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American Journal of Medical Genetics. Part A
|
February 14, 2018
A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis
Nuriye Dinckan, Renqian Du, Zeynep C Akdemir, et al.
Journal of Pediatric Genetics
|
November 16, 2018
Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm
Danielle A Callaway, Ian M Campbell, Samantha R Stover, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
September 14, 2022
Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST
Alisa Mo, Afshin Saffari, Melanie Kellner, et al.
NPJ Microgravity
|
May 14, 2025
The GENESTAR manual for biospecimen collection biobanking and omics data generation from commercial space missions
Aparna Krishnavajhala, Marie-Claude Gingras, Emmanuel Urquieta, et al.
Human Mutation
|
March 1, 2021
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome
Michael M Khayat, He Li, Varuna Chander, et al.
American Journal of Medical Genetics. Part A
|
November 24, 2021
Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses
Isabella Herman, Angad Jolly, Haowei Du, et al.
Human Mutation
|
February 22, 2022
Variant-level matching for diagnosis and discovery: Challenges and opportunities
Eliete da S Rodrigues, Sean Griffith, Renan Martin, et al.
European Journal of Human Genetics : EJHG
|
September 10, 2024
Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32
Zain Dardas, Dana Marafi, Ruizhi Duan, et al.
Human Genetics
|
July 27, 2018
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis
Renqian Du, Nuriye Dinckan, Xiaofei Song, et al.
Biorxiv : the Preprint Server for Biology
|
November 18, 2024
VizCNV: An integrated platform for concurrent phased BAF and CNV analysis with trio genome sequencing data
Haowei Du, Ming Yin Lun, Lidiia Gagarina, et al.
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Search research articles
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Showing results (51-60 of 195) with videos related to
Sort By:
Page
of 20
American Journal of Medical Genetics. Part A
|
February 14, 2018
A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis
Nuriye Dinckan, Renqian Du, Zeynep C Akdemir, et al.
Journal of Pediatric Genetics
|
November 16, 2018
Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm
Danielle A Callaway, Ian M Campbell, Samantha R Stover, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
September 14, 2022
Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST
Alisa Mo, Afshin Saffari, Melanie Kellner, et al.
NPJ Microgravity
|
May 14, 2025
The GENESTAR manual for biospecimen collection biobanking and omics data generation from commercial space missions
Aparna Krishnavajhala, Marie-Claude Gingras, Emmanuel Urquieta, et al.
Human Mutation
|
March 1, 2021
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome
Michael M Khayat, He Li, Varuna Chander, et al.
American Journal of Medical Genetics. Part A
|
November 24, 2021
Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses
Isabella Herman, Angad Jolly, Haowei Du, et al.
Human Mutation
|
February 22, 2022
Variant-level matching for diagnosis and discovery: Challenges and opportunities
Eliete da S Rodrigues, Sean Griffith, Renan Martin, et al.
European Journal of Human Genetics : EJHG
|
September 10, 2024
Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32
Zain Dardas, Dana Marafi, Ruizhi Duan, et al.
Human Genetics
|
July 27, 2018
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis
Renqian Du, Nuriye Dinckan, Xiaofei Song, et al.
Biorxiv : the Preprint Server for Biology
|
November 18, 2024
VizCNV: An integrated platform for concurrent phased BAF and CNV analysis with trio genome sequencing data
Haowei Du, Ming Yin Lun, Lidiia Gagarina, et al.
Page
of 20