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Showing results (361-370 of 444) with videos related to

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Human Mutation|September 5, 2003
Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effectsOrland Díez, Ana Osorio, Mercedes Durán, et al.
Familial Cancer|June 1, 2015
BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter studyInmaculada de Juan, Sarai Palanca, Asunción Domenech, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2018
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert PanelMelissa A Kelly, Colleen Caleshu, Ana Morales, et al.
JAMA Cardiology|November 3, 2021
Clinical and Functional Characterization of Ryanodine Receptor 2 Variants Implicated in Calcium-Release Deficiency SyndromeThomas M Roston, Jinhong Wei, Wenting Guo, et al.
Human Molecular Genetics|February 27, 2014
Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortiumMara Colombo, Marinus J Blok, Phillip Whiley, et al.
Genome Medicine|August 26, 2024
The PARP1 selective inhibitor saruparib (AZD5305) elicits potent and durable antitumor activity in patient-derived BRCA1/2-associated cancer modelsAndrea Herencia-Ropero, Alba Llop-Guevara, Anna D Staniszewska, et al.
Journal of the American Academy of Dermatology|October 15, 2023
Phase 2 open-label, multicenter, single-arm study of cemiplimab in patients with locally advanced basal cell carcinoma after hedgehog inhibitor therapy: Extended follow-upAlexander J Stratigos, Aleksandar Sekulic, Ketty Peris, et al.
Breast Cancer Research : BCR|October 22, 2020
Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in IberiaAnna Marie De Asis Tuazon, Paul Lott, Mabel Bohórquez, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|May 3, 2008
The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in SpainRoger L Milne, Ana Osorio, Teresa Ramón Y Cajal, et al.
Human Mutation|July 12, 2019
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variantsMelissa S Cline, Giulia Babbi, Sandra Bonache, et al.
Pageof 45

Showing results (361-370 of 444) with videos related to

Sort By:
Pageof 45
Human Mutation|September 5, 2003
Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effectsOrland Díez, Ana Osorio, Mercedes Durán, et al.
Familial Cancer|June 1, 2015
BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter studyInmaculada de Juan, Sarai Palanca, Asunción Domenech, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2018
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert PanelMelissa A Kelly, Colleen Caleshu, Ana Morales, et al.
JAMA Cardiology|November 3, 2021
Clinical and Functional Characterization of Ryanodine Receptor 2 Variants Implicated in Calcium-Release Deficiency SyndromeThomas M Roston, Jinhong Wei, Wenting Guo, et al.
Human Molecular Genetics|February 27, 2014
Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortiumMara Colombo, Marinus J Blok, Phillip Whiley, et al.
Genome Medicine|August 26, 2024
The PARP1 selective inhibitor saruparib (AZD5305) elicits potent and durable antitumor activity in patient-derived BRCA1/2-associated cancer modelsAndrea Herencia-Ropero, Alba Llop-Guevara, Anna D Staniszewska, et al.
Journal of the American Academy of Dermatology|October 15, 2023
Phase 2 open-label, multicenter, single-arm study of cemiplimab in patients with locally advanced basal cell carcinoma after hedgehog inhibitor therapy: Extended follow-upAlexander J Stratigos, Aleksandar Sekulic, Ketty Peris, et al.
Breast Cancer Research : BCR|October 22, 2020
Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in IberiaAnna Marie De Asis Tuazon, Paul Lott, Mabel Bohórquez, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|May 3, 2008
The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in SpainRoger L Milne, Ana Osorio, Teresa Ramón Y Cajal, et al.
Human Mutation|July 12, 2019
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variantsMelissa S Cline, Giulia Babbi, Sandra Bonache, et al.
Pageof 45