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Alanna Strong

Showing results (61-70 of 69) with videos related to

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JAMA Network Open|May 8, 2023
Perspectives of Rare Disease Experts on Newborn Genome SequencingNina B Gold, Sophia M Adelson, Nidhi Shah, et al.
European Journal of Human Genetics : EJHG|July 4, 2024
Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genesNoor Smal, Fatma Majdoub, Katrien Janssens, et al.
Nature|August 6, 2010
From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locusKiran Musunuru, Alanna Strong, Maria Frank-Kamenetsky, et al.
American Journal of Medical Genetics. Part A|February 8, 2023
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall statureAlanna Strong, Soumya Rao, Sandra von Hardenberg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2023
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset strokeTheresa Brunet, Benedikt Zott, Victoria Lieftüchter, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 16, 2026
New genotype-phenotype correlations and management recommendations for individuals with RERE variantsDavid Curtis, Xiaonan Zhao, Nichole M Owen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotypeBertrand Isidor, Frédéric Ebstein, Anna Hurst, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 15, 2021
Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of FallotDoris Škorić-Milosavljević, Najim Lahrouchi, Fernanda M Bosada, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of FallotDoris Škorić-Milosavljević, Najim Lahrouchi, Fernanda M Bosada, et al.
Pageof 7

Showing results (61-70 of 69) with videos related to

Sort By:
Pageof 7
You have reached the last page of results.This site can display upto 69 results.
JAMA Network Open|May 8, 2023
Perspectives of Rare Disease Experts on Newborn Genome SequencingNina B Gold, Sophia M Adelson, Nidhi Shah, et al.
European Journal of Human Genetics : EJHG|July 4, 2024
Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genesNoor Smal, Fatma Majdoub, Katrien Janssens, et al.
Nature|August 6, 2010
From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locusKiran Musunuru, Alanna Strong, Maria Frank-Kamenetsky, et al.
American Journal of Medical Genetics. Part A|February 8, 2023
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall statureAlanna Strong, Soumya Rao, Sandra von Hardenberg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2023
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset strokeTheresa Brunet, Benedikt Zott, Victoria Lieftüchter, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 16, 2026
New genotype-phenotype correlations and management recommendations for individuals with RERE variantsDavid Curtis, Xiaonan Zhao, Nichole M Owen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotypeBertrand Isidor, Frédéric Ebstein, Anna Hurst, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 15, 2021
Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of FallotDoris Škorić-Milosavljević, Najim Lahrouchi, Fernanda M Bosada, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of FallotDoris Škorić-Milosavljević, Najim Lahrouchi, Fernanda M Bosada, et al.
Pageof 7