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Horia Stanescu

Showing results (21-30 of 30) with videos related to

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Brain : a Journal of Neurology|April 4, 2017
Multi-infarct dementia of Swedish type is caused by a 3'UTR mutation of COL4A1Maija Siitonen, Anne Börjesson-Hanson, Minna Pöyhönen, et al.
Neurology|June 30, 2012
A candidate gene for autoimmune myasthenia gravisGuida Landouré, Melanie A Knight, Horia Stanescu, et al.
Pediatric Nephrology (Berlin, Germany)|November 10, 2022
Shared genetic risk across different presentations of gene test-negative idiopathic nephrotic syndromeMallory L Downie, Sanjana Gupta, Melanie M Y Chan, et al.
The Journal of Experimental Medicine|December 21, 2016
Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1Ariane S I Standing, Dessislava Malinova, Ying Hong, et al.
Journal of the American Society of Nephrology : JASN|April 25, 2009
HNF1B mutations associate with hypomagnesemia and renal magnesium wastingShazia Adalat, Adrian S Woolf, Karen A Johnstone, et al.
Journal of Medical Genetics|January 8, 2015
The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypesAoife M Waters, Rowan Asfahani, Paula Carroll, et al.
Blood|August 17, 2010
Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3pMeral Gunay-Aygun, Yifat Zivony-Elboum, Fatma Gumruk, et al.
Journal of the American Society of Nephrology : JASN|April 5, 2017
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2Oscar Rubio Cabezas, Sarah E Flanagan, Horia Stanescu, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 20, 2020
Pseudouridylation defect due to <i>DKC1</i> and <i>NOP10</i> mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitisEszter Balogh, Jennifer C Chandler, Máté Varga, et al.
Medrxiv : the Preprint Server for Health Sciences|March 18, 2026
Familial medullary thyroid carcinoma secondary to an <i>SLC30A9</i> intragenic deletion and translation reinitiationDonato Iacovazzo, Federica Begalli, Oniz Suleyman, et al.
Pageof 3

Showing results (21-30 of 30) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 30 results.
Brain : a Journal of Neurology|April 4, 2017
Multi-infarct dementia of Swedish type is caused by a 3'UTR mutation of COL4A1Maija Siitonen, Anne Börjesson-Hanson, Minna Pöyhönen, et al.
Neurology|June 30, 2012
A candidate gene for autoimmune myasthenia gravisGuida Landouré, Melanie A Knight, Horia Stanescu, et al.
Pediatric Nephrology (Berlin, Germany)|November 10, 2022
Shared genetic risk across different presentations of gene test-negative idiopathic nephrotic syndromeMallory L Downie, Sanjana Gupta, Melanie M Y Chan, et al.
The Journal of Experimental Medicine|December 21, 2016
Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1Ariane S I Standing, Dessislava Malinova, Ying Hong, et al.
Journal of the American Society of Nephrology : JASN|April 25, 2009
HNF1B mutations associate with hypomagnesemia and renal magnesium wastingShazia Adalat, Adrian S Woolf, Karen A Johnstone, et al.
Journal of Medical Genetics|January 8, 2015
The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypesAoife M Waters, Rowan Asfahani, Paula Carroll, et al.
Blood|August 17, 2010
Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3pMeral Gunay-Aygun, Yifat Zivony-Elboum, Fatma Gumruk, et al.
Journal of the American Society of Nephrology : JASN|April 5, 2017
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2Oscar Rubio Cabezas, Sarah E Flanagan, Horia Stanescu, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 20, 2020
Pseudouridylation defect due to <i>DKC1</i> and <i>NOP10</i> mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitisEszter Balogh, Jennifer C Chandler, Máté Varga, et al.
Medrxiv : the Preprint Server for Health Sciences|March 18, 2026
Familial medullary thyroid carcinoma secondary to an <i>SLC30A9</i> intragenic deletion and translation reinitiationDonato Iacovazzo, Federica Begalli, Oniz Suleyman, et al.
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