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Cold Spring Harbor Molecular Case Studies
|
May 25, 2023
Perinatal-lethal nonimmune fetal hydrops attributed to <i>MECOM</i>-associated bone marrow failure
Camille A Dash, Jill A Madden, Christy Cummings, et al.
Pediatric Neurology
|
September 8, 2016
SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures
Samantha Palmer, Meghan C Towne, Phillip L Pearl, et al.
JIMD Reports
|
November 19, 2016
Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants
Sarah U Morton, Edward G Neilan, Roy W A Peake, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 16, 2025
Implementing customized genomic sequencing reports to empower providers in safety-net Neonatal Intensive Care Units
Alissa M D'Gama, Jessica Douglas, Sonia Hills, et al.
Cold Spring Harbor Molecular Case Studies
|
August 24, 2016
Exome sequencing results in successful diagnosis and treatment of a severe congenital anemia
Jessica N Lacy, Jacob C Ulirsch, Rachael F Grace, et al.
European Journal of Human Genetics : EJHG
|
June 29, 2022
A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene
Boxun Zhao, Jill A Madden, Jasmine Lin, et al.
Frontiers in Physiology
|
July 26, 2018
Pressure Overload in Mice With Haploinsufficiency of Striated Preferentially Expressed Gene Leads to Decompensated Heart Failure
Chang Shu, He Huang, Ying Xu, et al.
Epilepsia
|
April 5, 2013
Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings
Marlin Touma, Mugdha Joshi, Meghan C Connolly, et al.
Nepal Medical College Journal : NMCJ
|
March 26, 2010
Clinical profile and outcome of children presenting with poisoning or intoxication: a hospital based study
S Budhathoki, P Poudel, D Shah, et al.
Biorxiv : the Preprint Server for Biology
|
May 10, 2023
Integrated multi-omics approach reveals the role of SPEG in skeletal muscle biology including its relationship with myospryn complex
Qifei Li, Jasmine Lin, Shiyu Luo, et al.
Page
of 36
Search research articles
Search
Showing results (211-220 of 360) with videos related to
Sort By:
Page
of 36
Cold Spring Harbor Molecular Case Studies
|
May 25, 2023
Perinatal-lethal nonimmune fetal hydrops attributed to <i>MECOM</i>-associated bone marrow failure
Camille A Dash, Jill A Madden, Christy Cummings, et al.
Pediatric Neurology
|
September 8, 2016
SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures
Samantha Palmer, Meghan C Towne, Phillip L Pearl, et al.
JIMD Reports
|
November 19, 2016
Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants
Sarah U Morton, Edward G Neilan, Roy W A Peake, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 16, 2025
Implementing customized genomic sequencing reports to empower providers in safety-net Neonatal Intensive Care Units
Alissa M D'Gama, Jessica Douglas, Sonia Hills, et al.
Cold Spring Harbor Molecular Case Studies
|
August 24, 2016
Exome sequencing results in successful diagnosis and treatment of a severe congenital anemia
Jessica N Lacy, Jacob C Ulirsch, Rachael F Grace, et al.
European Journal of Human Genetics : EJHG
|
June 29, 2022
A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene
Boxun Zhao, Jill A Madden, Jasmine Lin, et al.
Frontiers in Physiology
|
July 26, 2018
Pressure Overload in Mice With Haploinsufficiency of Striated Preferentially Expressed Gene Leads to Decompensated Heart Failure
Chang Shu, He Huang, Ying Xu, et al.
Epilepsia
|
April 5, 2013
Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings
Marlin Touma, Mugdha Joshi, Meghan C Connolly, et al.
Nepal Medical College Journal : NMCJ
|
March 26, 2010
Clinical profile and outcome of children presenting with poisoning or intoxication: a hospital based study
S Budhathoki, P Poudel, D Shah, et al.
Biorxiv : the Preprint Server for Biology
|
May 10, 2023
Integrated multi-omics approach reveals the role of SPEG in skeletal muscle biology including its relationship with myospryn complex
Qifei Li, Jasmine Lin, Shiyu Luo, et al.
Page
of 36