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Molecular Genetics and Metabolism
|
January 13, 2026
Characterization of liver disease in a cohort of individuals with Niemann-Pick Disease, Type C1
Neena Agrawal, Simona Bianconi, Rebecca Jaeger, et al.
American Journal of Medical Genetics. Part A
|
October 18, 2023
Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation
Myriam Abdennadher, Sara K Inati, Samar Rahhal, et al.
Journal of Developmental and Behavioral Pediatrics : JDBP
|
February 20, 2020
Neurodevelopmental Characterization of Young Children Diagnosed with Niemann-Pick Disease, Type C1
Audrey Thurm, Colby Chlebowski, Lisa Joseph, et al.
The Journal of Pediatrics
|
December 24, 2018
Early Indicators of Creatine Transporter Deficiency
Judith S Miller, Rebecca P Thomas, Amanda Bennett, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 12, 2016
A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome
Christopher A Wassif, Lisa Kratz, Susan E Sparks, et al.
NMR in Biomedicine
|
September 29, 2020
Oxidative phosphorylation in creatine transporter deficiency
Shizhe Li, Simona Bianconi, Jan Willem van der Veen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 5, 2022
Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1
Neena Agrawal, Nicole Y Farhat, Ninet Sinaii, et al.
Orphanet Journal of Rare Diseases
|
September 5, 2022
Phenotypic expression of swallowing function in Niemann-Pick disease type C1
Beth I Solomon, Andrea M Muñoz, Ninet Sinaii, et al.
Frontiers in Systems Neuroscience
|
August 23, 2021
The Cerebellar Dopaminergic System
Paolo Flace, Paolo Livrea, Gianpaolo Antonio Basile, et al.
Journal of Neurodevelopmental Disorders
|
April 8, 2016
Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update
Audrey Thurm, Elaine Tierney, Cristan Farmer, et al.
Page
of 4
Search research articles
Search
Showing results (11-20 of 31) with videos related to
Sort By:
Page
of 4
Molecular Genetics and Metabolism
|
January 13, 2026
Characterization of liver disease in a cohort of individuals with Niemann-Pick Disease, Type C1
Neena Agrawal, Simona Bianconi, Rebecca Jaeger, et al.
American Journal of Medical Genetics. Part A
|
October 18, 2023
Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation
Myriam Abdennadher, Sara K Inati, Samar Rahhal, et al.
Journal of Developmental and Behavioral Pediatrics : JDBP
|
February 20, 2020
Neurodevelopmental Characterization of Young Children Diagnosed with Niemann-Pick Disease, Type C1
Audrey Thurm, Colby Chlebowski, Lisa Joseph, et al.
The Journal of Pediatrics
|
December 24, 2018
Early Indicators of Creatine Transporter Deficiency
Judith S Miller, Rebecca P Thomas, Amanda Bennett, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 12, 2016
A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome
Christopher A Wassif, Lisa Kratz, Susan E Sparks, et al.
NMR in Biomedicine
|
September 29, 2020
Oxidative phosphorylation in creatine transporter deficiency
Shizhe Li, Simona Bianconi, Jan Willem van der Veen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 5, 2022
Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1
Neena Agrawal, Nicole Y Farhat, Ninet Sinaii, et al.
Orphanet Journal of Rare Diseases
|
September 5, 2022
Phenotypic expression of swallowing function in Niemann-Pick disease type C1
Beth I Solomon, Andrea M Muñoz, Ninet Sinaii, et al.
Frontiers in Systems Neuroscience
|
August 23, 2021
The Cerebellar Dopaminergic System
Paolo Flace, Paolo Livrea, Gianpaolo Antonio Basile, et al.
Journal of Neurodevelopmental Disorders
|
April 8, 2016
Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update
Audrey Thurm, Elaine Tierney, Cristan Farmer, et al.
Page
of 4