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Susan A Berry

Showing results (61-70 of 74) with videos related to

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Molecular Genetics and Metabolism|November 28, 2006
Expanded newborn screening identifies maternal primary carnitine deficiencyLisa A Schimmenti, Eric A Crombez, Bernd C Schwahn, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 10, 2015
Outcomes of four patients with homocysteine remethylation disorders detected by newborn screeningDerek Wong, Silvia Tortorelli, Lisa Bishop, et al.
The Journal of Law, Medicine & Ethics : a Journal of the American Society of Law, Medicine & Ethics|October 20, 2015
Returning a Research Participant's Genomic Results to Relatives: Analysis and RecommendationsSusan M Wolf, Rebecca Branum, Barbara A Koenig, et al.
The Journal of Law, Medicine & Ethics : a Journal of the American Society of Law, Medicine & Ethics|July 17, 2018
Pragmatic Tools for Sharing Genomic Research Results with the Relatives of Living and Deceased Research ParticipantsSusan M Wolf, Emily Scholtes, Barbara A Koenig, et al.
Molecular Genetics and Metabolism|June 9, 2016
A framework for assessing outcomes from newborn screening: on the road to measuring its promiseCynthia F Hinton, Charles J Homer, Alexis A Thompson, et al.
Molecular Genetics and Metabolism|July 22, 2019
Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patientsGeorge A Diaz, Andreas Schulze, Nicola Longo, et al.
American Journal of Human Genetics|May 11, 2015
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3Jessica X Chong, Lindsay C Burrage, Anita E Beck, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 19, 2006
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed malesDaniela del Gaudio, Ping Fang, Fernando Scaglia, et al.
Nature Genetics|August 16, 2011
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduriaJennifer L Sloan, Jennifer J Johnston, Irini Manoli, et al.
Pediatrics|May 1, 2022
Health Supervision for Children and Adolescents With Down SyndromeMarilyn J Bull, Tracy Trotter, Stephanie L Santoro, et al.
Pageof 8

Showing results (61-70 of 74) with videos related to

Sort By:
Pageof 8
Molecular Genetics and Metabolism|November 28, 2006
Expanded newborn screening identifies maternal primary carnitine deficiencyLisa A Schimmenti, Eric A Crombez, Bernd C Schwahn, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 10, 2015
Outcomes of four patients with homocysteine remethylation disorders detected by newborn screeningDerek Wong, Silvia Tortorelli, Lisa Bishop, et al.
The Journal of Law, Medicine & Ethics : a Journal of the American Society of Law, Medicine & Ethics|October 20, 2015
Returning a Research Participant's Genomic Results to Relatives: Analysis and RecommendationsSusan M Wolf, Rebecca Branum, Barbara A Koenig, et al.
The Journal of Law, Medicine & Ethics : a Journal of the American Society of Law, Medicine & Ethics|July 17, 2018
Pragmatic Tools for Sharing Genomic Research Results with the Relatives of Living and Deceased Research ParticipantsSusan M Wolf, Emily Scholtes, Barbara A Koenig, et al.
Molecular Genetics and Metabolism|June 9, 2016
A framework for assessing outcomes from newborn screening: on the road to measuring its promiseCynthia F Hinton, Charles J Homer, Alexis A Thompson, et al.
Molecular Genetics and Metabolism|July 22, 2019
Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patientsGeorge A Diaz, Andreas Schulze, Nicola Longo, et al.
American Journal of Human Genetics|May 11, 2015
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3Jessica X Chong, Lindsay C Burrage, Anita E Beck, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 19, 2006
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed malesDaniela del Gaudio, Ping Fang, Fernando Scaglia, et al.
Nature Genetics|August 16, 2011
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduriaJennifer L Sloan, Jennifer J Johnston, Irini Manoli, et al.
Pediatrics|May 1, 2022
Health Supervision for Children and Adolescents With Down SyndromeMarilyn J Bull, Tracy Trotter, Stephanie L Santoro, et al.
Pageof 8