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Showing results (441-450 of 476) with videos related to

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Brain : a Journal of Neurology|August 23, 2015
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanismEmanuele Panza, Juan M Escamilla-Honrubia, Clara Marco-Marín, et al.
American Journal of Human Genetics|May 5, 2009
Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox geneStephen R F Twigg, Sarah L Versnel, Gudrun Nürnberg, et al.
American Journal of Human Genetics|May 11, 2005
Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systemsAlice S Brooks, Aida M Bertoli-Avella, Grzegorz M Burzynski, et al.
Nature Genetics|August 15, 2006
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genomeAndrew J Sharp, Sierra Hansen, Rebecca R Selzer, et al.
Human Molecular Genetics|January 6, 2017
Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disordersJochem M G Evers, Roman A Laskowski, Marta Bertolli, et al.
Circulation|October 4, 2017
Identification of MicroRNA-124 as a Major Regulator of Enhanced Endothelial Cell Glycolysis in Pulmonary Arterial Hypertension via PTBP1 (Polypyrimidine Tract Binding Protein) and Pyruvate Kinase M2Paola Caruso, Benjamin J Dunmore, Kenny Schlosser, et al.
Nature Genetics|August 10, 2004
Mutations in a new member of the chromodomain gene family cause CHARGE syndromeLisenka E L M Vissers, Conny M A van Ravenswaaij, Ronald Admiraal, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 13, 2019
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristicsAllan Bayat, Alexej Knaus, Annika Wollenberg Juul, et al.
Journal of Medical Genetics|November 14, 1997
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative studyA K Ryan, J A Goodship, D I Wilson, et al.
American Journal of Human Genetics|July 26, 2016
BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates TranscriptionCristina Dias, Sara B Estruch, Sarah A Graham, et al.
Pageof 48

Showing results (441-450 of 476) with videos related to

Sort By:
Pageof 48
Brain : a Journal of Neurology|August 23, 2015
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanismEmanuele Panza, Juan M Escamilla-Honrubia, Clara Marco-Marín, et al.
American Journal of Human Genetics|May 5, 2009
Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox geneStephen R F Twigg, Sarah L Versnel, Gudrun Nürnberg, et al.
American Journal of Human Genetics|May 11, 2005
Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systemsAlice S Brooks, Aida M Bertoli-Avella, Grzegorz M Burzynski, et al.
Nature Genetics|August 15, 2006
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genomeAndrew J Sharp, Sierra Hansen, Rebecca R Selzer, et al.
Human Molecular Genetics|January 6, 2017
Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disordersJochem M G Evers, Roman A Laskowski, Marta Bertolli, et al.
Circulation|October 4, 2017
Identification of MicroRNA-124 as a Major Regulator of Enhanced Endothelial Cell Glycolysis in Pulmonary Arterial Hypertension via PTBP1 (Polypyrimidine Tract Binding Protein) and Pyruvate Kinase M2Paola Caruso, Benjamin J Dunmore, Kenny Schlosser, et al.
Nature Genetics|August 10, 2004
Mutations in a new member of the chromodomain gene family cause CHARGE syndromeLisenka E L M Vissers, Conny M A van Ravenswaaij, Ronald Admiraal, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 13, 2019
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristicsAllan Bayat, Alexej Knaus, Annika Wollenberg Juul, et al.
Journal of Medical Genetics|November 14, 1997
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative studyA K Ryan, J A Goodship, D I Wilson, et al.
American Journal of Human Genetics|July 26, 2016
BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates TranscriptionCristina Dias, Sara B Estruch, Sarah A Graham, et al.
Pageof 48