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Human Genetics
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February 15, 2020
Determining the incidence of rare diseases
Matthew N Bainbridge
Breast Cancer Research and Treatment
|
May 20, 2014
Somatic mutation load of estrogen receptor-positive breast tumors predicts overall survival: an analysis of genome sequence data
Svasti Haricharan, Matthew N Bainbridge, Paul Scheet, et al.
International Journal of Neonatal Screening
|
May 1, 2020
Second Tier Molecular Genetic Testing in Newborn Screening for Pompe Disease: Landscape and Challenges
Laurie D Smith, Matthew N Bainbridge, Richard B Parad, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
|
May 26, 2018
Comprehensive Profiling of DNA Repair Defects in Breast Cancer Identifies a Novel Class of Endocrine Therapy Resistance Drivers
Meenakshi Anurag, Nindo Punturi, Jeremy Hoog, et al.
Journal of Virology
|
December 20, 2013
Presence of viral DNA in whole-genome sequencing of brain tumor tissues from the cancer genome atlas
E Susan Amirian, Melissa L Bondy, Qianxing Mo, et al.
Therapeutic Advances in Rare Disease
|
August 2, 2024
The growing research toolbox for SLC13A5 citrate transporter disorder: a rare disease with animal models, cell lines, an ongoing Natural History Study and an engaged patient advocacy organization
Tanya L Brown, Matthew N Bainbridge, Grit Zahn, et al.
Bioinformatics (Oxford, England)
|
October 14, 2006
THOR: targeted high-throughput ortholog reconstructor
Matthew N Bainbridge, René L Warren, An He, et al.
Therapeutic Advances in Medical Oncology
|
February 14, 2022
The DNA damage repair landscape in Black women with breast cancer
Aloran Mazumder, Athena Jimenez, Rachel E Ellsworth, et al.
Cold Spring Harbor Molecular Case Studies
|
October 8, 2020
Postmortem diagnosis of PPA2-associated sudden cardiac death from dried blood spot in a neonate presenting with vocal cord paralysis
Erica Sanford, Marilyn C Jones, Matthew Brigger, et al.
Orphanet Journal of Rare Diseases
|
December 17, 2022
NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry
Caroline R Stanclift, Selina S Dwight, Kevin Lee, et al.
Page
of 7
Search research articles
Search
Showing results (1-10 of 67) with videos related to
Sort By:
Page
of 7
Human Genetics
|
February 15, 2020
Determining the incidence of rare diseases
Matthew N Bainbridge
Breast Cancer Research and Treatment
|
May 20, 2014
Somatic mutation load of estrogen receptor-positive breast tumors predicts overall survival: an analysis of genome sequence data
Svasti Haricharan, Matthew N Bainbridge, Paul Scheet, et al.
International Journal of Neonatal Screening
|
May 1, 2020
Second Tier Molecular Genetic Testing in Newborn Screening for Pompe Disease: Landscape and Challenges
Laurie D Smith, Matthew N Bainbridge, Richard B Parad, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
|
May 26, 2018
Comprehensive Profiling of DNA Repair Defects in Breast Cancer Identifies a Novel Class of Endocrine Therapy Resistance Drivers
Meenakshi Anurag, Nindo Punturi, Jeremy Hoog, et al.
Journal of Virology
|
December 20, 2013
Presence of viral DNA in whole-genome sequencing of brain tumor tissues from the cancer genome atlas
E Susan Amirian, Melissa L Bondy, Qianxing Mo, et al.
Therapeutic Advances in Rare Disease
|
August 2, 2024
The growing research toolbox for SLC13A5 citrate transporter disorder: a rare disease with animal models, cell lines, an ongoing Natural History Study and an engaged patient advocacy organization
Tanya L Brown, Matthew N Bainbridge, Grit Zahn, et al.
Bioinformatics (Oxford, England)
|
October 14, 2006
THOR: targeted high-throughput ortholog reconstructor
Matthew N Bainbridge, René L Warren, An He, et al.
Therapeutic Advances in Medical Oncology
|
February 14, 2022
The DNA damage repair landscape in Black women with breast cancer
Aloran Mazumder, Athena Jimenez, Rachel E Ellsworth, et al.
Cold Spring Harbor Molecular Case Studies
|
October 8, 2020
Postmortem diagnosis of PPA2-associated sudden cardiac death from dried blood spot in a neonate presenting with vocal cord paralysis
Erica Sanford, Marilyn C Jones, Matthew Brigger, et al.
Orphanet Journal of Rare Diseases
|
December 17, 2022
NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry
Caroline R Stanclift, Selina S Dwight, Kevin Lee, et al.
Page
of 7