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E Martina Bebin

Showing results (61-70 of 88) with videos related to

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HGG Advances|May 3, 2021
Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disordersSusan M Hiatt, James M J Lawlor, Lori H Handley, et al.
Lancet (London, England)|November 20, 2012
Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trialDavid Neal Franz, Elena Belousova, Steven Sparagana, 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 sclerosisMaaike Nijman, Edward Yang, Camilo Jaimes, et al.
Neurology. Genetics|November 11, 2016
Germline and somatic mutations in the <i>MTOR</i> gene in focal cortical dysplasia and epilepsyRikke S Møller, Sarah Weckhuysen, Mathilde Chipaux, et al.
American Journal of Human Genetics|March 19, 2019
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental DisorderSusan M Hiatt, Michelle L Thompson, Jeremy W Prokop, et al.
Biorxiv : the Preprint Server for Biology|January 30, 2023
Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testingStephanie A Felker, James Mj Lawlor, Susan M Hiatt, et al.
Annals of the Child Neurology Society|December 27, 2024
Preventative treatment of tuberous sclerosis complex with sirolimus: Phase I safety and efficacy resultsJamie K Capal, David M Ritter, David Neal Franz, et al.
Genome Research|September 19, 2024
Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disordersSusan M Hiatt, James M J Lawlor, Lori H Handley, et al.
Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disordersSusan M Hiatt, James M J Lawlor, Lori H Handley, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 10, 2023
Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testingStephanie A Felker, James M J Lawlor, Susan M Hiatt, et al.
Pageof 9

Showing results (61-70 of 88) with videos related to

Sort By:
Pageof 9
HGG Advances|May 3, 2021
Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disordersSusan M Hiatt, James M J Lawlor, Lori H Handley, et al.
Lancet (London, England)|November 20, 2012
Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trialDavid Neal Franz, Elena Belousova, Steven Sparagana, 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 sclerosisMaaike Nijman, Edward Yang, Camilo Jaimes, et al.
Neurology. Genetics|November 11, 2016
Germline and somatic mutations in the <i>MTOR</i> gene in focal cortical dysplasia and epilepsyRikke S Møller, Sarah Weckhuysen, Mathilde Chipaux, et al.
American Journal of Human Genetics|March 19, 2019
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental DisorderSusan M Hiatt, Michelle L Thompson, Jeremy W Prokop, et al.
Biorxiv : the Preprint Server for Biology|January 30, 2023
Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testingStephanie A Felker, James Mj Lawlor, Susan M Hiatt, et al.
Annals of the Child Neurology Society|December 27, 2024
Preventative treatment of tuberous sclerosis complex with sirolimus: Phase I safety and efficacy resultsJamie K Capal, David M Ritter, David Neal Franz, et al.
Genome Research|September 19, 2024
Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disordersSusan M Hiatt, James M J Lawlor, Lori H Handley, et al.
Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disordersSusan M Hiatt, James M J Lawlor, Lori H Handley, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 10, 2023
Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testingStephanie A Felker, James M J Lawlor, Susan M Hiatt, et al.
Pageof 9