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Molecular Genetics and Metabolism Reports
|
September 23, 2024
Treating the whole patient: Facilitating health care for patients facing health inequity
Amarilis Sanchez-Valle, Corey Hicks
American Journal of Medical Genetics. Part A
|
January 29, 2011
The severe end of the spectrum: Hypoplastic left heart in Potocki-Lupski syndrome
Amarilis Sanchez-Valle, Mary Ella Pierpont, Lorraine Potocki
Pharmacogenomics
|
December 7, 2018
Prolonged clonazepam-induced withdrawal symptoms in an NAT2 ultraslow acetylator
Teresa T Ho, Sheeba Varghese Gupta, Amarilis Sanchez-Valle
Pediatrics
|
February 26, 2021
<i>PIGA</i> Mutations Can Mimic Neonatal Hemochromatosis
Jaime Flores-Torres, Jane D Carver, Amarilis Sanchez-Valle
International Journal of Dermatology
|
November 23, 2013
Dyschromatosis symmetrica hereditaria by ADAR1 mutations and viral encephalitis: a hidden link?
Michihiro Kono, Masashi Akiyama, Mutsumi Suganuma, et al.
Journal of Medical Case Reports
|
February 4, 2016
A novel mutation in GLUD1 causing hyperinsulinism-hyperammonemia in a patient with high density of homozygosity on microarray: a case report
John Odom, Maria Gieron-Korthals, Dorothy Shulman, et al.
Advances in Pediatrics
|
July 10, 2017
Biliary Atresia: Epidemiology, Genetics, Clinical Update, and Public Health Perspective
Amarilis Sanchez-Valle, Noor Kassira, Veronica C Varela, et al.
Cytogenetic and Genome Research
|
November 9, 2016
Constitutional Chromoanagenesis of Distal 13q in a Young Adult with Recurrent Strokes
Rachel D Burnside, April Harris, Darrow Speyer, et al.
Advances in Pediatrics
|
July 8, 2023
Lower Urinary Tract Obstruction in Newborns
Jaime Flores-Torres, Amarilis Sanchez-Valle, Jose R Duncan, et al.
JIMD Reports
|
February 20, 2026
Pegvaliase Treatment for Adolescents With Phenylketonuria: A Multi-Site Study
Suzanne Hollander, Briana Valli, Erika Vucko, et al.
Page
of 3
Search research articles
Search
Showing results (1-10 of 30) with videos related to
Sort By:
Page
of 3
Molecular Genetics and Metabolism Reports
|
September 23, 2024
Treating the whole patient: Facilitating health care for patients facing health inequity
Amarilis Sanchez-Valle, Corey Hicks
American Journal of Medical Genetics. Part A
|
January 29, 2011
The severe end of the spectrum: Hypoplastic left heart in Potocki-Lupski syndrome
Amarilis Sanchez-Valle, Mary Ella Pierpont, Lorraine Potocki
Pharmacogenomics
|
December 7, 2018
Prolonged clonazepam-induced withdrawal symptoms in an NAT2 ultraslow acetylator
Teresa T Ho, Sheeba Varghese Gupta, Amarilis Sanchez-Valle
Pediatrics
|
February 26, 2021
<i>PIGA</i> Mutations Can Mimic Neonatal Hemochromatosis
Jaime Flores-Torres, Jane D Carver, Amarilis Sanchez-Valle
International Journal of Dermatology
|
November 23, 2013
Dyschromatosis symmetrica hereditaria by ADAR1 mutations and viral encephalitis: a hidden link?
Michihiro Kono, Masashi Akiyama, Mutsumi Suganuma, et al.
Journal of Medical Case Reports
|
February 4, 2016
A novel mutation in GLUD1 causing hyperinsulinism-hyperammonemia in a patient with high density of homozygosity on microarray: a case report
John Odom, Maria Gieron-Korthals, Dorothy Shulman, et al.
Advances in Pediatrics
|
July 10, 2017
Biliary Atresia: Epidemiology, Genetics, Clinical Update, and Public Health Perspective
Amarilis Sanchez-Valle, Noor Kassira, Veronica C Varela, et al.
Cytogenetic and Genome Research
|
November 9, 2016
Constitutional Chromoanagenesis of Distal 13q in a Young Adult with Recurrent Strokes
Rachel D Burnside, April Harris, Darrow Speyer, et al.
Advances in Pediatrics
|
July 8, 2023
Lower Urinary Tract Obstruction in Newborns
Jaime Flores-Torres, Amarilis Sanchez-Valle, Jose R Duncan, et al.
JIMD Reports
|
February 20, 2026
Pegvaliase Treatment for Adolescents With Phenylketonuria: A Multi-Site Study
Suzanne Hollander, Briana Valli, Erika Vucko, et al.
Page
of 3