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American Journal of Medical Genetics. Part A
|
December 15, 2019
Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome
Angela E Lin, Abdulrazak Alali, Lois J Starr, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
January 12, 2019
"Donating our bodies to science": A discussion about autopsy and organ donation in Turner syndrome
Siddharth K Prakash, Adrianna K San Roman, Melissa Crenshaw, et al.
The Journal of Pediatrics
|
March 1, 2023
Trends in Delayed Diagnosis of Critical Congenital Heart Defects in an Era of Enhanced Screening, 2004-2018
Rebecca F Liberman, Dominique Heinke, Angela E Lin, et al.
American Journal of Medical Genetics. Part A
|
January 8, 2005
Myocardial storage of chondroitin sulfate-containing moieties in Costello syndrome patients with severe hypertrophic cardiomyopathy
Aleksander Hinek, Michael A Teitell, Lisa Schoyer, et al.
Cardiology in the Young
|
June 5, 2019
Potential risk factors for Ebstein anomaly, National Birth Defects Prevention Study, 1997-2011
Karrie F Downing, Tiffany Riehle-Colarusso, Suzanne M Gilboa, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
January 11, 2025
Revisiting the Neuropsychological and Clinical Profile of Mosaic Turner Syndrome With a Ring X Chromosome
Marisa E Cicione, Ashley W Wong, Eloise Aragon, et al.
Research in Developmental Disabilities
|
July 30, 2013
Racial/ethnic differences in hospital use and cost among a statewide population of children with Down syndrome
Taletha Mae Derrington, Milton Kotelchuck, Katrina Plummer, et al.
Birth Defects Research
|
December 2, 2022
Maternal exposure to heparin products and risk of birth defects in the National Birth Defects Prevention Study
Meredith M Howley, Sarah C Fisher, Alissa R Van Zutphen, et al.
American Journal of Medical Genetics. Part A
|
February 12, 2009
Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism
Katia Sol-Church, Deborah L Stabley, Laurie A Demmer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 22, 2018
45,X mosaicism in a population-based biobank: implications for Turner syndrome
Siddharth K Prakash, Melissa L Crenshaw, Philippe F Backeljauw, et al.
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of 17
Search research articles
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Showing results (61-70 of 170) with videos related to
Sort By:
Page
of 17
American Journal of Medical Genetics. Part A
|
December 15, 2019
Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome
Angela E Lin, Abdulrazak Alali, Lois J Starr, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
January 12, 2019
"Donating our bodies to science": A discussion about autopsy and organ donation in Turner syndrome
Siddharth K Prakash, Adrianna K San Roman, Melissa Crenshaw, et al.
The Journal of Pediatrics
|
March 1, 2023
Trends in Delayed Diagnosis of Critical Congenital Heart Defects in an Era of Enhanced Screening, 2004-2018
Rebecca F Liberman, Dominique Heinke, Angela E Lin, et al.
American Journal of Medical Genetics. Part A
|
January 8, 2005
Myocardial storage of chondroitin sulfate-containing moieties in Costello syndrome patients with severe hypertrophic cardiomyopathy
Aleksander Hinek, Michael A Teitell, Lisa Schoyer, et al.
Cardiology in the Young
|
June 5, 2019
Potential risk factors for Ebstein anomaly, National Birth Defects Prevention Study, 1997-2011
Karrie F Downing, Tiffany Riehle-Colarusso, Suzanne M Gilboa, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
January 11, 2025
Revisiting the Neuropsychological and Clinical Profile of Mosaic Turner Syndrome With a Ring X Chromosome
Marisa E Cicione, Ashley W Wong, Eloise Aragon, et al.
Research in Developmental Disabilities
|
July 30, 2013
Racial/ethnic differences in hospital use and cost among a statewide population of children with Down syndrome
Taletha Mae Derrington, Milton Kotelchuck, Katrina Plummer, et al.
Birth Defects Research
|
December 2, 2022
Maternal exposure to heparin products and risk of birth defects in the National Birth Defects Prevention Study
Meredith M Howley, Sarah C Fisher, Alissa R Van Zutphen, et al.
American Journal of Medical Genetics. Part A
|
February 12, 2009
Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism
Katia Sol-Church, Deborah L Stabley, Laurie A Demmer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 22, 2018
45,X mosaicism in a population-based biobank: implications for Turner syndrome
Siddharth K Prakash, Melissa L Crenshaw, Philippe F Backeljauw, et al.
Page
of 17