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Human Genetics
|
March 30, 2016
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue
Anas M Alazami, Sarah M Al-Qattan, Eissa Faqeih, et al.
Orphanet Journal of Rare Diseases
|
March 14, 2024
Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa
Saif Al Yaarubi, Afaf Alsagheir, Azza Al Shidhani, et al.
Genome Biology
|
June 20, 2020
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics
Sateesh Maddirevula, Hiroyuki Kuwahara, Nour Ewida, et al.
HGG Advances
|
March 11, 2026
Biallelic Variants in RNU6ATAC Result in a Minor Spliceopathy Characterized by Transcriptome-Wide Minor Intron Retention Events and Short Stature with Variable Multisystem Manifestations
Rodrigo Mendez, Taylor M Arriaga, Jialan Ma, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 15, 2020
The morbid genome of ciliopathies: an update
Hanan E Shamseldin, Ranad Shaheen, Nour Ewida, et al.
Genome Medicine
|
September 30, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients
Khadijah Bakur, Halima Hamid, Bader Alhaddad, et al.
Medrxiv : the Preprint Server for Health Sciences
|
March 18, 2024
Neurodevelopmental disorders associated variants in <i>ADAT3</i> disrupt the activity of the ADAT2/ADAT3 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
|
April 6, 2018
Expanding the phenome and variome of skeletal dysplasia
Sateesh Maddirevula, Saud Alsahli, Lamees Alhabeeb, 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.
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.
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of 6
Search research articles
Search
Showing results (41-50 of 51) with videos related to
Sort By:
Page
of 6
Human Genetics
|
March 30, 2016
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue
Anas M Alazami, Sarah M Al-Qattan, Eissa Faqeih, et al.
Orphanet Journal of Rare Diseases
|
March 14, 2024
Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa
Saif Al Yaarubi, Afaf Alsagheir, Azza Al Shidhani, et al.
Genome Biology
|
June 20, 2020
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics
Sateesh Maddirevula, Hiroyuki Kuwahara, Nour Ewida, et al.
HGG Advances
|
March 11, 2026
Biallelic Variants in RNU6ATAC Result in a Minor Spliceopathy Characterized by Transcriptome-Wide Minor Intron Retention Events and Short Stature with Variable Multisystem Manifestations
Rodrigo Mendez, Taylor M Arriaga, Jialan Ma, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 15, 2020
The morbid genome of ciliopathies: an update
Hanan E Shamseldin, Ranad Shaheen, Nour Ewida, et al.
Genome Medicine
|
September 30, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients
Khadijah Bakur, Halima Hamid, Bader Alhaddad, et al.
Medrxiv : the Preprint Server for Health Sciences
|
March 18, 2024
Neurodevelopmental disorders associated variants in <i>ADAT3</i> disrupt the activity of the ADAT2/ADAT3 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
|
April 6, 2018
Expanding the phenome and variome of skeletal dysplasia
Sateesh Maddirevula, Saud Alsahli, Lamees Alhabeeb, 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.
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.
Page
of 6