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American Journal of Medical Genetics. Part A
|
August 7, 2018
Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance
Kelly L Jones, Erin A McNamara, Mauro Longoni, et al.
Human Genetics
|
January 3, 2021
5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation
Fabiola Quintero-Rivera, Celeste C Eno, Christine Sutanto, et al.
Infection Control and Hospital Epidemiology
|
July 16, 2019
Identification of four patients with colistin-resistant Escherichia coli containing the mobile colistin resistance mcr-1 gene from a single health system in Michigan
Oryan Henig, Laura J Rojas, Michael A Bachman, et al.
Psychiatry Research
|
April 30, 2024
Partial wake therapy and luminotherapy as an adjunct to usual care in hospitalized patients with depression - a pilot study
Balwinder Singh, Simon Kung, Kathleen A Poppe, et al.
International Journal of Neonatal Screening
|
October 19, 2020
Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I
Dawn S Peck, Jean M Lacey, Amy L White, et al.
American Journal of Human Genetics
|
September 24, 2013
Actionable, pathogenic incidental findings in 1,000 participants' exomes
Michael O Dorschner, Laura M Amendola, Emily H Turner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 16, 2017
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases
Loren D M Pena, Yong-Hui Jiang, Kelly Schoch, et al.
American Journal of Medical Genetics. Part A
|
March 23, 2017
22q11.2 deletion syndrome in diverse populations
Paul Kruszka, Yonit A Addissie, Daniel E McGinn, et al.
American Journal of Medical Genetics. Part A
|
September 28, 2020
Rubinstein-Taybi syndrome in diverse populations
Cedrik Tekendo-Ngongang, Babajide Owosela, Nicole Fleischer, et al.
American Journal of Medical Genetics. Part A
|
December 20, 2016
Down syndrome in diverse populations
Paul Kruszka, Antonio R Porras, Andrew K Sobering, et al.
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Search research articles
Search
Showing results (11-20 of 26) with videos related to
Sort By:
Page
of 3
American Journal of Medical Genetics. Part A
|
August 7, 2018
Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance
Kelly L Jones, Erin A McNamara, Mauro Longoni, et al.
Human Genetics
|
January 3, 2021
5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation
Fabiola Quintero-Rivera, Celeste C Eno, Christine Sutanto, et al.
Infection Control and Hospital Epidemiology
|
July 16, 2019
Identification of four patients with colistin-resistant Escherichia coli containing the mobile colistin resistance mcr-1 gene from a single health system in Michigan
Oryan Henig, Laura J Rojas, Michael A Bachman, et al.
Psychiatry Research
|
April 30, 2024
Partial wake therapy and luminotherapy as an adjunct to usual care in hospitalized patients with depression - a pilot study
Balwinder Singh, Simon Kung, Kathleen A Poppe, et al.
International Journal of Neonatal Screening
|
October 19, 2020
Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I
Dawn S Peck, Jean M Lacey, Amy L White, et al.
American Journal of Human Genetics
|
September 24, 2013
Actionable, pathogenic incidental findings in 1,000 participants' exomes
Michael O Dorschner, Laura M Amendola, Emily H Turner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 16, 2017
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases
Loren D M Pena, Yong-Hui Jiang, Kelly Schoch, et al.
American Journal of Medical Genetics. Part A
|
March 23, 2017
22q11.2 deletion syndrome in diverse populations
Paul Kruszka, Yonit A Addissie, Daniel E McGinn, et al.
American Journal of Medical Genetics. Part A
|
September 28, 2020
Rubinstein-Taybi syndrome in diverse populations
Cedrik Tekendo-Ngongang, Babajide Owosela, Nicole Fleischer, et al.
American Journal of Medical Genetics. Part A
|
December 20, 2016
Down syndrome in diverse populations
Paul Kruszka, Antonio R Porras, Andrew K Sobering, et al.
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of 3