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F1000Research
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July 1, 2017
Case Report: Novel mutations in <i>TBC1D24</i> are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability
Erika Banuelos, Keri Ramsey, Newell Belnap, et al.
Human Genetics
|
November 22, 2019
Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD)
Lorida Llaci, Keri Ramsey, Newell Belnap, et al.
Research Square
|
September 5, 2025
The Curious Case of a Heterozygous Loss-of-Function PSEN1 variant associated with Early-Onset Alzheimer's Disease
Inmaculada Sanjuan Ruiz, Lutgarde Serneels, Katleen Craessaerts, et al.
American Journal of Human Genetics
|
February 24, 2009
A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis
Isabelle Schrauwen, Megan Ealy, Matthew J Huentelman, et al.
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing
|
January 17, 2015
An integrated framework for reporting clinically relevant biomarkers from paired tumor/normal genomic and transcriptomic sequencing data in support of clinical trials in personalized medicine
Sara Nasser, Ahmet A Kurdolgu, Tyler Izatt, et al.
Molecular Neurodegeneration Advances
|
October 23, 2025
The curious case of a heterozygous loss-of-function <i>PSEN1</i> variant associated with early-onset Alzheimer's disease
Inmaculada Sanjuan-Ruiz, Lutgarde Serneels, Katleen Craessaerts, et al.
Rare Diseases (Austin, Tex.)
|
March 5, 2016
Loss of the tumor suppressor SMARCA4 in small cell carcinoma of the ovary, hypercalcemic type (SCCOHT)
Pilar Ramos, Anthony N Karnezis, William P D Hendricks, et al.
Neoplasia (New York, N.Y.)
|
November 7, 2025
Age-diet interactions significantly influence intratumoral gene expression, gut microbiome signature and tumor microenvironment in colorectal cancer
Shivani Soni, Pooja Mittal, Jae Ho Lo, et al.
Cold Spring Harbor Molecular Case Studies
|
September 15, 2016
A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia
Abby M Moskowitz, Newell Belnap, Ashley L Siniard, et al.
Plos One
|
February 8, 2014
Whole genome analyses of a well-differentiated liposarcoma reveals novel SYT1 and DDR2 rearrangements
Jan B Egan, Michael T Barrett, Mia D Champion, et al.
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of 17
Search research articles
Search
Showing results (91-100 of 161) with videos related to
Sort By:
Page
of 17
F1000Research
|
July 1, 2017
Case Report: Novel mutations in <i>TBC1D24</i> are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability
Erika Banuelos, Keri Ramsey, Newell Belnap, et al.
Human Genetics
|
November 22, 2019
Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD)
Lorida Llaci, Keri Ramsey, Newell Belnap, et al.
Research Square
|
September 5, 2025
The Curious Case of a Heterozygous Loss-of-Function PSEN1 variant associated with Early-Onset Alzheimer's Disease
Inmaculada Sanjuan Ruiz, Lutgarde Serneels, Katleen Craessaerts, et al.
American Journal of Human Genetics
|
February 24, 2009
A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis
Isabelle Schrauwen, Megan Ealy, Matthew J Huentelman, et al.
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing
|
January 17, 2015
An integrated framework for reporting clinically relevant biomarkers from paired tumor/normal genomic and transcriptomic sequencing data in support of clinical trials in personalized medicine
Sara Nasser, Ahmet A Kurdolgu, Tyler Izatt, et al.
Molecular Neurodegeneration Advances
|
October 23, 2025
The curious case of a heterozygous loss-of-function <i>PSEN1</i> variant associated with early-onset Alzheimer's disease
Inmaculada Sanjuan-Ruiz, Lutgarde Serneels, Katleen Craessaerts, et al.
Rare Diseases (Austin, Tex.)
|
March 5, 2016
Loss of the tumor suppressor SMARCA4 in small cell carcinoma of the ovary, hypercalcemic type (SCCOHT)
Pilar Ramos, Anthony N Karnezis, William P D Hendricks, et al.
Neoplasia (New York, N.Y.)
|
November 7, 2025
Age-diet interactions significantly influence intratumoral gene expression, gut microbiome signature and tumor microenvironment in colorectal cancer
Shivani Soni, Pooja Mittal, Jae Ho Lo, et al.
Cold Spring Harbor Molecular Case Studies
|
September 15, 2016
A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia
Abby M Moskowitz, Newell Belnap, Ashley L Siniard, et al.
Plos One
|
February 8, 2014
Whole genome analyses of a well-differentiated liposarcoma reveals novel SYT1 and DDR2 rearrangements
Jan B Egan, Michael T Barrett, Mia D Champion, et al.
Page
of 17