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Rachel Susman

Showing results (1-10 of 20) with videos related to

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Clinical Dysmorphology|March 15, 2006
A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotypeJulie McGaughran, Stephen Sinnott, Rachel Susman, et al.
Frontiers in Oncology|October 4, 2021
Birt-Hogg-Dubé Syndrome and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome: An Effective Multidisciplinary Approach to Hereditary Renal Cancer Predisposing SyndromesMohammad Al-Shinnag, Helen Marfan, Rachel Susman, et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc|July 6, 2019
Spectrum of gastrointestinal tract pathology in a multicenter cohort of 43 Cowden syndrome patientsJennifer Borowsky, Namrata Setia, Christophe Rosty, et al.
European Journal of Human Genetics : EJHG|May 28, 2009
Novel SOX2 partner-factor domain mutation in a four-generation familyMarija Mihelec, Peter Abraham, Kate Gibson, et al.
European Journal of Human Genetics : EJHG|March 31, 2018
Psychological outcomes and surgical decisions after genetic testing in women newly diagnosed with breast cancer with and without a family historyBettina Meiser, Veronica F Quinn, Gillian Mitchell, et al.
Journal of Medical Genetics|November 10, 2020
Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utilityEmma Tudini, Aimee L Davidson, Uwe Dressel, et al.
JCO Precision Oncology|February 27, 2024
Cancer Risks Associated With <i>TP53</i> Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome SpectrumCristina Fortuno, Bing-Jian Feng, Courtney Carroll, et al.
Journal of Medical Genetics|September 12, 2018
Bayesian approach to determining penetrance of pathogenic SDH variantsDiana E Benn, Ying Zhu, Katrina A Andrews, et al.
Clinical Epigenetics|June 3, 2023
Identifying primary and secondary MLH1 epimutation carriers displaying low-level constitutional MLH1 methylation using droplet digital PCR and genome-wide DNA methylation profiling of colorectal cancersJihoon E Joo, Khalid Mahmood, Romy Walker, et al.
Cancers|October 28, 2023
DNA Mismatch Repair Gene Variant Classification: Evaluating the Utility of Somatic Mutations and Mismatch Repair Deficient Colonic Crypts and Endometrial GlandsRomy Walker, Khalid Mahmood, Julia Como, et al.
Pageof 2

Showing results (1-10 of 20) with videos related to

Sort By:
Pageof 2
Clinical Dysmorphology|March 15, 2006
A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotypeJulie McGaughran, Stephen Sinnott, Rachel Susman, et al.
Frontiers in Oncology|October 4, 2021
Birt-Hogg-Dubé Syndrome and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome: An Effective Multidisciplinary Approach to Hereditary Renal Cancer Predisposing SyndromesMohammad Al-Shinnag, Helen Marfan, Rachel Susman, et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc|July 6, 2019
Spectrum of gastrointestinal tract pathology in a multicenter cohort of 43 Cowden syndrome patientsJennifer Borowsky, Namrata Setia, Christophe Rosty, et al.
European Journal of Human Genetics : EJHG|May 28, 2009
Novel SOX2 partner-factor domain mutation in a four-generation familyMarija Mihelec, Peter Abraham, Kate Gibson, et al.
European Journal of Human Genetics : EJHG|March 31, 2018
Psychological outcomes and surgical decisions after genetic testing in women newly diagnosed with breast cancer with and without a family historyBettina Meiser, Veronica F Quinn, Gillian Mitchell, et al.
Journal of Medical Genetics|November 10, 2020
Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utilityEmma Tudini, Aimee L Davidson, Uwe Dressel, et al.
JCO Precision Oncology|February 27, 2024
Cancer Risks Associated With <i>TP53</i> Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome SpectrumCristina Fortuno, Bing-Jian Feng, Courtney Carroll, et al.
Journal of Medical Genetics|September 12, 2018
Bayesian approach to determining penetrance of pathogenic SDH variantsDiana E Benn, Ying Zhu, Katrina A Andrews, et al.
Clinical Epigenetics|June 3, 2023
Identifying primary and secondary MLH1 epimutation carriers displaying low-level constitutional MLH1 methylation using droplet digital PCR and genome-wide DNA methylation profiling of colorectal cancersJihoon E Joo, Khalid Mahmood, Romy Walker, et al.
Cancers|October 28, 2023
DNA Mismatch Repair Gene Variant Classification: Evaluating the Utility of Somatic Mutations and Mismatch Repair Deficient Colonic Crypts and Endometrial GlandsRomy Walker, Khalid Mahmood, Julia Como, et al.
Pageof 2