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Marc Sturm

Showing results (41-50 of 106) with videos related to

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Human Genetics|May 20, 2020
De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndromeRoser Ufartes, Hanna Berger, Katharina Till, et al.
European Journal of Human Genetics : EJHG|May 8, 2014
Genome-wide UPD screening in patients with intellectual disabilityChristopher Schroeder, Arif Bülent Ekici, Ute Moog, et al.
Bone|June 24, 2018
Novel WNT1 mutations in children with osteogenesis imperfecta: Clinical and functional characterizationYanqin Lu, Xiuzhi Ren, Yanzhou Wang, et al.
Journal of Leukocyte Biology|December 18, 2018
Loss of NFAT2 expression results in the acceleration of clonal evolution in chronic lymphocytic leukemiaDavid J Müller, Stefan Wirths, Alexander R Fuchs, et al.
Multiple Sclerosis Journal - Experimental, Translational and Clinical|July 29, 2024
Uncovering genetic mimics in multiple sclerosis: A single-center clinical exome sequencing studyJulia M Mandler, Johanna Härtl, Isabell Cordts, et al.
Journal of Medical Genetics|August 24, 2019
<i>De novo</i> variants in <i>SLC12A6</i> cause sporadic early-onset progressive sensorimotor neuropathyJoohyun Park, Bianca R Flores, Katalin Scherer, et al.
NPJ Genomic Medicine|March 15, 2024
Genomes in clinical careOlaf Riess, Marc Sturm, Benita Menden, et al.
Brain : a Journal of Neurology|December 12, 2024
Elevated cholesterol is a common phenotype for dominant and recessive ATAD3-associated disordersAnn-Sophie Kiesel, Lucia Laugwitz, Rebecca Buchert, et al.
Breast Cancer Research : BCR|August 9, 2018
Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredityJudith Penkert, Gunnar Schmidt, Winfried Hofmann, et al.
Human Genetics|May 26, 2018
De novo FBXO11 mutations are associated with intellectual disability and behavioural anomaliesDaniel Fritzen, Alma Kuechler, Mona Grimmel, et al.
Pageof 11

Showing results (41-50 of 106) with videos related to

Sort By:
Pageof 11
Human Genetics|May 20, 2020
De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndromeRoser Ufartes, Hanna Berger, Katharina Till, et al.
European Journal of Human Genetics : EJHG|May 8, 2014
Genome-wide UPD screening in patients with intellectual disabilityChristopher Schroeder, Arif Bülent Ekici, Ute Moog, et al.
Bone|June 24, 2018
Novel WNT1 mutations in children with osteogenesis imperfecta: Clinical and functional characterizationYanqin Lu, Xiuzhi Ren, Yanzhou Wang, et al.
Journal of Leukocyte Biology|December 18, 2018
Loss of NFAT2 expression results in the acceleration of clonal evolution in chronic lymphocytic leukemiaDavid J Müller, Stefan Wirths, Alexander R Fuchs, et al.
Multiple Sclerosis Journal - Experimental, Translational and Clinical|July 29, 2024
Uncovering genetic mimics in multiple sclerosis: A single-center clinical exome sequencing studyJulia M Mandler, Johanna Härtl, Isabell Cordts, et al.
Journal of Medical Genetics|August 24, 2019
<i>De novo</i> variants in <i>SLC12A6</i> cause sporadic early-onset progressive sensorimotor neuropathyJoohyun Park, Bianca R Flores, Katalin Scherer, et al.
NPJ Genomic Medicine|March 15, 2024
Genomes in clinical careOlaf Riess, Marc Sturm, Benita Menden, et al.
Brain : a Journal of Neurology|December 12, 2024
Elevated cholesterol is a common phenotype for dominant and recessive ATAD3-associated disordersAnn-Sophie Kiesel, Lucia Laugwitz, Rebecca Buchert, et al.
Breast Cancer Research : BCR|August 9, 2018
Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredityJudith Penkert, Gunnar Schmidt, Winfried Hofmann, et al.
Human Genetics|May 26, 2018
De novo FBXO11 mutations are associated with intellectual disability and behavioural anomaliesDaniel Fritzen, Alma Kuechler, Mona Grimmel, et al.
Pageof 11