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Frontiers in Cell and Developmental Biology
|
January 10, 2022
Genetic and Mitochondrial Metabolic Analyses of an Atypical Form of Leigh Syndrome
Martine Uittenbogaard, Kuntal Sen, Matthew Whitehead, et al.
American Journal of Medical Genetics. Part A
|
July 14, 2020
49,XXXXY syndrome: A study of neurological function in this uncommon X and Y chromosomal disorder
Carole Samango-Sprouse, Patricia C Lasutschinkow, Francie Mitchell, et al.
American Journal of Medical Genetics. Part A
|
May 12, 2015
Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA)
Yiouli P Ktena, Scott M Paul, Natalie S Hauser, et al.
American Journal of Medical Genetics. Part A
|
March 29, 2020
Neurodevelopmental outcome of prenatally diagnosed boys with 47,XXY (Klinefelter syndrome) and the potential influence of early hormonal therapy
Carole A Samango-Sprouse, Selena L Tran, Patricia C Lasutschinkow, et al.
Neurology. Genetics
|
December 25, 2019
CNS manifestations in patients with telomere biology disorders
Sonia Bhala, Ana F Best, Neelam Giri, et al.
Frontiers in Neuroscience
|
July 10, 2026
Impaired task-dependent cerebral cortex oxygenation in Glut1 deficiency
Kosar Khaksari, Chad Blackshear, Ana Moreno Chaza, et al.
Plos One
|
August 12, 2016
Incidence of X and Y Chromosomal Aneuploidy in a Large Child Bearing Population
Carole Samango-Sprouse, Eser Kırkızlar, Megan P Hall, et al.
Plos Genetics
|
June 17, 2026
Functional profiling of 2,193 ASS1 missense variants: Insights into variant pathogenicity and epistatic interactions in citrullinemia type I
Russell S Lo, Gareth A Cromie, Michelle Tang, et al.
Pediatric Neurology
|
September 8, 2014
Corpus callosum diffusion tensor imaging and volume measures are associated with disease severity in pediatric Niemann-Pick disease type C1
Ryan Lee, Kalyna Apkarian, Eun Sol Jung, et al.
Pediatrics
|
May 23, 2012
Neurocognitive phenotype of isolated methylmalonic acidemia
Colin J O'Shea, Jennifer L Sloan, Edythe A Wiggs, et al.
Page
of 9
Search research articles
Search
Showing results (41-50 of 86) with videos related to
Sort By:
Page
of 9
Frontiers in Cell and Developmental Biology
|
January 10, 2022
Genetic and Mitochondrial Metabolic Analyses of an Atypical Form of Leigh Syndrome
Martine Uittenbogaard, Kuntal Sen, Matthew Whitehead, et al.
American Journal of Medical Genetics. Part A
|
July 14, 2020
49,XXXXY syndrome: A study of neurological function in this uncommon X and Y chromosomal disorder
Carole Samango-Sprouse, Patricia C Lasutschinkow, Francie Mitchell, et al.
American Journal of Medical Genetics. Part A
|
May 12, 2015
Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA)
Yiouli P Ktena, Scott M Paul, Natalie S Hauser, et al.
American Journal of Medical Genetics. Part A
|
March 29, 2020
Neurodevelopmental outcome of prenatally diagnosed boys with 47,XXY (Klinefelter syndrome) and the potential influence of early hormonal therapy
Carole A Samango-Sprouse, Selena L Tran, Patricia C Lasutschinkow, et al.
Neurology. Genetics
|
December 25, 2019
CNS manifestations in patients with telomere biology disorders
Sonia Bhala, Ana F Best, Neelam Giri, et al.
Frontiers in Neuroscience
|
July 10, 2026
Impaired task-dependent cerebral cortex oxygenation in Glut1 deficiency
Kosar Khaksari, Chad Blackshear, Ana Moreno Chaza, et al.
Plos One
|
August 12, 2016
Incidence of X and Y Chromosomal Aneuploidy in a Large Child Bearing Population
Carole Samango-Sprouse, Eser Kırkızlar, Megan P Hall, et al.
Plos Genetics
|
June 17, 2026
Functional profiling of 2,193 ASS1 missense variants: Insights into variant pathogenicity and epistatic interactions in citrullinemia type I
Russell S Lo, Gareth A Cromie, Michelle Tang, et al.
Pediatric Neurology
|
September 8, 2014
Corpus callosum diffusion tensor imaging and volume measures are associated with disease severity in pediatric Niemann-Pick disease type C1
Ryan Lee, Kalyna Apkarian, Eun Sol Jung, et al.
Pediatrics
|
May 23, 2012
Neurocognitive phenotype of isolated methylmalonic acidemia
Colin J O'Shea, Jennifer L Sloan, Edythe A Wiggs, et al.
Page
of 9