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American Journal of Medical Genetics. Part A
|
April 11, 2020
How a baby with classic galactosemia was nearly missed: When the test succeeds but system fails
Sarah Viall, Amy Calhoun, Nicholas Ah Mew, et al.
International Journal of Neonatal Screening
|
March 27, 2024
Iowa Newborn Screening Program Experience with Hemoglobinopathy Screening over the Last Two Decades and Its Increasing Global Relevance
Ryan Jilek, Jennifer Marcy, Carol Johnson, et al.
American Journal of Medical Genetics. Part A
|
February 19, 2015
Biochemical abnormalities in Pearson syndrome
Beatrice Letizia Crippa, Eyby Leon, Amy Calhoun, et al.
Air Medical Journal
|
March 6, 2022
Metabolic Emergency in Flight
Irene A Hurst, Amy Calhoun, Ryan Mehren, et al.
American Journal of Medical Genetics. Part A
|
October 16, 2023
A novel de novo intragenic duplication in FBN1 associated with early-onset Marfan syndrome in a 16-month-old: A case report and review of the literature
Anthony Piscopo, Taylor Warner, Jaime Nagy, et al.
American Journal of Medical Genetics. Part A
|
March 26, 2014
Phenotype of a patient with contiguous deletion of TBX5 and TBX3: expanding the disease spectrum
Soujanya Bogarapu, Steven B Bleyl, Amy Calhoun, et al.
Molecular Genetics and Metabolism
|
May 11, 2015
Next generation sequencing in endocrine practice
Gregory P Forlenza, Amy Calhoun, Kenneth B Beckman, et al.
Journal of Medical Genetics
|
January 10, 2016
Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf-Hirschhorn syndrome
Karen S Ho, Sarah T South, Amanda Lortz, et al.
American Journal of Medical Genetics. Part A
|
July 21, 2020
The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes?
Dong Li, Rebecca C Ahrens-Nicklas, Janice Baker, et al.
Plos Genetics
|
May 20, 2016
The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer
Anne-Mette Hartung, Jeff Swensen, Inaki E Uriz, et al.
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of 2
Search research articles
Search
Showing results (1-10 of 14) with videos related to
Sort By:
Page
of 2
American Journal of Medical Genetics. Part A
|
April 11, 2020
How a baby with classic galactosemia was nearly missed: When the test succeeds but system fails
Sarah Viall, Amy Calhoun, Nicholas Ah Mew, et al.
International Journal of Neonatal Screening
|
March 27, 2024
Iowa Newborn Screening Program Experience with Hemoglobinopathy Screening over the Last Two Decades and Its Increasing Global Relevance
Ryan Jilek, Jennifer Marcy, Carol Johnson, et al.
American Journal of Medical Genetics. Part A
|
February 19, 2015
Biochemical abnormalities in Pearson syndrome
Beatrice Letizia Crippa, Eyby Leon, Amy Calhoun, et al.
Air Medical Journal
|
March 6, 2022
Metabolic Emergency in Flight
Irene A Hurst, Amy Calhoun, Ryan Mehren, et al.
American Journal of Medical Genetics. Part A
|
October 16, 2023
A novel de novo intragenic duplication in FBN1 associated with early-onset Marfan syndrome in a 16-month-old: A case report and review of the literature
Anthony Piscopo, Taylor Warner, Jaime Nagy, et al.
American Journal of Medical Genetics. Part A
|
March 26, 2014
Phenotype of a patient with contiguous deletion of TBX5 and TBX3: expanding the disease spectrum
Soujanya Bogarapu, Steven B Bleyl, Amy Calhoun, et al.
Molecular Genetics and Metabolism
|
May 11, 2015
Next generation sequencing in endocrine practice
Gregory P Forlenza, Amy Calhoun, Kenneth B Beckman, et al.
Journal of Medical Genetics
|
January 10, 2016
Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf-Hirschhorn syndrome
Karen S Ho, Sarah T South, Amanda Lortz, et al.
American Journal of Medical Genetics. Part A
|
July 21, 2020
The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes?
Dong Li, Rebecca C Ahrens-Nicklas, Janice Baker, et al.
Plos Genetics
|
May 20, 2016
The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer
Anne-Mette Hartung, Jeff Swensen, Inaki E Uriz, et al.
Page
of 2