael Reid, Yvan Jean Patrick Agbassi, Nimalan Arinaminpathy, et al.
Pageof 21

Showing results (181-190 of 208) with videos related to

Sort By:
Pageof 21
European Journal of Human Genetics : EJHG|February 20, 2009
A large-scale mutation search reveals genetic heterogeneity in 3M syndromeCéline Huber, Anee-Lise Delezoide, Fabien Guimiot, et al.
Prenatal Diagnosis|November 3, 2017
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencingKaren L Stals, Matthew Wakeling, Júlia Baptista, et al.
European Journal of Human Genetics : EJHG|January 13, 2021
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotypeMeena Balasubramanian, Alexander J M Dingemans, Shadi Albaba, et al.
Brain : a Journal of Neurology|February 22, 2024
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformationsLucia Laugwitz, Fubo Cheng, Stephan C Collins, et al.
American Journal of Human Genetics|February 29, 2020
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental DisordersSónia Barbosa, Stephanie Greville-Heygate, Maxime Bonnet, et al.
Plos Pathogens|April 4, 2023
Back-to-Africa introductions of Mycobacterium tuberculosis as the main cause of tuberculosis in Dar es Salaam, TanzaniaMichaela Zwyer, Liliana K Rutaihwa, Etthel Windels, et al.
F1000Research|April 9, 2021
Local adaptation in populations of <i>Mycobacterium tuberculosis</i> endemic to the Indian Ocean RimFabrizio Menardo, Liliana K Rutaihwa, Michaela Zwyer, et al.
Brain : a Journal of Neurology|August 20, 2021
Biallelic PI4KA variants cause neurological, intestinal and immunological diseaseClaire G Salter, Yiying Cai, Bernice Lo, et al.
Science Advances|May 1, 2023
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafishVictoria Patterson, Farid Ullah, Laura Bryant, et al.
Lancet (London, England)|September 16, 2023
Scientific advances and the end of tuberculosis: a report from the Lancet Commission on TuberculosisMichael Reid, Yvan Jean Patrick Agbassi, Nimalan Arinaminpathy, et al.
Pageof 21