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Medrxiv : the Preprint Server for Health Sciences
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May 10, 2023
The Phenotypic Spectrum of <i>COL4A3</i> Heterozygotes
Kaushal V Solanki, Yirui Hu, Bryn S Moore, et al.
Prenatal Diagnosis
|
April 11, 2025
Artifacts, Not Differences in Sex Development, Are the Predominant Cause of Phenotypic Sex Discordance With Prenatal Cell-Free DNA Screening: A Review of 33 Cases
Qiliang Ding, Nicole L Hoppman, Erik C Thorland, et al.
Plos Genetics
|
January 20, 2022
Massively parallel reporter assays discover de novo exonic splicing mutants in paralogs of Autism genes
Christy L Rhine, Christopher Neil, Jing Wang, et al.
JNCI Cancer Spectrum
|
June 11, 2025
Increased colorectal and endometrial cancer rates in a genomically ascertained lynch syndrome cohort
Miranda Lg Hallquist, Juliann M Savatt, Kristy Diloreto, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 31, 2022
Frequency of truncating FLCN variants and Birt-Hogg-Dubé-associated phenotypes in a health care system population
Juliann M Savatt, Hermela Shimelis, Andres Moreno-De-Luca, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 30, 2018
"Possibly positive or certainly uncertain?": participants' responses to uncertain diagnostic results from exome sequencing
Debra Skinner, Myra I Roche, Karen E Weck, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
May 6, 2015
Organization and dynamics of the nonhomologous end-joining machinery during DNA double-strand break repair
Dylan A Reid, Sarah Keegan, Alejandra Leo-Macias, et al.
Nature Communications
|
July 4, 2014
The fidelity of the ligation step determines how ends are resolved during nonhomologous end joining
Crystal A Waters, Natasha T Strande, John M Pryor, et al.
American Journal of Medical Genetics. Part A
|
April 30, 2015
The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review
Natario L Couser, Maheer M Masood, Natasha T Strande, et al.
Plos One
|
November 12, 2020
Electronic health record analysis identifies kidney disease as the leading risk factor for hospitalization in confirmed COVID-19 patients
Matthew T Oetjens, Jonathan Z Luo, Alexander Chang, et al.
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Search research articles
Search
Showing results (11-20 of 35) with videos related to
Sort By:
Page
of 4
Medrxiv : the Preprint Server for Health Sciences
|
May 10, 2023
The Phenotypic Spectrum of <i>COL4A3</i> Heterozygotes
Kaushal V Solanki, Yirui Hu, Bryn S Moore, et al.
Prenatal Diagnosis
|
April 11, 2025
Artifacts, Not Differences in Sex Development, Are the Predominant Cause of Phenotypic Sex Discordance With Prenatal Cell-Free DNA Screening: A Review of 33 Cases
Qiliang Ding, Nicole L Hoppman, Erik C Thorland, et al.
Plos Genetics
|
January 20, 2022
Massively parallel reporter assays discover de novo exonic splicing mutants in paralogs of Autism genes
Christy L Rhine, Christopher Neil, Jing Wang, et al.
JNCI Cancer Spectrum
|
June 11, 2025
Increased colorectal and endometrial cancer rates in a genomically ascertained lynch syndrome cohort
Miranda Lg Hallquist, Juliann M Savatt, Kristy Diloreto, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 31, 2022
Frequency of truncating FLCN variants and Birt-Hogg-Dubé-associated phenotypes in a health care system population
Juliann M Savatt, Hermela Shimelis, Andres Moreno-De-Luca, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 30, 2018
"Possibly positive or certainly uncertain?": participants' responses to uncertain diagnostic results from exome sequencing
Debra Skinner, Myra I Roche, Karen E Weck, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
May 6, 2015
Organization and dynamics of the nonhomologous end-joining machinery during DNA double-strand break repair
Dylan A Reid, Sarah Keegan, Alejandra Leo-Macias, et al.
Nature Communications
|
July 4, 2014
The fidelity of the ligation step determines how ends are resolved during nonhomologous end joining
Crystal A Waters, Natasha T Strande, John M Pryor, et al.
American Journal of Medical Genetics. Part A
|
April 30, 2015
The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review
Natario L Couser, Maheer M Masood, Natasha T Strande, et al.
Plos One
|
November 12, 2020
Electronic health record analysis identifies kidney disease as the leading risk factor for hospitalization in confirmed COVID-19 patients
Matthew T Oetjens, Jonathan Z Luo, Alexander Chang, et al.
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of 4