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Brain : a Journal of Neurology
|
November 11, 2023
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
Rauan Kaiyrzhanov, Aboulfazl Rad, Sheng-Jia Lin, et al.
American Journal of Human Genetics
|
April 17, 2025
Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder
Stephanie Efthymiou, Cailyn P Leo, Chenghong Deng, et al.
Brain : a Journal of Neurology
|
February 9, 2023
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders
Afshin Saffari, Tracy Lau, Homa Tajsharghi, et al.
British Journal of Cancer
|
January 5, 2018
Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition
Christos Mikropoulos, Christina G Hutten Selkirk, Sibel Saya, et al.
European Urology
|
February 4, 2014
Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT study
Elizabeth K Bancroft, Elizabeth C Page, Elena Castro, et al.
British Journal of Cancer
|
March 7, 2018
Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition
Christos Mikropoulos, Christina G Hutten Selkirk, Sibel Saya, et al.
American Journal of Human Genetics
|
October 19, 2025
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
Dmitrijs Rots, Taryn E Jakub, Crystal Keung, et al.
American Journal of Human Genetics
|
May 17, 2023
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
Dmitrijs Rots, Taryn E Jakub, Crystal Keung, et al.
European Urology
|
February 19, 2026
Targeted Prostate Cancer Screening in Carriers of BRCA1 or BRCA2 Pathogenic Germline Variants Detects Clinically Relevant Disease: 5-year Results from the IMPACT Study
Elizabeth K Bancroft, Elizabeth C Page, Jana McHugh, et al.
The Journal of Clinical Endocrinology and Metabolism
|
October 2, 2020
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
Félixe Pelletier, Stefanie Perrier, Ferdy K Cayami, et al.
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Search research articles
Search
Showing results (111-120 of 123) with videos related to
Sort By:
Page
of 13
Brain : a Journal of Neurology
|
November 11, 2023
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
Rauan Kaiyrzhanov, Aboulfazl Rad, Sheng-Jia Lin, et al.
American Journal of Human Genetics
|
April 17, 2025
Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder
Stephanie Efthymiou, Cailyn P Leo, Chenghong Deng, et al.
Brain : a Journal of Neurology
|
February 9, 2023
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders
Afshin Saffari, Tracy Lau, Homa Tajsharghi, et al.
British Journal of Cancer
|
January 5, 2018
Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition
Christos Mikropoulos, Christina G Hutten Selkirk, Sibel Saya, et al.
European Urology
|
February 4, 2014
Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT study
Elizabeth K Bancroft, Elizabeth C Page, Elena Castro, et al.
British Journal of Cancer
|
March 7, 2018
Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition
Christos Mikropoulos, Christina G Hutten Selkirk, Sibel Saya, et al.
American Journal of Human Genetics
|
October 19, 2025
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
Dmitrijs Rots, Taryn E Jakub, Crystal Keung, et al.
American Journal of Human Genetics
|
May 17, 2023
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
Dmitrijs Rots, Taryn E Jakub, Crystal Keung, et al.
European Urology
|
February 19, 2026
Targeted Prostate Cancer Screening in Carriers of BRCA1 or BRCA2 Pathogenic Germline Variants Detects Clinically Relevant Disease: 5-year Results from the IMPACT Study
Elizabeth K Bancroft, Elizabeth C Page, Jana McHugh, et al.
The Journal of Clinical Endocrinology and Metabolism
|
October 2, 2020
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
Félixe Pelletier, Stefanie Perrier, Ferdy K Cayami, et al.
Page
of 13