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Ruth Y Eberhardt

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

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American Journal of Human Genetics|October 9, 2021
Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disordersEugene J Gardner, Alejandro Sifrim, Sarah J Lindsay, et al.
Nucleic Acids Research|December 1, 2011
The Pfam protein families databaseMarco Punta, Penny C Coggill, Ruth Y Eberhardt, et al.
Nature Communications|January 28, 2021
The contribution of X-linked coding variation to severe developmental disordersHilary C Martin, Eugene J Gardner, Kaitlin E Samocha, et al.
The New England Journal of Medicine|April 12, 2023
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and IrelandCaroline F Wright, Patrick Campbell, Ruth Y Eberhardt, et al.
Wellcome Open Research|January 22, 2025
Exome sequencing of UK birth cohortsMahmoud Koko, Laurie Fabian, Iaroslav Popov, et al.
Nature Genetics|September 23, 2024
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populationsV Kartik Chundru, Zhancheng Zhang, Klaudia Walter, et al.
American Journal of Human Genetics|May 22, 2021
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanismsCaroline F Wright, Nicholas M Quaife, Laura Ramos-Hernández, et al.
Nature|October 15, 2020
Evidence for 28 genetic disorders discovered by combining healthcare and research dataJoanna Kaplanis, Kaitlin E Samocha, Laurens Wiel, et al.
The Journal of Clinical Endocrinology and Metabolism|June 20, 2023
Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and PubertyKatie Duckett, Alice Williamson, John W R Kincaid, et al.
Lancet (London, England)|February 5, 2019
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort studyJenny Lord, Dominic J McMullan, Ruth Y Eberhardt, 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.
American Journal of Human Genetics|October 9, 2021
Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disordersEugene J Gardner, Alejandro Sifrim, Sarah J Lindsay, et al.
Nucleic Acids Research|December 1, 2011
The Pfam protein families databaseMarco Punta, Penny C Coggill, Ruth Y Eberhardt, et al.
Nature Communications|January 28, 2021
The contribution of X-linked coding variation to severe developmental disordersHilary C Martin, Eugene J Gardner, Kaitlin E Samocha, et al.
The New England Journal of Medicine|April 12, 2023
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and IrelandCaroline F Wright, Patrick Campbell, Ruth Y Eberhardt, et al.
Wellcome Open Research|January 22, 2025
Exome sequencing of UK birth cohortsMahmoud Koko, Laurie Fabian, Iaroslav Popov, et al.
Nature Genetics|September 23, 2024
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populationsV Kartik Chundru, Zhancheng Zhang, Klaudia Walter, et al.
American Journal of Human Genetics|May 22, 2021
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanismsCaroline F Wright, Nicholas M Quaife, Laura Ramos-Hernández, et al.
Nature|October 15, 2020
Evidence for 28 genetic disorders discovered by combining healthcare and research dataJoanna Kaplanis, Kaitlin E Samocha, Laurens Wiel, et al.
The Journal of Clinical Endocrinology and Metabolism|June 20, 2023
Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and PubertyKatie Duckett, Alice Williamson, John W R Kincaid, et al.
Lancet (London, England)|February 5, 2019
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort studyJenny Lord, Dominic J McMullan, Ruth Y Eberhardt, et al.
Pageof 3