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JAMA Network Open
|
May 8, 2023
Perspectives of Rare Disease Experts on Newborn Genome Sequencing
Nina 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 genes
Noor Smal, Fatma Majdoub, Katrien Janssens, et al.
Nature
|
August 6, 2010
From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus
Kiran 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 stature
Alanna 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 stroke
Theresa 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 variants
David 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 phenotype
Bertrand 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 Fallot
Doris 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 Fallot
Doris Škorić-Milosavljević, Najim Lahrouchi, Fernanda M Bosada, et al.
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of 7
Search research articles
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Showing results (61-70 of 69) with videos related to
Sort By:
Page
of 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 Sequencing
Nina 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 genes
Noor Smal, Fatma Majdoub, Katrien Janssens, et al.
Nature
|
August 6, 2010
From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus
Kiran 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 stature
Alanna 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 stroke
Theresa 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 variants
David 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 phenotype
Bertrand 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 Fallot
Doris 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 Fallot
Doris Škorić-Milosavljević, Najim Lahrouchi, Fernanda M Bosada, et al.
Page
of 7