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Matias Simons

Showing results (51-60 of 66) with videos related to

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Journal of the American Society of Nephrology : JASN|March 9, 2017
Targeting mTOR Signaling Can Prevent the Progression of FSGSStefan Zschiedrich, Tillmann Bork, Wei Liang, et al.
Frontiers in Endocrinology|March 17, 2023
Four missense genetic variants in <i>CUBN</i> are associated with higher levels of eGFR in non-diabetes but not in diabetes mellitus or its subtypes: A genetic association study in EuropeansNicoline Uglebjerg, Fariba Ahmadizar, Dina M Aly, et al.
Science Advances|November 28, 2025
Arp2/3-dependent regulation of ciliogenesis governs adaptive distal tubular epithelial cell states in kidney diseaseManuel Rogg, Lisa Weißer, Jasmin I Maier, et al.
Plos Genetics|May 17, 2018
A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and fliesSara Gonçalves, Julie Patat, Maria Clara Guida, et al.
Plos Genetics|October 27, 2018
Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and fliesSara Gonçalves, Julie Patat, Maria Clara Guida, et al.
The Journal of Experimental Medicine|November 12, 2017
Mutations in the X-linked <i>ATP6AP2</i> cause a glycosylation disorder with autophagic defectsMaria A Rujano, Magda Cannata Serio, Ganna Panasyuk, et al.
Diabetologia|December 15, 2018
A novel rare CUBN variant and three additional genes identified in Europeans with and without diabetes: results from an exome-wide association study of albuminuriaTarunveer S Ahluwalia, Christina-Alexandra Schulz, Johannes Waage, et al.
Hepatology (Baltimore, Md.)|March 8, 2020
Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver DiseaseMagda Cannata Serio, Laurie A Graham, Angel Ashikov, et al.
Pediatric Neurology|September 21, 2023
De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in ChildrenNatalie Ahmad, Walid Fazeli, Sophia Schließke, et al.
American Journal of Human Genetics|April 26, 2016
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie SyndromeSylvie Gerber, Kamil J Alzayady, Lydie Burglen, et al.
Pageof 7

Showing results (51-60 of 66) with videos related to

Sort By:
Pageof 7
Journal of the American Society of Nephrology : JASN|March 9, 2017
Targeting mTOR Signaling Can Prevent the Progression of FSGSStefan Zschiedrich, Tillmann Bork, Wei Liang, et al.
Frontiers in Endocrinology|March 17, 2023
Four missense genetic variants in <i>CUBN</i> are associated with higher levels of eGFR in non-diabetes but not in diabetes mellitus or its subtypes: A genetic association study in EuropeansNicoline Uglebjerg, Fariba Ahmadizar, Dina M Aly, et al.
Science Advances|November 28, 2025
Arp2/3-dependent regulation of ciliogenesis governs adaptive distal tubular epithelial cell states in kidney diseaseManuel Rogg, Lisa Weißer, Jasmin I Maier, et al.
Plos Genetics|May 17, 2018
A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and fliesSara Gonçalves, Julie Patat, Maria Clara Guida, et al.
Plos Genetics|October 27, 2018
Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and fliesSara Gonçalves, Julie Patat, Maria Clara Guida, et al.
The Journal of Experimental Medicine|November 12, 2017
Mutations in the X-linked <i>ATP6AP2</i> cause a glycosylation disorder with autophagic defectsMaria A Rujano, Magda Cannata Serio, Ganna Panasyuk, et al.
Diabetologia|December 15, 2018
A novel rare CUBN variant and three additional genes identified in Europeans with and without diabetes: results from an exome-wide association study of albuminuriaTarunveer S Ahluwalia, Christina-Alexandra Schulz, Johannes Waage, et al.
Hepatology (Baltimore, Md.)|March 8, 2020
Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver DiseaseMagda Cannata Serio, Laurie A Graham, Angel Ashikov, et al.
Pediatric Neurology|September 21, 2023
De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in ChildrenNatalie Ahmad, Walid Fazeli, Sophia Schließke, et al.
American Journal of Human Genetics|April 26, 2016
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie SyndromeSylvie Gerber, Kamil J Alzayady, Lydie Burglen, et al.
Pageof 7