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Andrew E Fry

Showing results (41-50 of 59) with videos related to

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Cellular and Molecular Life Sciences : CMLS|November 3, 2023
Clinical and functional consequences of GRIA variants in patients with neurological diseasesWenshu XiangWei, Riley E Perszyk, Nana Liu, et al.
Neurology|October 3, 2022
The Phenotypic Continuum of <i>ATP1A3</i>-Related DisordersAikaterini Vezyroglou, Rhoda Akilapa, Katy Barwick, et al.
Human Molecular Genetics|May 1, 2009
Positive selection of a CD36 nonsense variant in sub-Saharan Africa, but no association with severe malaria phenotypesAndrew E Fry, Anita Ghansa, Kerrin S Small, et al.
American Journal of Medical Genetics. Part A|September 13, 2021
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobinCharlotte von der Lippe, Kristian Tveten, Trine E Prescott, et al.
Annals of Neurology|June 10, 2020
SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain MalformationTariq Zaman, Katherine L Helbig, Jérôme Clatot, et al.
Nature Genetics|April 8, 2014
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndromeGhayda Mirzaa, David A Parry, Andrew E Fry, 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.
Nature Genetics|February 28, 2012
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndromeJean-Baptiste Rivière, Bregje W M van Bon, Alexander Hoischen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 6, 2021
Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2Víctor Faundes, Stephanie Goh, Rhoda Akilapa, et al.
Pageof 6

Showing results (41-50 of 59) with videos related to

Sort By:
Pageof 6
Cellular and Molecular Life Sciences : CMLS|November 3, 2023
Clinical and functional consequences of GRIA variants in patients with neurological diseasesWenshu XiangWei, Riley E Perszyk, Nana Liu, et al.
Neurology|October 3, 2022
The Phenotypic Continuum of <i>ATP1A3</i>-Related DisordersAikaterini Vezyroglou, Rhoda Akilapa, Katy Barwick, et al.
Human Molecular Genetics|May 1, 2009
Positive selection of a CD36 nonsense variant in sub-Saharan Africa, but no association with severe malaria phenotypesAndrew E Fry, Anita Ghansa, Kerrin S Small, et al.
American Journal of Medical Genetics. Part A|September 13, 2021
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobinCharlotte von der Lippe, Kristian Tveten, Trine E Prescott, et al.
Annals of Neurology|June 10, 2020
SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain MalformationTariq Zaman, Katherine L Helbig, Jérôme Clatot, et al.
Nature Genetics|April 8, 2014
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndromeGhayda Mirzaa, David A Parry, Andrew E Fry, 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.
Nature Genetics|February 28, 2012
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndromeJean-Baptiste Rivière, Bregje W M van Bon, Alexander Hoischen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 6, 2021
Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2Víctor Faundes, Stephanie Goh, Rhoda Akilapa, et al.
Pageof 6