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European Journal of Medical Genetics
|
July 9, 2017
Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1
Anne Slavotinek, Heather Pua, Ugur Hodoglugil, et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc
|
September 2, 2018
Well-differentiated papillary mesothelioma of the peritoneum is genetically defined by mutually exclusive mutations in TRAF7 and CDC42
Meredith Stevers, Joseph T Rabban, Karuna Garg, et al.
American Journal of Obstetrics and Gynecology
|
May 10, 2025
Genetic diseases underlying a spectrum of fetal effusions
Natalie B Gulrajani, Billie R Lianoglou, Katie Tick, et al.
Histopathology
|
November 1, 2018
CRTC1-MAML2 fusion in mucoepidermoid carcinoma of the breast
Gregory R Bean, Gregor Krings, Christopher N Otis, et al.
American Journal of Medical Genetics. Part A
|
March 19, 2026
A Case of Encephalocraniocutaneous Lipomatosis (ECCL) With Atypical Clinical Presentation Diagnosed on Molecular Testing: FGFR1 ECCL Tumor Risk
Abhinav Thakral, Carmen Maria Avram Santoli, Olajire Idowu, et al.
Virchows Archiv : an International Journal of Pathology
|
June 20, 2026
Study of inborn errors of immunity associated lymphoid proliferations identifies association of presence of somatic variations with large cell morphology, copy number alterations in TNFAIP3 and heterozygous variants in EMSY
Arzu Saglam, Jyoti Kumar, Jessica Van Ziffle, et al.
Prenatal Diagnosis
|
May 31, 2021
Preference for secondary findings in prenatal and pediatric exome sequencing
Kate Swanson, Teresa N Sparks, Billie R Lianoglou, et al.
Medrxiv : the Preprint Server for Health Sciences
|
June 9, 2023
Diagnostic Yield of Exome Sequencing in a Diverse Pediatric and Prenatal Population is not Associated with Genetic Ancestry
Yusuph Mavura, Nuriye Sahin-Hodoglugil, Ugur Hodoglugil, et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc
|
November 18, 2017
Adenomatoid tumors of the male and female genital tract are defined by TRAF7 mutations that drive aberrant NF-kB pathway activation
Benjamin Goode, Nancy M Joseph, Meredith Stevers, et al.
NPJ Genomic Medicine
|
January 3, 2024
Genetic ancestry and diagnostic yield of exome sequencing in a diverse population
Yusuph Mavura, Nuriye Sahin-Hodoglugil, Ugur Hodoglugil, et al.
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of 6
Search research articles
Search
Showing results (21-30 of 58) with videos related to
Sort By:
Page
of 6
European Journal of Medical Genetics
|
July 9, 2017
Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1
Anne Slavotinek, Heather Pua, Ugur Hodoglugil, et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc
|
September 2, 2018
Well-differentiated papillary mesothelioma of the peritoneum is genetically defined by mutually exclusive mutations in TRAF7 and CDC42
Meredith Stevers, Joseph T Rabban, Karuna Garg, et al.
American Journal of Obstetrics and Gynecology
|
May 10, 2025
Genetic diseases underlying a spectrum of fetal effusions
Natalie B Gulrajani, Billie R Lianoglou, Katie Tick, et al.
Histopathology
|
November 1, 2018
CRTC1-MAML2 fusion in mucoepidermoid carcinoma of the breast
Gregory R Bean, Gregor Krings, Christopher N Otis, et al.
American Journal of Medical Genetics. Part A
|
March 19, 2026
A Case of Encephalocraniocutaneous Lipomatosis (ECCL) With Atypical Clinical Presentation Diagnosed on Molecular Testing: FGFR1 ECCL Tumor Risk
Abhinav Thakral, Carmen Maria Avram Santoli, Olajire Idowu, et al.
Virchows Archiv : an International Journal of Pathology
|
June 20, 2026
Study of inborn errors of immunity associated lymphoid proliferations identifies association of presence of somatic variations with large cell morphology, copy number alterations in TNFAIP3 and heterozygous variants in EMSY
Arzu Saglam, Jyoti Kumar, Jessica Van Ziffle, et al.
Prenatal Diagnosis
|
May 31, 2021
Preference for secondary findings in prenatal and pediatric exome sequencing
Kate Swanson, Teresa N Sparks, Billie R Lianoglou, et al.
Medrxiv : the Preprint Server for Health Sciences
|
June 9, 2023
Diagnostic Yield of Exome Sequencing in a Diverse Pediatric and Prenatal Population is not Associated with Genetic Ancestry
Yusuph Mavura, Nuriye Sahin-Hodoglugil, Ugur Hodoglugil, et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc
|
November 18, 2017
Adenomatoid tumors of the male and female genital tract are defined by TRAF7 mutations that drive aberrant NF-kB pathway activation
Benjamin Goode, Nancy M Joseph, Meredith Stevers, et al.
NPJ Genomic Medicine
|
January 3, 2024
Genetic ancestry and diagnostic yield of exome sequencing in a diverse population
Yusuph Mavura, Nuriye Sahin-Hodoglugil, Ugur Hodoglugil, et al.
Page
of 6