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American Journal of Human Genetics
|
August 10, 2022
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode
Dana Marafi, Nina Kozar, Ruizhi Duan, et al.
Biorxiv : the Preprint Server for Biology
|
November 24, 2025
A comprehensive view of somatic mosaicism by single-cell DNA analysis
Lovelace J Luquette, Tim H H Coorens, Abhiram Natu, et al.
American Journal of Human Genetics
|
June 25, 2019
The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance
Davut Pehlivan, Yavuz Bayram, Nilay Gunes, et al.
Genome Medicine
|
December 19, 2024
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression
Davut Pehlivan, Jesse D Bengtsson, Sameer S Bajikar, et al.
American Journal of Human Genetics
|
September 28, 2021
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
Tadahiro Mitani, Sedat Isikay, Alper Gezdirici, et al.
Biorxiv : the Preprint Server for Biology
|
November 24, 2025
Comprehensive benchmarking of somatic single-nucleotide variant and indel detection at ultra-low allele fractions using short- and long-read data
Yoo-Jin Jiny Ha, Dominika Maziec, Julia Markowski, et al.
American Journal of Human Genetics
|
July 2, 2019
Paralog Studies Augment Gene Discovery: DDX and DHX Genes
Ingrid Paine, Jennifer E Posey, Christopher M Grochowski, et al.
Biorxiv : the Preprint Server for Biology
|
June 4, 2026
Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset
Benjamin D Heavner, Marsha M Wheeler, Jesse D Bengtsson, et al.
Medrxiv : the Preprint Server for Health Sciences
|
March 18, 2026
Familial medullary thyroid carcinoma secondary to an <i>SLC30A9</i> intragenic deletion and translation reinitiation
Donato Iacovazzo, Federica Begalli, Oniz Suleyman, et al.
Annals of Neurology
|
April 26, 2022
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia
Daniel G Calame, Isabella Herman, Reza Maroofian, et al.
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Search research articles
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Showing results (61-70 of 72) with videos related to
Sort By:
Page
of 8
American Journal of Human Genetics
|
August 10, 2022
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode
Dana Marafi, Nina Kozar, Ruizhi Duan, et al.
Biorxiv : the Preprint Server for Biology
|
November 24, 2025
A comprehensive view of somatic mosaicism by single-cell DNA analysis
Lovelace J Luquette, Tim H H Coorens, Abhiram Natu, et al.
American Journal of Human Genetics
|
June 25, 2019
The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance
Davut Pehlivan, Yavuz Bayram, Nilay Gunes, et al.
Genome Medicine
|
December 19, 2024
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression
Davut Pehlivan, Jesse D Bengtsson, Sameer S Bajikar, et al.
American Journal of Human Genetics
|
September 28, 2021
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
Tadahiro Mitani, Sedat Isikay, Alper Gezdirici, et al.
Biorxiv : the Preprint Server for Biology
|
November 24, 2025
Comprehensive benchmarking of somatic single-nucleotide variant and indel detection at ultra-low allele fractions using short- and long-read data
Yoo-Jin Jiny Ha, Dominika Maziec, Julia Markowski, et al.
American Journal of Human Genetics
|
July 2, 2019
Paralog Studies Augment Gene Discovery: DDX and DHX Genes
Ingrid Paine, Jennifer E Posey, Christopher M Grochowski, et al.
Biorxiv : the Preprint Server for Biology
|
June 4, 2026
Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset
Benjamin D Heavner, Marsha M Wheeler, Jesse D Bengtsson, et al.
Medrxiv : the Preprint Server for Health Sciences
|
March 18, 2026
Familial medullary thyroid carcinoma secondary to an <i>SLC30A9</i> intragenic deletion and translation reinitiation
Donato Iacovazzo, Federica Begalli, Oniz Suleyman, et al.
Annals of Neurology
|
April 26, 2022
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia
Daniel G Calame, Isabella Herman, Reza Maroofian, et al.
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of 8