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Eyby Leon

Showing results (11-20 of 30) with videos related to

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American Journal of Medical Genetics. Part A|November 7, 2019
Extending the phenotypic spectrum of Bohring-Opitz syndrome: Mild case confirmed by functional studiesEyby Leon, Jullianne Diaz, Laura Castilla-Vallmanya, et al.
American Journal of Medical Genetics. Part A|February 19, 2015
Biochemical abnormalities in Pearson syndromeBeatrice Letizia Crippa, Eyby Leon, Amy Calhoun, et al.
American Journal of Medical Genetics. Part A|April 23, 2015
Concurrent diagnoses of Prader-Willi syndrome and GM2 gangliosidosis caused by uniparental disomy of chromosome 15Debra S Regier, Eyby Leon, Debra R Counts, et al.
Neurology|August 14, 2023
Pearls & Oy-sters: Delayed Response to Pyridoxine in Pyridoxine-Dependent EpilepsyOlivier Fortin, Kelsey Christoffel, Youssef Kousa, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|January 11, 2021
Pediatric medical genetics house call: Telemedicine for the next generation of patients and providersAndrea J Cohen, Natasha Shur, Danielle Starin, et al.
American Journal of Medical Genetics. Part A|January 18, 2018
Intellectual disability and epilepsy due to the K/L-mediated Xq28 duplication: Further evidence of a distinct, dosage-dependent phenotypeDavid Isum Ward, Bethany A Buckley, Eyby Leon, et al.
American Journal of Medical Genetics. Part A|November 22, 2013
Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicismJennifer J Johnston, Julie C Sapp, Cynthia Curry, et al.
European Journal of Medical Genetics|May 31, 2020
Unique skeletal manifestations in patients with Primrose syndromeVeronica Arora, Eyby Leon, Jullianne Diaz, et al.
American Journal of Medical Genetics. Part A|July 8, 2022
Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestryCharles J Billington, Kimberly A Chapman, Eyby Leon, et al.
Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society|June 11, 2022
Domino liver transplantation: Expanding the liver donor pool to the pediatric recipientUdeme D Ekong, Sahithi Reddy, Nada Yazigi, et al.
Pageof 3

Showing results (11-20 of 30) with videos related to

Sort By:
Pageof 3
American Journal of Medical Genetics. Part A|November 7, 2019
Extending the phenotypic spectrum of Bohring-Opitz syndrome: Mild case confirmed by functional studiesEyby Leon, Jullianne Diaz, Laura Castilla-Vallmanya, et al.
American Journal of Medical Genetics. Part A|February 19, 2015
Biochemical abnormalities in Pearson syndromeBeatrice Letizia Crippa, Eyby Leon, Amy Calhoun, et al.
American Journal of Medical Genetics. Part A|April 23, 2015
Concurrent diagnoses of Prader-Willi syndrome and GM2 gangliosidosis caused by uniparental disomy of chromosome 15Debra S Regier, Eyby Leon, Debra R Counts, et al.
Neurology|August 14, 2023
Pearls & Oy-sters: Delayed Response to Pyridoxine in Pyridoxine-Dependent EpilepsyOlivier Fortin, Kelsey Christoffel, Youssef Kousa, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|January 11, 2021
Pediatric medical genetics house call: Telemedicine for the next generation of patients and providersAndrea J Cohen, Natasha Shur, Danielle Starin, et al.
American Journal of Medical Genetics. Part A|January 18, 2018
Intellectual disability and epilepsy due to the K/L-mediated Xq28 duplication: Further evidence of a distinct, dosage-dependent phenotypeDavid Isum Ward, Bethany A Buckley, Eyby Leon, et al.
American Journal of Medical Genetics. Part A|November 22, 2013
Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicismJennifer J Johnston, Julie C Sapp, Cynthia Curry, et al.
European Journal of Medical Genetics|May 31, 2020
Unique skeletal manifestations in patients with Primrose syndromeVeronica Arora, Eyby Leon, Jullianne Diaz, et al.
American Journal of Medical Genetics. Part A|July 8, 2022
Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestryCharles J Billington, Kimberly A Chapman, Eyby Leon, et al.
Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society|June 11, 2022
Domino liver transplantation: Expanding the liver donor pool to the pediatric recipientUdeme D Ekong, Sahithi Reddy, Nada Yazigi, et al.
Pageof 3