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Clinical Genetics
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March 13, 2019
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome
Alistair T Pagnamenta, Pamela J Kaisaki, Fenella Bennett, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
September 4, 2019
The phenotype of Sotos syndrome in adulthood: A review of 44 individuals
Alison Foster, Anna Zachariou, Chey Loveday, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 12, 2018
Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield
Kate L Thomson, Elizabeth Ormondroyd, Andrew R Harper, et al.
BJU International
|
May 27, 2018
Psychosocial impact of undergoing prostate cancer screening for men with BRCA1 or BRCA2 mutations
Elizabeth K Bancroft, Sibel Saya, Elizabeth C Page, et al.
European Urology
|
June 14, 2020
Prostate Cancer Risk by BRCA2 Genomic Regions
Tommy Nyberg, Debra Frost, Daniel Barrowdale, et al.
European Urology
|
September 10, 2019
Prostate Cancer Risks for Male BRCA1 and BRCA2 Mutation Carriers: A Prospective Cohort Study
Tommy Nyberg, Debra Frost, Daniel Barrowdale, et al.
The New England Journal of Medicine
|
September 9, 2020
Eflornithine plus Sulindac for Prevention of Progression in Familial Adenomatous Polyposis
Carol A Burke, Evelien Dekker, Patrick Lynch, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 23, 2018
Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study
Fabio Girardi, Daniel R Barnes, Daniel Barrowdale, et al.
American Journal of Medical Genetics. Part A
|
May 1, 2014
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum
Kim M Keppler-Noreuil, Julie C Sapp, Marjorie J Lindhurst, et al.
Human Mutation
|
January 12, 2016
De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability
Bertrand Isidor, Sébastien Küry, Jill A Rosenfeld, et al.
Page
of 10
Search research articles
Search
Showing results (61-70 of 98) with videos related to
Sort By:
Page
of 10
Clinical Genetics
|
March 13, 2019
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome
Alistair T Pagnamenta, Pamela J Kaisaki, Fenella Bennett, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
September 4, 2019
The phenotype of Sotos syndrome in adulthood: A review of 44 individuals
Alison Foster, Anna Zachariou, Chey Loveday, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 12, 2018
Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield
Kate L Thomson, Elizabeth Ormondroyd, Andrew R Harper, et al.
BJU International
|
May 27, 2018
Psychosocial impact of undergoing prostate cancer screening for men with BRCA1 or BRCA2 mutations
Elizabeth K Bancroft, Sibel Saya, Elizabeth C Page, et al.
European Urology
|
June 14, 2020
Prostate Cancer Risk by BRCA2 Genomic Regions
Tommy Nyberg, Debra Frost, Daniel Barrowdale, et al.
European Urology
|
September 10, 2019
Prostate Cancer Risks for Male BRCA1 and BRCA2 Mutation Carriers: A Prospective Cohort Study
Tommy Nyberg, Debra Frost, Daniel Barrowdale, et al.
The New England Journal of Medicine
|
September 9, 2020
Eflornithine plus Sulindac for Prevention of Progression in Familial Adenomatous Polyposis
Carol A Burke, Evelien Dekker, Patrick Lynch, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 23, 2018
Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study
Fabio Girardi, Daniel R Barnes, Daniel Barrowdale, et al.
American Journal of Medical Genetics. Part A
|
May 1, 2014
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum
Kim M Keppler-Noreuil, Julie C Sapp, Marjorie J Lindhurst, et al.
Human Mutation
|
January 12, 2016
De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability
Bertrand Isidor, Sébastien Küry, Jill A Rosenfeld, et al.
Page
of 10