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Rebecca Buchert

Showing results (1-10 of 50) with videos related to

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World Journal of Clinical Cases|February 2, 2019
Two cases of variant late infantile ceroid lipofuscinosis in JordanOmar Nafi, Bashar Ramadan, Olaf Riess, et al.
Clinical Genetics|March 20, 2019
Bain type of X-linked syndromic mental retardation in boysStefani Harmsen, Rebecca Buchert, Ertan Mayatepek, et al.
Molecular Syndromology|December 7, 2023
Sequence Variants in the <i>WNT10B</i> Underlying Non-Syndromic Split-Hand/Foot MalformationMuhammad Bilal, Tobias B Haack, Rebecca Buchert, et al.
Molecular Syndromology|June 16, 2023
Sequence Variants in <i>MEGF8</i> and <i>GJA1</i> Underlying SyndactylyMuhammad Bilal, Tobias B Haack, Rebecca Buchert, et al.
Acta Neuropathologica Communications|December 29, 2018
Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease - a new type of neuronal ceroid lipofuscinosis (CLN15)?Stefanie Beck-Wödl, Klaus Harzer, Marc Sturm, et al.
European Journal of Medical Genetics|October 2, 2013
Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlationRebecca Buchert, Steffen Uebe, Farah Radwan, et al.
Neuropediatrics|April 1, 2021
Pitfalls in Genetic Diagnostics: Why Phenotyping is EssentialJanina Gburek-Augustat, Jan-Christoph Schoene-Bake, Eva Bültmann, et al.
Journal of Clinical Medicine|October 14, 2022
Genome Sequencing and Transcriptome Profiling in Twins Discordant for Mayer-Rokitansky-Küster-Hauser SyndromeRebecca Buchert, Elisabeth Schenk, Thomas Hentrich, et al.
Plos Genetics|May 3, 2014
Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathyYoshiko Murakami, Hasan Tawamie, Yusuke Maeda, et al.
European Journal of Human Genetics : EJHG|January 4, 2020
Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian AuthorityAnja K Mayer, Ghassan Balousha, Rajech Sharkia, et al.
Pageof 5

Showing results (1-10 of 50) with videos related to

Sort By:
Pageof 5
World Journal of Clinical Cases|February 2, 2019
Two cases of variant late infantile ceroid lipofuscinosis in JordanOmar Nafi, Bashar Ramadan, Olaf Riess, et al.
Clinical Genetics|March 20, 2019
Bain type of X-linked syndromic mental retardation in boysStefani Harmsen, Rebecca Buchert, Ertan Mayatepek, et al.
Molecular Syndromology|December 7, 2023
Sequence Variants in the <i>WNT10B</i> Underlying Non-Syndromic Split-Hand/Foot MalformationMuhammad Bilal, Tobias B Haack, Rebecca Buchert, et al.
Molecular Syndromology|June 16, 2023
Sequence Variants in <i>MEGF8</i> and <i>GJA1</i> Underlying SyndactylyMuhammad Bilal, Tobias B Haack, Rebecca Buchert, et al.
Acta Neuropathologica Communications|December 29, 2018
Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease - a new type of neuronal ceroid lipofuscinosis (CLN15)?Stefanie Beck-Wödl, Klaus Harzer, Marc Sturm, et al.
European Journal of Medical Genetics|October 2, 2013
Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlationRebecca Buchert, Steffen Uebe, Farah Radwan, et al.
Neuropediatrics|April 1, 2021
Pitfalls in Genetic Diagnostics: Why Phenotyping is EssentialJanina Gburek-Augustat, Jan-Christoph Schoene-Bake, Eva Bültmann, et al.
Journal of Clinical Medicine|October 14, 2022
Genome Sequencing and Transcriptome Profiling in Twins Discordant for Mayer-Rokitansky-Küster-Hauser SyndromeRebecca Buchert, Elisabeth Schenk, Thomas Hentrich, et al.
Plos Genetics|May 3, 2014
Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathyYoshiko Murakami, Hasan Tawamie, Yusuke Maeda, et al.
European Journal of Human Genetics : EJHG|January 4, 2020
Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian AuthorityAnja K Mayer, Ghassan Balousha, Rajech Sharkia, et al.
Pageof 5