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Maria M Alves

Showing results (31-40 of 43) with videos related to

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Developmental Biology|May 28, 2013
Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a modelMaria M Alves, Yunia Sribudiani, Rutger W W Brouwer, et al.
Ebiomedicine|April 4, 2025
Multi-ancestry genome-wide association meta-analysis identifies novel associations and informs genetic risk prediction for Hirschsprung diseaseYuanxin Zhong, Man-Ting So, Zuyi Ma, et al.
American Journal of Human Genetics|June 13, 2017
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis SyndromeDanny Halim, Erwin Brosens, Françoise Muller, et al.
Iscience|May 1, 2026
Impact of enteric neuronal loss on intestinal cell compositionNaomi J M Kakiailatu, Wei Zhang, Laura E Kuil, et al.
Gastroenterology|March 31, 2018
Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung DiseaseYunia Sribudiani, Rajendra K Chauhan, Maria M Alves, et al.
International Journal of Molecular Sciences|November 27, 2021
The Somatic Mutation Paradigm in Congenital Malformations: Hirschsprung Disease as a ModelKatherine C MacKenzie, Rhiana Garritsen, Rajendra K Chauhan, et al.
Human Molecular Genetics|December 10, 2015
ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis SyndromeDanny Halim, Robert M W Hofstra, Luca Signorile, et al.
Human Mutation|September 17, 2020
Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBPKatherine C MacKenzie, Bianca M de Graaf, Andreas Syrimis, et al.
Plos Genetics|August 6, 2021
Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system developmentLaura E Kuil, Katherine C MacKenzie, Clara S Tang, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 16, 2017
Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and miceDanny Halim, Michael P Wilson, Daniel Oliver, et al.
Pageof 5

Showing results (31-40 of 43) with videos related to

Sort By:
Pageof 5
Developmental Biology|May 28, 2013
Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a modelMaria M Alves, Yunia Sribudiani, Rutger W W Brouwer, et al.
Ebiomedicine|April 4, 2025
Multi-ancestry genome-wide association meta-analysis identifies novel associations and informs genetic risk prediction for Hirschsprung diseaseYuanxin Zhong, Man-Ting So, Zuyi Ma, et al.
American Journal of Human Genetics|June 13, 2017
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis SyndromeDanny Halim, Erwin Brosens, Françoise Muller, et al.
Iscience|May 1, 2026
Impact of enteric neuronal loss on intestinal cell compositionNaomi J M Kakiailatu, Wei Zhang, Laura E Kuil, et al.
Gastroenterology|March 31, 2018
Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung DiseaseYunia Sribudiani, Rajendra K Chauhan, Maria M Alves, et al.
International Journal of Molecular Sciences|November 27, 2021
The Somatic Mutation Paradigm in Congenital Malformations: Hirschsprung Disease as a ModelKatherine C MacKenzie, Rhiana Garritsen, Rajendra K Chauhan, et al.
Human Molecular Genetics|December 10, 2015
ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis SyndromeDanny Halim, Robert M W Hofstra, Luca Signorile, et al.
Human Mutation|September 17, 2020
Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBPKatherine C MacKenzie, Bianca M de Graaf, Andreas Syrimis, et al.
Plos Genetics|August 6, 2021
Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system developmentLaura E Kuil, Katherine C MacKenzie, Clara S Tang, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 16, 2017
Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and miceDanny Halim, Michael P Wilson, Daniel Oliver, et al.
Pageof 5