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BMC Neurology
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May 19, 2026
Early neurodevelopmental outcomes in a child with tuberous sclerosis complex treated with everolimus and vigabatrin
Sarah Ml Wilson, Megan Samuels, Luana Pimentel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 16, 2026
Exome Sequencing Identifies Additional Pathogenic Variants in Neurodevelopmental Genes in 3.6% of Individuals with Tuberous Sclerosis Complex
Laura S Farach, Costin Leu, Dennis Lal, et al.
JAMA Dermatology
|
May 26, 2018
Efficacy and Safety of Topical Rapamycin in Patients With Facial Angiofibromas Secondary to Tuberous Sclerosis Complex: The TREATMENT Randomized Clinical Trial
Mary Kay Koenig, Cynthia S Bell, Adelaide A Hebert, et al.
Medrxiv : the Preprint Server for Health Sciences
|
June 30, 2025
Focal Adhesion Kinase Variants May Contribute to Risk of Human Myelomeningocele
Lydia Youmans, Charani Kamath, Sara Mansoorshahi, et al.
Molecular Genetics & Genomic Medicine
|
September 22, 2020
Identification of novel candidate risk genes for myelomeningocele within the glucose homeostasis/oxidative stress and folate/one-carbon metabolism networks
Paul Hillman, Craig Baker, Luke Hebert, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 11, 2013
Self-reported reproductive health in women with tuberous sclerosis complex
Emily K Gabitzsch, Syed S Hashmi, Mary Kay Koenig, et al.
Plos One
|
December 11, 2012
Folate metabolism gene 5,10-methylenetetrahydrofolate reductase (MTHFR) is associated with ADHD in myelomeningocele patients
Catherine J Spellicy, Hope Northrup, Jack M Fletcher, et al.
Pediatric Neurology
|
October 27, 2015
Clinical Electroencephalographic Biomarker for Impending Epilepsy in Asymptomatic Tuberous Sclerosis Complex Infants
Joyce Y Wu, Jurriaan M Peters, Monisha Goyal, et al.
Plos One
|
September 24, 2020
Burden of rare deleterious variants in WNT signaling genes among 511 myelomeningocele patients
Luke Hebert, Paul Hillman, Craig Baker, et al.
Mitochondrion
|
March 19, 2021
Hypoglycemia in mitochondrial disorders
Myla Ashfaq, Allison R Moats, Hope Northrup, et al.
Page
of 16
Search research articles
Search
Showing results (61-70 of 157) with videos related to
Sort By:
Page
of 16
BMC Neurology
|
May 19, 2026
Early neurodevelopmental outcomes in a child with tuberous sclerosis complex treated with everolimus and vigabatrin
Sarah Ml Wilson, Megan Samuels, Luana Pimentel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 16, 2026
Exome Sequencing Identifies Additional Pathogenic Variants in Neurodevelopmental Genes in 3.6% of Individuals with Tuberous Sclerosis Complex
Laura S Farach, Costin Leu, Dennis Lal, et al.
JAMA Dermatology
|
May 26, 2018
Efficacy and Safety of Topical Rapamycin in Patients With Facial Angiofibromas Secondary to Tuberous Sclerosis Complex: The TREATMENT Randomized Clinical Trial
Mary Kay Koenig, Cynthia S Bell, Adelaide A Hebert, et al.
Medrxiv : the Preprint Server for Health Sciences
|
June 30, 2025
Focal Adhesion Kinase Variants May Contribute to Risk of Human Myelomeningocele
Lydia Youmans, Charani Kamath, Sara Mansoorshahi, et al.
Molecular Genetics & Genomic Medicine
|
September 22, 2020
Identification of novel candidate risk genes for myelomeningocele within the glucose homeostasis/oxidative stress and folate/one-carbon metabolism networks
Paul Hillman, Craig Baker, Luke Hebert, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 11, 2013
Self-reported reproductive health in women with tuberous sclerosis complex
Emily K Gabitzsch, Syed S Hashmi, Mary Kay Koenig, et al.
Plos One
|
December 11, 2012
Folate metabolism gene 5,10-methylenetetrahydrofolate reductase (MTHFR) is associated with ADHD in myelomeningocele patients
Catherine J Spellicy, Hope Northrup, Jack M Fletcher, et al.
Pediatric Neurology
|
October 27, 2015
Clinical Electroencephalographic Biomarker for Impending Epilepsy in Asymptomatic Tuberous Sclerosis Complex Infants
Joyce Y Wu, Jurriaan M Peters, Monisha Goyal, et al.
Plos One
|
September 24, 2020
Burden of rare deleterious variants in WNT signaling genes among 511 myelomeningocele patients
Luke Hebert, Paul Hillman, Craig Baker, et al.
Mitochondrion
|
March 19, 2021
Hypoglycemia in mitochondrial disorders
Myla Ashfaq, Allison R Moats, Hope Northrup, et al.
Page
of 16