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Rebecca Buchert

Showing results (11-20 of 50) with videos related to

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Orphanet Journal of Rare Diseases|September 30, 2016
SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing lossRebecca Buchert, Addie I Nesbitt, Hasan Tawamie, et al.
Molecular Genetics & Genomic Medicine|February 10, 2023
Genome sequencing identifies complex structural MLH1 variant in unsolved Lynch syndromeDennis Witt, Ulrike Faust, Gertrud Strobl-Wildemann, et al.
European Journal of Medical Genetics|May 4, 2020
Pontocerebellar hypoplasia type 11: Does the genetic defect determine timing of cerebellar pathology?Lucia Laugwitz, Rebecca Buchert, Samuel Groeschel, et al.
Human Mutation|December 16, 2014
Inhibition of RAS activation due to a homozygous ezrin variant in patients with profound intellectual disabilityLars Björn Riecken, Hasan Tawamie, Carsten Dornblut, et al.
American Journal of Human Genetics|March 5, 2017
Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and MicrocephalyHasan Tawamie, Igor Martianov, Natalie Wohlfahrt, et al.
American Journal of Human Genetics|December 3, 2014
A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiencyRebecca Buchert, Hasan Tawamie, Christopher Smith, et al.
American Journal of Human Genetics|May 31, 2011
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short statureRami Abou Jamra, Orianne Philippe, Annick Raas-Rothschild, et al.
Clinical Genetics|June 24, 2021
Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancyChristina K Rapp, Ine Van Dijck, Lucia Laugwitz, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|August 22, 2018
Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variantMayada Helal, Neda Mazaheri, Bita Shalbafan, et al.
European Journal of Human Genetics : EJHG|March 28, 2020
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discoveryHolger Hengel, Rebecca Buchert, Marc Sturm, et al.
Pageof 5

Showing results (11-20 of 50) with videos related to

Sort By:
Pageof 5
Orphanet Journal of Rare Diseases|September 30, 2016
SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing lossRebecca Buchert, Addie I Nesbitt, Hasan Tawamie, et al.
Molecular Genetics & Genomic Medicine|February 10, 2023
Genome sequencing identifies complex structural MLH1 variant in unsolved Lynch syndromeDennis Witt, Ulrike Faust, Gertrud Strobl-Wildemann, et al.
European Journal of Medical Genetics|May 4, 2020
Pontocerebellar hypoplasia type 11: Does the genetic defect determine timing of cerebellar pathology?Lucia Laugwitz, Rebecca Buchert, Samuel Groeschel, et al.
Human Mutation|December 16, 2014
Inhibition of RAS activation due to a homozygous ezrin variant in patients with profound intellectual disabilityLars Björn Riecken, Hasan Tawamie, Carsten Dornblut, et al.
American Journal of Human Genetics|March 5, 2017
Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and MicrocephalyHasan Tawamie, Igor Martianov, Natalie Wohlfahrt, et al.
American Journal of Human Genetics|December 3, 2014
A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiencyRebecca Buchert, Hasan Tawamie, Christopher Smith, et al.
American Journal of Human Genetics|May 31, 2011
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short statureRami Abou Jamra, Orianne Philippe, Annick Raas-Rothschild, et al.
Clinical Genetics|June 24, 2021
Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancyChristina K Rapp, Ine Van Dijck, Lucia Laugwitz, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|August 22, 2018
Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variantMayada Helal, Neda Mazaheri, Bita Shalbafan, et al.
European Journal of Human Genetics : EJHG|March 28, 2020
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discoveryHolger Hengel, Rebecca Buchert, Marc Sturm, et al.
Pageof 5