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M Hiatt

Showing results (111-120 of 152) with videos related to

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Frontiers in Physiology|April 27, 2019
A YWHAZ Variant Associated With Cardiofaciocutaneous Syndrome Activates the RAF-ERK PathwayIvan K Popov, Susan M Hiatt, Sandra Whalen, et al.
Pediatrics|April 1, 1997
Maternal receipt of magnesium sulfate does not seem to reduce the risk of neonatal white matter damageA Leviton, N Paneth, M Susser, et al.
HGG Advances|April 11, 2026
Heterozygous CECR2 Variants Support a Distinct Neurodevelopmental Syndrome with Features Overlapping Cat Eye SyndromeAnushree Acharya, Irma Järvelä, Andrea Hernandez, et al.
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.
AJOB Empirical Bioethics|April 12, 2021
The Therapeutic Odyssey: Positioning Genomic Sequencing in the Search for a Child's Best Possible LifeJanet Elizabeth Childerhose, Carla Rich, Kelly M East, 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.
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.
Pediatric Research|December 14, 1999
Maternal infection, fetal inflammatory response, and brain damage in very low birth weight infants. Developmental Epidemiology Network InvestigatorsA Leviton, N Paneth, M L Reuss, 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.
Pageof 16

Showing results (111-120 of 152) with videos related to

Sort By:
Pageof 16
Frontiers in Physiology|April 27, 2019
A YWHAZ Variant Associated With Cardiofaciocutaneous Syndrome Activates the RAF-ERK PathwayIvan K Popov, Susan M Hiatt, Sandra Whalen, et al.
Pediatrics|April 1, 1997
Maternal receipt of magnesium sulfate does not seem to reduce the risk of neonatal white matter damageA Leviton, N Paneth, M Susser, et al.
HGG Advances|April 11, 2026
Heterozygous CECR2 Variants Support a Distinct Neurodevelopmental Syndrome with Features Overlapping Cat Eye SyndromeAnushree Acharya, Irma Järvelä, Andrea Hernandez, et al.
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.
AJOB Empirical Bioethics|April 12, 2021
The Therapeutic Odyssey: Positioning Genomic Sequencing in the Search for a Child's Best Possible LifeJanet Elizabeth Childerhose, Carla Rich, Kelly M East, 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.
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.
Pediatric Research|December 14, 1999
Maternal infection, fetal inflammatory response, and brain damage in very low birth weight infants. Developmental Epidemiology Network InvestigatorsA Leviton, N Paneth, M L Reuss, 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.
Pageof 16