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Pediatric Clinics of North America
|
March 6, 2018
Newborn Screening: History, Current Status, and Future Directions
Ayman W El-Hattab, Mohammed Almannai, V Reid Sutton
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
February 9, 2016
Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals
Bret Bostwick, Ping Fang, Ankita Patel, et al.
Clinical Chemistry
|
December 30, 2025
From PKU to Genome Sequencing: The Past, Present, and Future of Newborn Screening
Amber Nakar-Weinstein, Yishay Ben-Moshe, V Reid Sutton
Case Reports in Obstetrics and Gynecology
|
August 1, 2022
Obstetrical Challenges in Robinow Syndrome
Yingao Zhang, Marco Casanova, Matthew Shanahan, et al.
Journal of Child Neurology
|
October 18, 2005
Newborn screening and prenatal diagnosis for Rett syndrome: implications for therapy
Ruthie E Amir, V Reid Sutton, Ignatia B Van den Veyver
Genetics in Medicine Open
|
December 13, 2024
Velmanase alfa approved for treatment of non-central nervous system manifestations of alpha-mannosidosis: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)
Julie M Lander, Monica Penon-Portmann, V Reid Sutton, et al.
Molecular Genetics and Metabolism
|
February 1, 2003
A mouse model of argininosuccinic aciduria: biochemical characterization
V Reid Sutton, Yanzhen Pan, Erica C Davis, et al.
Molecular Genetics and Metabolism
|
September 11, 2017
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels
Yi Jiang, Mohammed Almannai, V Reid Sutton, et al.
Journal of Human Genetics
|
March 18, 2016
Nineteen-year follow-up of a patient with severe glutathione synthetase deficiency
Paldeep S Atwal, Casey R Medina, Lindsay C Burrage, et al.
Clinical Dysmorphology
|
June 7, 2007
Parkes Weber syndrome occurring in a family with capillary malformations
Nicola Brunetti-Pierri, Glen F Seidel, Moise L Levy, et al.
Page
of 19
Search research articles
Search
Showing results (11-20 of 184) with videos related to
Sort By:
Page
of 19
Pediatric Clinics of North America
|
March 6, 2018
Newborn Screening: History, Current Status, and Future Directions
Ayman W El-Hattab, Mohammed Almannai, V Reid Sutton
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
February 9, 2016
Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals
Bret Bostwick, Ping Fang, Ankita Patel, et al.
Clinical Chemistry
|
December 30, 2025
From PKU to Genome Sequencing: The Past, Present, and Future of Newborn Screening
Amber Nakar-Weinstein, Yishay Ben-Moshe, V Reid Sutton
Case Reports in Obstetrics and Gynecology
|
August 1, 2022
Obstetrical Challenges in Robinow Syndrome
Yingao Zhang, Marco Casanova, Matthew Shanahan, et al.
Journal of Child Neurology
|
October 18, 2005
Newborn screening and prenatal diagnosis for Rett syndrome: implications for therapy
Ruthie E Amir, V Reid Sutton, Ignatia B Van den Veyver
Genetics in Medicine Open
|
December 13, 2024
Velmanase alfa approved for treatment of non-central nervous system manifestations of alpha-mannosidosis: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)
Julie M Lander, Monica Penon-Portmann, V Reid Sutton, et al.
Molecular Genetics and Metabolism
|
February 1, 2003
A mouse model of argininosuccinic aciduria: biochemical characterization
V Reid Sutton, Yanzhen Pan, Erica C Davis, et al.
Molecular Genetics and Metabolism
|
September 11, 2017
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels
Yi Jiang, Mohammed Almannai, V Reid Sutton, et al.
Journal of Human Genetics
|
March 18, 2016
Nineteen-year follow-up of a patient with severe glutathione synthetase deficiency
Paldeep S Atwal, Casey R Medina, Lindsay C Burrage, et al.
Clinical Dysmorphology
|
June 7, 2007
Parkes Weber syndrome occurring in a family with capillary malformations
Nicola Brunetti-Pierri, Glen F Seidel, Moise L Levy, et al.
Page
of 19