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Showing results (731-740 of 835) with videos related to

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Brain : a Journal of Neurology|August 21, 2016
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasiaJijun Wan, Janos Steffen, Michael Yourshaw, et al.
Journal of Medical Genetics|March 11, 2017
Homozygous mutation in <i>NUP107</i> leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndromeRasim Ozgur Rosti, Bethany N Sotak, Stephanie L Bielas, et al.
Journal of Medical Genetics|June 10, 2006
Segmental uniparental isodisomy on 5q32-qter in a patient with childhood-onset schizophreniaJ L Seal, M C Gornick, N Gogtay, et al.
American Journal of Human Genetics|April 14, 2009
Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndromeAmy E Merrill, Barry Merriman, Claire Farrington-Rock, et al.
Aging Cell|November 20, 2013
Acarbose, 17-α-estradiol, and nordihydroguaiaretic acid extend mouse lifespan preferentially in malesDavid E Harrison, Randy Strong, David B Allison, et al.
Cardiology and Cardiovascular Medicine|March 30, 2026
Novel Missense Variants in <i>TRIM37</i> Associated with Mulibrey Nanism and Complex Congenital Heart DiseaseGloria K E Zodanu, Angela C Zeigler, Jordan Mudery, et al.
American Journal of Medical Genetics. Part A|January 13, 2021
Expansion of NEUROD2 phenotypes to include developmental delay without seizuresEmily K Mis, Annalisa G Sega, Rebecca H Signer, et al.
Elife|May 1, 2016
The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan additionJeremy L Praissman, Tobias Willer, M Osman Sheikh, et al.
International Journal of Molecular Sciences|May 25, 2024
High-Throughput Genomics Identify Novel <i>FBN1/2</i> Variants in Severe Neonatal Marfan Syndrome and Congenital Heart DefectsGloria K E Zodanu, John H Hwang, Zubin Mehta, et al.
Nature Communications|April 25, 2018
The IL-33-PIN1-IRAK-M axis is critical for type 2 immunity in IL-33-induced allergic airway inflammationMorris Nechama, Jeahoo Kwon, Shuo Wei, et al.
Pageof 84

Showing results (731-740 of 835) with videos related to

Sort By:
Pageof 84
Brain : a Journal of Neurology|August 21, 2016
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasiaJijun Wan, Janos Steffen, Michael Yourshaw, et al.
Journal of Medical Genetics|March 11, 2017
Homozygous mutation in <i>NUP107</i> leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndromeRasim Ozgur Rosti, Bethany N Sotak, Stephanie L Bielas, et al.
Journal of Medical Genetics|June 10, 2006
Segmental uniparental isodisomy on 5q32-qter in a patient with childhood-onset schizophreniaJ L Seal, M C Gornick, N Gogtay, et al.
American Journal of Human Genetics|April 14, 2009
Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndromeAmy E Merrill, Barry Merriman, Claire Farrington-Rock, et al.
Aging Cell|November 20, 2013
Acarbose, 17-α-estradiol, and nordihydroguaiaretic acid extend mouse lifespan preferentially in malesDavid E Harrison, Randy Strong, David B Allison, et al.
Cardiology and Cardiovascular Medicine|March 30, 2026
Novel Missense Variants in <i>TRIM37</i> Associated with Mulibrey Nanism and Complex Congenital Heart DiseaseGloria K E Zodanu, Angela C Zeigler, Jordan Mudery, et al.
American Journal of Medical Genetics. Part A|January 13, 2021
Expansion of NEUROD2 phenotypes to include developmental delay without seizuresEmily K Mis, Annalisa G Sega, Rebecca H Signer, et al.
Elife|May 1, 2016
The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan additionJeremy L Praissman, Tobias Willer, M Osman Sheikh, et al.
International Journal of Molecular Sciences|May 25, 2024
High-Throughput Genomics Identify Novel <i>FBN1/2</i> Variants in Severe Neonatal Marfan Syndrome and Congenital Heart DefectsGloria K E Zodanu, John H Hwang, Zubin Mehta, et al.
Nature Communications|April 25, 2018
The IL-33-PIN1-IRAK-M axis is critical for type 2 immunity in IL-33-induced allergic airway inflammationMorris Nechama, Jeahoo Kwon, Shuo Wei, et al.
Pageof 84