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Thomas Meitinger

Showing results (151-160 of 508) with videos related to

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Plos One|August 23, 2017
Genomic correlates of glatiramer acetate adverse cardiovascular effects lead to a novel locus mediating coronary riskIngrid Brænne, Lingyao Zeng, Christina Willenborg, et al.
Molecular Metabolism|April 2, 2019
Point mutations in the PDX1 transactivation domain impair human β-cell development and functionXianming Wang, Michael Sterr, Ansarullah, et al.
The Journal of Clinical Endocrinology and Metabolism|July 15, 2011
Variants in STAT5B associate with serum TC and LDL-C levelsJan-Wilhelm Kornfeld, Aaron Isaacs, Veronique Vitart, et al.
Nature Genetics|March 11, 2008
SLC2A9 influences uric acid concentrations with pronounced sex-specific effectsAngela Döring, Christian Gieger, Divya Mehta, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 25, 2007
A novel LRRK2 mutation in an Austrian cohort of patients with Parkinson's diseaseDietrich Haubenberger, Silvia Bonelli, Christoph Hotzy, et al.
Human Molecular Genetics|February 18, 2022
Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disordersTheresa Brunet, Riccardo Berutti, Veronika Dill, et al.
The Journal of Clinical Endocrinology and Metabolism|February 24, 2006
Prevalence, spectrum, and functional characterization of melanocortin-4 receptor gene mutations in a representative population-based sample and obese adults from GermanyAnke Hinney, Thomas Bettecken, Patrick Tarnow, et al.
Clinical Genetics|October 3, 2022
The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndromeBernt Popp, Melanie Brugger, Sibylle Poschmann, et al.
Deutsches Arzteblatt International|May 7, 2019
Exome Sequencing in ChildrenElisa A Mahler, Jessika Johannsen, Konstantinos Tsiakas, et al.
Journal of Medical Genetics|September 17, 2017
SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large familyBenjamin Roeben, Rebecca Schüle, Susanne Ruf, et al.
Pageof 51

Showing results (151-160 of 508) with videos related to

Sort By:
Pageof 51
Plos One|August 23, 2017
Genomic correlates of glatiramer acetate adverse cardiovascular effects lead to a novel locus mediating coronary riskIngrid Brænne, Lingyao Zeng, Christina Willenborg, et al.
Molecular Metabolism|April 2, 2019
Point mutations in the PDX1 transactivation domain impair human β-cell development and functionXianming Wang, Michael Sterr, Ansarullah, et al.
The Journal of Clinical Endocrinology and Metabolism|July 15, 2011
Variants in STAT5B associate with serum TC and LDL-C levelsJan-Wilhelm Kornfeld, Aaron Isaacs, Veronique Vitart, et al.
Nature Genetics|March 11, 2008
SLC2A9 influences uric acid concentrations with pronounced sex-specific effectsAngela Döring, Christian Gieger, Divya Mehta, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 25, 2007
A novel LRRK2 mutation in an Austrian cohort of patients with Parkinson's diseaseDietrich Haubenberger, Silvia Bonelli, Christoph Hotzy, et al.
Human Molecular Genetics|February 18, 2022
Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disordersTheresa Brunet, Riccardo Berutti, Veronika Dill, et al.
The Journal of Clinical Endocrinology and Metabolism|February 24, 2006
Prevalence, spectrum, and functional characterization of melanocortin-4 receptor gene mutations in a representative population-based sample and obese adults from GermanyAnke Hinney, Thomas Bettecken, Patrick Tarnow, et al.
Clinical Genetics|October 3, 2022
The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndromeBernt Popp, Melanie Brugger, Sibylle Poschmann, et al.
Deutsches Arzteblatt International|May 7, 2019
Exome Sequencing in ChildrenElisa A Mahler, Jessika Johannsen, Konstantinos Tsiakas, et al.
Journal of Medical Genetics|September 17, 2017
SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large familyBenjamin Roeben, Rebecca Schüle, Susanne Ruf, et al.
Pageof 51