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Genome Medicine
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August 18, 2025
Improving automated deep phenotyping through large language models using retrieval-augmented generation
Brandon T Garcia, Lauren Westerfield, Priya Yelemali, et al.
Genetics
|
September 7, 2017
Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research
Michael F Wangler, Shinya Yamamoto, Hsiao-Tuan Chao, et al.
Molecular Genetics and Metabolism
|
September 26, 2018
Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis
Jaya Punetha, Loren Mackay-Loder, Tamar Harel, et al.
American Journal of Medical Genetics. Part A
|
February 12, 2021
Clinical characterization of individuals with the distal 1q21.1 microdeletion
Stacey D Edwards, Katharina V Schulze, Jill A Rosenfeld, et al.
American Journal of Medical Genetics. Part A
|
November 3, 2023
Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature
Priya T Bhola, Radha Mishra, Jennifer E Posey, et al.
Medrxiv : the Preprint Server for Health Sciences
|
August 20, 2025
Community-Driven Copy Number Variant Discovery at Scale: Results from a Rare Disease Genomics Hackathon
Ming Yin Lun, Jennifer E Posey, Jesse D Bengtsson, et al.
American Journal of Medical Genetics. Part A
|
April 8, 2015
Adult presentation of X-linked Conradi-Hünermann-Happle syndrome
Jennifer E Posey, Lindsay C Burrage, Philippe M Campeau, et al.
Genome Medicine
|
February 4, 2016
A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics
Regis A James, Ian M Campbell, Edward S Chen, et al.
Orphanet Journal of Rare Diseases
|
August 19, 2021
PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data
Elizabeth Wohler, Renan Martin, Sean Griffith, et al.
American Journal of Medical Genetics. Part A
|
November 11, 2021
Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait
Ghada M H Abdel-Salam, Ruizhi Duan, Mohamed S Abdel-Hamid, et al.
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of 20
Search research articles
Search
Showing results (21-30 of 195) with videos related to
Sort By:
Page
of 20
Genome Medicine
|
August 18, 2025
Improving automated deep phenotyping through large language models using retrieval-augmented generation
Brandon T Garcia, Lauren Westerfield, Priya Yelemali, et al.
Genetics
|
September 7, 2017
Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research
Michael F Wangler, Shinya Yamamoto, Hsiao-Tuan Chao, et al.
Molecular Genetics and Metabolism
|
September 26, 2018
Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis
Jaya Punetha, Loren Mackay-Loder, Tamar Harel, et al.
American Journal of Medical Genetics. Part A
|
February 12, 2021
Clinical characterization of individuals with the distal 1q21.1 microdeletion
Stacey D Edwards, Katharina V Schulze, Jill A Rosenfeld, et al.
American Journal of Medical Genetics. Part A
|
November 3, 2023
Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature
Priya T Bhola, Radha Mishra, Jennifer E Posey, et al.
Medrxiv : the Preprint Server for Health Sciences
|
August 20, 2025
Community-Driven Copy Number Variant Discovery at Scale: Results from a Rare Disease Genomics Hackathon
Ming Yin Lun, Jennifer E Posey, Jesse D Bengtsson, et al.
American Journal of Medical Genetics. Part A
|
April 8, 2015
Adult presentation of X-linked Conradi-Hünermann-Happle syndrome
Jennifer E Posey, Lindsay C Burrage, Philippe M Campeau, et al.
Genome Medicine
|
February 4, 2016
A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics
Regis A James, Ian M Campbell, Edward S Chen, et al.
Orphanet Journal of Rare Diseases
|
August 19, 2021
PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data
Elizabeth Wohler, Renan Martin, Sean Griffith, et al.
American Journal of Medical Genetics. Part A
|
November 11, 2021
Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait
Ghada M H Abdel-Salam, Ruizhi Duan, Mohamed S Abdel-Hamid, et al.
Page
of 20