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Medrxiv : the Preprint Server for Health Sciences
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April 29, 2025
A novel splice site variant in <i>DEGS1</i> leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved
Holly C Beale, Victor Tse, Joanna Y Lee, et al.
Human Genetics
|
May 6, 2026
A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved
Holly C Beale, Victor Tse, Joanna Y Lee, et al.
NPJ Genomic Medicine
|
May 26, 2023
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population
Anne Slavotinek, Shannon Rego, Nuriye Sahin-Hodoglugil, et al.
NPJ Genomic Medicine
|
October 23, 2023
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population
Anne Slavotinek, Shannon Rego, Nuriye Sahin-Hodoglugil, et al.
American Journal of Human Genetics
|
April 28, 2021
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism
Maya Chopra, Meriel McEntagart, Jill Clayton-Smith, et al.
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of 15
Search research articles
Search
Showing results (141-150 of 145) with videos related to
Sort By:
Page
of 15
You have reached the last page of results.
This site can display upto 145 results.
Medrxiv : the Preprint Server for Health Sciences
|
April 29, 2025
A novel splice site variant in <i>DEGS1</i> leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved
Holly C Beale, Victor Tse, Joanna Y Lee, et al.
Human Genetics
|
May 6, 2026
A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved
Holly C Beale, Victor Tse, Joanna Y Lee, et al.
NPJ Genomic Medicine
|
May 26, 2023
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population
Anne Slavotinek, Shannon Rego, Nuriye Sahin-Hodoglugil, et al.
NPJ Genomic Medicine
|
October 23, 2023
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population
Anne Slavotinek, Shannon Rego, Nuriye Sahin-Hodoglugil, et al.
American Journal of Human Genetics
|
April 28, 2021
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism
Maya Chopra, Meriel McEntagart, Jill Clayton-Smith, et al.
Page
of 15