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Clinical Genetics
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May 9, 2023
Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits
Hasnaa M Elbendary, Dana Marafi, Ahmed K Saad, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 24, 2025
Enriching for Answers in Rare Diseases
Yilei Fu, Adam C English, Luis F Paulin, et al.
Neurology. Genetics
|
May 12, 2021
Biallelic Pathogenic Variants in <i>TNNT3</i> Associated With Congenital Myopathy
Daniel G Calame, Jawid Fatih, Isabella Herman, et al.
American Journal of Medical Genetics. Part A
|
June 5, 2021
Risk of sudden cardiac death in EXOSC5-related disease
Daniel G Calame, Isabella Herman, Jawid M Fatih, et al.
American Journal of Medical Genetics. Part A
|
March 25, 2022
Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family
Elifcan Taşdelen, Daniel G Calame, Gulsen Akay, 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.
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.
Annals of Clinical and Translational Neurology
|
September 15, 2021
Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant
Daniel G Calame, Jawid M Fatih, Isabella Herman, et al.
Brain : a Journal of Neurology
|
February 5, 2026
Diagnostic yield of genome sequencing in children with progressive movement disorders
Luca Schierbaum, Enrique Gonzalez Saez-Diez, Amy Tam, et al.
Nucleic Acids Research
|
December 28, 2023
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data
Haowei Du, Zain Dardas, Angad Jolly, et al.
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Search research articles
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Showing results (21-30 of 71) with videos related to
Sort By:
Page
of 8
Clinical Genetics
|
May 9, 2023
Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits
Hasnaa M Elbendary, Dana Marafi, Ahmed K Saad, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 24, 2025
Enriching for Answers in Rare Diseases
Yilei Fu, Adam C English, Luis F Paulin, et al.
Neurology. Genetics
|
May 12, 2021
Biallelic Pathogenic Variants in <i>TNNT3</i> Associated With Congenital Myopathy
Daniel G Calame, Jawid Fatih, Isabella Herman, et al.
American Journal of Medical Genetics. Part A
|
June 5, 2021
Risk of sudden cardiac death in EXOSC5-related disease
Daniel G Calame, Isabella Herman, Jawid M Fatih, et al.
American Journal of Medical Genetics. Part A
|
March 25, 2022
Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family
Elifcan Taşdelen, Daniel G Calame, Gulsen Akay, 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.
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.
Annals of Clinical and Translational Neurology
|
September 15, 2021
Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant
Daniel G Calame, Jawid M Fatih, Isabella Herman, et al.
Brain : a Journal of Neurology
|
February 5, 2026
Diagnostic yield of genome sequencing in children with progressive movement disorders
Luca Schierbaum, Enrique Gonzalez Saez-Diez, Amy Tam, et al.
Nucleic Acids Research
|
December 28, 2023
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data
Haowei Du, Zain Dardas, Angad Jolly, et al.
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of 8