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Michael J Gambello

Showing results (11-20 of 69) with videos related to

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American Journal of Medical Genetics. Part A|April 14, 2021
Hypotrichosis-lymphedema-telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrumRichard Coulie, Dmitriy M Niyazov, Michael J Gambello, et al.
American Journal of Medical Genetics. Part A|September 21, 2007
Mortality in achondroplasia study: a 42-year follow-upJulia Wynn, Terri M King, Michael J Gambello, et al.
Journal of Biomechanics|April 26, 2016
Machine learning based analytics of micro-MRI trabecular bone microarchitecture and texture in type 1 Gaucher diseaseGulshan B Sharma, Douglas D Robertson, Dawn A Laney, et al.
Muscle & Nerve|July 1, 2006
Exercise intolerance associated with a novel 8300T > C mutation in mitochondrial transfer RNAlysMichael J Gambello, Ren-Kui Bai, Tian-Jian Chen, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|March 12, 2003
Multiple dose-dependent effects of Lis1 on cerebral cortical developmentMichael J Gambello, Dawn L Darling, Jessica Yingling, et al.
Journal of Genetic Counseling|June 10, 2026
Impacts of genetic counseling on hypophosphatasia heterozygotes identified through carrier screeningBraydon X Morris, Karen A Grinzaid, Ami Rosen, et al.
The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians|July 17, 2009
Fetal trisomy 21 and the risk of preeclampsiaJennifer Defant, Michael J Gambello, Manju Monga, et al.
Human Molecular Genetics|November 11, 2010
Tsc2 gene inactivation causes a more severe epilepsy phenotype than Tsc1 inactivation in a mouse model of tuberous sclerosis complexLing-Hui Zeng, Nicholas R Rensing, Bo Zhang, et al.
The Journal of Cell Biology|June 3, 2004
Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migrationTeruyuki Tanaka, Finley F Serneo, Christine Higgins, et al.
Human Molecular Genetics|June 27, 2020
Ornithine decarboxylase, the rate-limiting enzyme of polyamine synthesis, modifies brain pathology in a mouse model of tuberous sclerosis complexDavid Kapfhamer, James McKenna, Caroline J Yoon, et al.
Pageof 7

Showing results (11-20 of 69) with videos related to

Sort By:
Pageof 7
American Journal of Medical Genetics. Part A|April 14, 2021
Hypotrichosis-lymphedema-telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrumRichard Coulie, Dmitriy M Niyazov, Michael J Gambello, et al.
American Journal of Medical Genetics. Part A|September 21, 2007
Mortality in achondroplasia study: a 42-year follow-upJulia Wynn, Terri M King, Michael J Gambello, et al.
Journal of Biomechanics|April 26, 2016
Machine learning based analytics of micro-MRI trabecular bone microarchitecture and texture in type 1 Gaucher diseaseGulshan B Sharma, Douglas D Robertson, Dawn A Laney, et al.
Muscle & Nerve|July 1, 2006
Exercise intolerance associated with a novel 8300T > C mutation in mitochondrial transfer RNAlysMichael J Gambello, Ren-Kui Bai, Tian-Jian Chen, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|March 12, 2003
Multiple dose-dependent effects of Lis1 on cerebral cortical developmentMichael J Gambello, Dawn L Darling, Jessica Yingling, et al.
Journal of Genetic Counseling|June 10, 2026
Impacts of genetic counseling on hypophosphatasia heterozygotes identified through carrier screeningBraydon X Morris, Karen A Grinzaid, Ami Rosen, et al.
The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians|July 17, 2009
Fetal trisomy 21 and the risk of preeclampsiaJennifer Defant, Michael J Gambello, Manju Monga, et al.
Human Molecular Genetics|November 11, 2010
Tsc2 gene inactivation causes a more severe epilepsy phenotype than Tsc1 inactivation in a mouse model of tuberous sclerosis complexLing-Hui Zeng, Nicholas R Rensing, Bo Zhang, et al.
The Journal of Cell Biology|June 3, 2004
Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migrationTeruyuki Tanaka, Finley F Serneo, Christine Higgins, et al.
Human Molecular Genetics|June 27, 2020
Ornithine decarboxylase, the rate-limiting enzyme of polyamine synthesis, modifies brain pathology in a mouse model of tuberous sclerosis complexDavid Kapfhamer, James McKenna, Caroline J Yoon, et al.
Pageof 7