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Showing results (31-40 of 45) with videos related to

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American Journal of Human Genetics|March 13, 2024
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic featuresXueyang Pan, Alice M Tao, Shenzhao Lu, et al.
The New England Journal of Medicine|October 4, 2013
PLS3 mutations in X-linked osteoporosis with fracturesFleur S van Dijk, M Carola Zillikens, Dimitra Micha, et al.
European Journal of Human Genetics : EJHG|June 10, 2010
The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genesAimée D C Paulussen, Constance T Schrander-Stumpel, Demis C J Tserpelis, et al.
Human Molecular Genetics|June 8, 2018
Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylationAngel Ashikov, Nurulamin Abu Bakar, Xiao-Yan Wen, et al.
Molecular Psychiatry|April 30, 2020
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndromeJoost Kummeling, Diante E Stremmelaar, Nicholas Raun, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 29, 2022
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndromeJet van der Spek, Joery den Hoed, Lot Snijders Blok, et al.
American Journal of Human Genetics|May 21, 2024
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivityTassja Kalm, Claudia Schob, Hanna Völler, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 14, 2022
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorderSilvestre Cuinat, Mathilde Nizon, Bertrand Isidor, et al.
American Journal of Medical Genetics. Part A|January 22, 2015
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotypePaulien A Terhal, Rutger Jan A J Nievelstein, Eva J J Verver, et al.
Orphanet Journal of Rare Diseases|April 30, 2013
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAPSarah M Nikkel, Andrew Dauber, Sonja de Munnik, et al.
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Showing results (31-40 of 45) with videos related to

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American Journal of Human Genetics|March 13, 2024
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic featuresXueyang Pan, Alice M Tao, Shenzhao Lu, et al.
The New England Journal of Medicine|October 4, 2013
PLS3 mutations in X-linked osteoporosis with fracturesFleur S van Dijk, M Carola Zillikens, Dimitra Micha, et al.
European Journal of Human Genetics : EJHG|June 10, 2010
The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genesAimée D C Paulussen, Constance T Schrander-Stumpel, Demis C J Tserpelis, et al.
Human Molecular Genetics|June 8, 2018
Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylationAngel Ashikov, Nurulamin Abu Bakar, Xiao-Yan Wen, et al.
Molecular Psychiatry|April 30, 2020
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndromeJoost Kummeling, Diante E Stremmelaar, Nicholas Raun, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 29, 2022
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndromeJet van der Spek, Joery den Hoed, Lot Snijders Blok, et al.
American Journal of Human Genetics|May 21, 2024
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivityTassja Kalm, Claudia Schob, Hanna Völler, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 14, 2022
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorderSilvestre Cuinat, Mathilde Nizon, Bertrand Isidor, et al.
American Journal of Medical Genetics. Part A|January 22, 2015
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotypePaulien A Terhal, Rutger Jan A J Nievelstein, Eva J J Verver, et al.
Orphanet Journal of Rare Diseases|April 30, 2013
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAPSarah M Nikkel, Andrew Dauber, Sonja de Munnik, et al.
Pageof 5