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American Journal of Medical Genetics. Part A
|
March 22, 2021
Patterns of congenital anomalies among individuals with trisomy 13 in Texas
Diego Diaz, Renata H Benjamin, Maria Luisa Navarro Sanchez, et al.
Journal of Neuroimaging : Official Journal of the American Society of Neuroimaging
|
June 21, 2022
Limited utility of structural MRI to identify the epileptogenic zone in young children with tuberous sclerosis
Maaike Nijman, Edward Yang, Camilo Jaimes, et al.
American Journal of Medical Genetics. Part A
|
September 5, 2020
Birth defects that co-occur with non-syndromic gastroschisis and omphalocele
Omobola O Oluwafemi, Renata H Benjamin, Maria Luisa Navarro Sanchez, et al.
Epilepsia
|
November 19, 2025
Convolutional neural networks for automatic tuber segmentation and quantification of tuber burden in tuberous sclerosis complex
Iván Sánchez Fernández, Matheus D Soldatelli, Gillian N Miller, et al.
Investigative Ophthalmology & Visual Science
|
May 27, 2017
A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States
Lori S Sullivan, Sara J Bowne, Daniel C Koboldt, et al.
Annals of the Child Neurology Society
|
December 27, 2024
Preventative treatment of tuberous sclerosis complex with sirolimus: Phase I safety and efficacy results
Jamie K Capal, David M Ritter, David Neal Franz, et al.
Human Molecular Genetics
|
August 13, 2016
Catenin delta-1 (CTNND1) phosphorylation controls the mesenchymal to epithelial transition in astrocytic tumors
Jin Yang, Alexander G Bassuk, Juliane Merl-Pham, et al.
European Journal of Human Genetics : EJHG
|
July 4, 2024
Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes
Noor Smal, Fatma Majdoub, Katrien Janssens, et al.
Pediatric Neurology
|
August 14, 2024
Drug-Resistant Epilepsy in Tuberous Sclerosis Complex Is Associated With TSC2 Genotype: More Findings From the Preventing Epilepsy Using Vigatrin (PREVeNT) Trial
Laura S Farach, Melissa A Richard, Aynara C Wulsin, et al.
Human Mutation
|
April 14, 2025
Targeted Genomic Sequencing of <i>TSC1</i> and <i>TSC2</i> Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal
Hannah D West, Mark Nellist, Rutger W W Brouwer, et al.
Page
of 16
Search research articles
Search
Showing results (131-140 of 157) with videos related to
Sort By:
Page
of 16
American Journal of Medical Genetics. Part A
|
March 22, 2021
Patterns of congenital anomalies among individuals with trisomy 13 in Texas
Diego Diaz, Renata H Benjamin, Maria Luisa Navarro Sanchez, et al.
Journal of Neuroimaging : Official Journal of the American Society of Neuroimaging
|
June 21, 2022
Limited utility of structural MRI to identify the epileptogenic zone in young children with tuberous sclerosis
Maaike Nijman, Edward Yang, Camilo Jaimes, et al.
American Journal of Medical Genetics. Part A
|
September 5, 2020
Birth defects that co-occur with non-syndromic gastroschisis and omphalocele
Omobola O Oluwafemi, Renata H Benjamin, Maria Luisa Navarro Sanchez, et al.
Epilepsia
|
November 19, 2025
Convolutional neural networks for automatic tuber segmentation and quantification of tuber burden in tuberous sclerosis complex
Iván Sánchez Fernández, Matheus D Soldatelli, Gillian N Miller, et al.
Investigative Ophthalmology & Visual Science
|
May 27, 2017
A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States
Lori S Sullivan, Sara J Bowne, Daniel C Koboldt, et al.
Annals of the Child Neurology Society
|
December 27, 2024
Preventative treatment of tuberous sclerosis complex with sirolimus: Phase I safety and efficacy results
Jamie K Capal, David M Ritter, David Neal Franz, et al.
Human Molecular Genetics
|
August 13, 2016
Catenin delta-1 (CTNND1) phosphorylation controls the mesenchymal to epithelial transition in astrocytic tumors
Jin Yang, Alexander G Bassuk, Juliane Merl-Pham, et al.
European Journal of Human Genetics : EJHG
|
July 4, 2024
Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes
Noor Smal, Fatma Majdoub, Katrien Janssens, et al.
Pediatric Neurology
|
August 14, 2024
Drug-Resistant Epilepsy in Tuberous Sclerosis Complex Is Associated With TSC2 Genotype: More Findings From the Preventing Epilepsy Using Vigatrin (PREVeNT) Trial
Laura S Farach, Melissa A Richard, Aynara C Wulsin, et al.
Human Mutation
|
April 14, 2025
Targeted Genomic Sequencing of <i>TSC1</i> and <i>TSC2</i> Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal
Hannah D West, Mark Nellist, Rutger W W Brouwer, et al.
Page
of 16