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NPJ Genomic Medicine
|
August 14, 2023
IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma
Ohad Wormser, Yonatan Perez, Vadim Dolgin, et al.
NPJ Genomic Medicine
|
October 10, 2025
A ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5'-UTR loss-of-function CEP83 variant
Matan M Jean, Anan Yunis, Tzofit Elbaz-Biton, et al.
Human Genetics
|
April 12, 2024
VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19
Noam Hadar, Vadim Dolgin, Katya Oustinov, et al.
Journal of Medical Genetics
|
November 5, 2024
Heterozygous de novo variants in <i>HSPD1</i> cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation
Marina Eskin-Schwartz, Shaikah Seraidy, Eyal Paz, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation
|
August 15, 2025
Intronic and Coding Genetic Variants in Autosomal Recessive Polycystic Kidney Disease Among Israeli Bedouins of Arabian Peninsula Ancestry
Nadav Agam, Ohad Wormser, Ari Biller, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
June 10, 2025
Early-Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B
Tomer Poleg, Noam Hadar, Eyal Kristal, et al.
Studies in Health Technology and Informatics
|
January 25, 2024
Matching Patients to Accelerate Clinical Trials (MPACT): Enabling Technology for Oncology Clinical Trial Workflow
Nhan V Do, Danne C Elbers, Nathanael R Fillmore, et al.
JAMA Dermatology
|
August 31, 2022
Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals
F Buket Basmanav, Nicole Cesarato, Sheetal Kumar, et al.
Biodiversity Data Journal
|
November 10, 2021
Occurrences of Threatened Species included in the Third Edition of the Red Data Book of the Komi Republic (Russia)
Svetlana Degteva, Anatoly Bobretsov, Yury Bobrov, et al.
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Search research articles
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Showing results (191-200 of 199) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 199 results.
NPJ Genomic Medicine
|
August 14, 2023
IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma
Ohad Wormser, Yonatan Perez, Vadim Dolgin, et al.
NPJ Genomic Medicine
|
October 10, 2025
A ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5'-UTR loss-of-function CEP83 variant
Matan M Jean, Anan Yunis, Tzofit Elbaz-Biton, et al.
Human Genetics
|
April 12, 2024
VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19
Noam Hadar, Vadim Dolgin, Katya Oustinov, et al.
Journal of Medical Genetics
|
November 5, 2024
Heterozygous de novo variants in <i>HSPD1</i> cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation
Marina Eskin-Schwartz, Shaikah Seraidy, Eyal Paz, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation
|
August 15, 2025
Intronic and Coding Genetic Variants in Autosomal Recessive Polycystic Kidney Disease Among Israeli Bedouins of Arabian Peninsula Ancestry
Nadav Agam, Ohad Wormser, Ari Biller, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
June 10, 2025
Early-Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B
Tomer Poleg, Noam Hadar, Eyal Kristal, et al.
Studies in Health Technology and Informatics
|
January 25, 2024
Matching Patients to Accelerate Clinical Trials (MPACT): Enabling Technology for Oncology Clinical Trial Workflow
Nhan V Do, Danne C Elbers, Nathanael R Fillmore, et al.
JAMA Dermatology
|
August 31, 2022
Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals
F Buket Basmanav, Nicole Cesarato, Sheetal Kumar, et al.
Biodiversity Data Journal
|
November 10, 2021
Occurrences of Threatened Species included in the Third Edition of the Red Data Book of the Komi Republic (Russia)
Svetlana Degteva, Anatoly Bobretsov, Yury Bobrov, et al.
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of 20