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Amy E Roberts

Showing results (31-40 of 96) with videos related to

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American Journal of Medical Genetics. Part A|October 10, 2012
The Barth Syndrome Registry: distinguishing disease characteristics and growth data from a longitudinal studyAmy E Roberts, Connie Nixon, Colin G Steward, et al.
The New England Journal of Medicine|April 12, 2008
Shared genetic causes of cardiac hypertrophy in children and adultsHiroyuki Morita, Heidi L Rehm, Andres Menesses, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 7, 2022
Neurologic and neurodevelopmental complications in cardiofaciocutaneous syndrome are associated with genotype: A multinational cohort studyElizabeth I Pierpont, Daniel L Kenney-Jung, Ryan Shanley, et al.
Children (Basel, Switzerland)|February 13, 2021
Clinical Syndromic Phenotypes and the Potential Role of Genetics in Pulmonary Vein StenosisAbbas H Zaidi, Jessica M Yamada, David T Miller, et al.
American Journal of Medical Genetics. Part A|December 4, 2004
The PTPN11 gene is not implicated in nonsyndromic hypertrophic cardiomyopathyAmy E Roberts, Britta Hult, Heidi L Rehm, et al.
Stem Cell Research|January 15, 2019
Generation of an induced pluripotent stem cell line (TRNDi003-A) from a Noonan syndrome with multiple lentigines (NSML) patient carrying a p.Q510P mutation in the PTPN11 geneRong Li, Amanda Baskfield, Yongshun Lin, et al.
Pediatrics|September 30, 2010
Noonan syndrome: clinical features, diagnosis, and management guidelinesAlicia A Romano, Judith E Allanson, Jovanna Dahlgren, et al.
American Journal of Medical Genetics. Part A|October 12, 2023
Epilepsy in cardiofaciocutaneous syndrome: Clinical burden and response to anti-seizure medicationDaniel L Kenney-Jung, Josue E Collazo-Lopez, Dante J Rogers, et al.
Circulation. Genomic and Precision Medicine|March 29, 2019
Phenotypic Characterization of Individuals With Variants in Cardiovascular Genes in the Absence of a Primary Cardiovascular Indication for TestingRobyn J Hylind, Stephanie F Chandler, Virginie Beausejour Ladouceur, et al.
The Journal of Allergy and Clinical Immunology|January 31, 2009
Novel presentation of Omenn syndrome in association with aniridiaWilliam J Sheehan, Ottavia M Delmonte, David T Miller, et al.
Pageof 10

Showing results (31-40 of 96) with videos related to

Sort By:
Pageof 10
American Journal of Medical Genetics. Part A|October 10, 2012
The Barth Syndrome Registry: distinguishing disease characteristics and growth data from a longitudinal studyAmy E Roberts, Connie Nixon, Colin G Steward, et al.
The New England Journal of Medicine|April 12, 2008
Shared genetic causes of cardiac hypertrophy in children and adultsHiroyuki Morita, Heidi L Rehm, Andres Menesses, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 7, 2022
Neurologic and neurodevelopmental complications in cardiofaciocutaneous syndrome are associated with genotype: A multinational cohort studyElizabeth I Pierpont, Daniel L Kenney-Jung, Ryan Shanley, et al.
Children (Basel, Switzerland)|February 13, 2021
Clinical Syndromic Phenotypes and the Potential Role of Genetics in Pulmonary Vein StenosisAbbas H Zaidi, Jessica M Yamada, David T Miller, et al.
American Journal of Medical Genetics. Part A|December 4, 2004
The PTPN11 gene is not implicated in nonsyndromic hypertrophic cardiomyopathyAmy E Roberts, Britta Hult, Heidi L Rehm, et al.
Stem Cell Research|January 15, 2019
Generation of an induced pluripotent stem cell line (TRNDi003-A) from a Noonan syndrome with multiple lentigines (NSML) patient carrying a p.Q510P mutation in the PTPN11 geneRong Li, Amanda Baskfield, Yongshun Lin, et al.
Pediatrics|September 30, 2010
Noonan syndrome: clinical features, diagnosis, and management guidelinesAlicia A Romano, Judith E Allanson, Jovanna Dahlgren, et al.
American Journal of Medical Genetics. Part A|October 12, 2023
Epilepsy in cardiofaciocutaneous syndrome: Clinical burden and response to anti-seizure medicationDaniel L Kenney-Jung, Josue E Collazo-Lopez, Dante J Rogers, et al.
Circulation. Genomic and Precision Medicine|March 29, 2019
Phenotypic Characterization of Individuals With Variants in Cardiovascular Genes in the Absence of a Primary Cardiovascular Indication for TestingRobyn J Hylind, Stephanie F Chandler, Virginie Beausejour Ladouceur, et al.
The Journal of Allergy and Clinical Immunology|January 31, 2009
Novel presentation of Omenn syndrome in association with aniridiaWilliam J Sheehan, Ottavia M Delmonte, David T Miller, et al.
Pageof 10