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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 6, 2018
Expanding the phenome and variome of skeletal dysplasia
Sateesh Maddirevula, Saud Alsahli, Lamees Alhabeeb, et al.
Cell Reports
|
January 6, 2015
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families
Anas M Alazami, Nisha Patel, Hanan E Shamseldin, et al.
Brain : a Journal of Neurology
|
March 22, 2025
ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration
Jordi Del-Pozo-Rodriguez, Peggy Tilly, Romain Lecat, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 11, 2026
High Throughput Evidence Generation to Support Tentative Gene Disease Relationship from A Cohort Enriched for Autozygosity and Founder Effect
Khadijah Bakur, Bader Alhaddad, Ali Balubaid, et al.
American Journal of Human Genetics
|
May 28, 2019
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population
Dorota Monies, Mohammed Abouelhoda, Mirna Assoum, et al.
Human Genetics
|
June 11, 2017
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes
Dorota Monies, Mohamed Abouelhoda, Moeenaldeen AlSayed, et al.
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Showing results (81-90 of 86) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 86 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 6, 2018
Expanding the phenome and variome of skeletal dysplasia
Sateesh Maddirevula, Saud Alsahli, Lamees Alhabeeb, et al.
Cell Reports
|
January 6, 2015
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families
Anas M Alazami, Nisha Patel, Hanan E Shamseldin, et al.
Brain : a Journal of Neurology
|
March 22, 2025
ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration
Jordi Del-Pozo-Rodriguez, Peggy Tilly, Romain Lecat, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 11, 2026
High Throughput Evidence Generation to Support Tentative Gene Disease Relationship from A Cohort Enriched for Autozygosity and Founder Effect
Khadijah Bakur, Bader Alhaddad, Ali Balubaid, et al.
American Journal of Human Genetics
|
May 28, 2019
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population
Dorota Monies, Mohammed Abouelhoda, Mirna Assoum, et al.
Human Genetics
|
June 11, 2017
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes
Dorota Monies, Mohamed Abouelhoda, Moeenaldeen AlSayed, et al.
Page
of 9