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Nature Genetics
|
July 21, 2014
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease
Sarah E Flanagan, Emma Haapaniemi, Mark A Russell, et al.
European Journal of Human Genetics : EJHG
|
April 11, 2024
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements
Thomas W Laver, Matthew N Wakeling, Richard C Caswell, et al.
Journal of Alzheimer'S Disease : JAD
|
February 6, 2023
Accumulation of pTau231 at the Postsynaptic Density in Early Alzheimer's Disease
Jaclyn Lilek, Kaouther Ajroud, Alexander Z Feldman, et al.
Human Mutation
|
February 7, 2020
Update of variants identified in the pancreatic β-cell K<sub>ATP</sub> channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes
Elisa De Franco, Cécile Saint-Martin, Klaus Brusgaard, et al.
Journal of Neuropathology and Experimental Neurology
|
January 24, 2023
The status of digital pathology and associated infrastructure within Alzheimer's Disease Centers
Rebeca Scalco, Yamah Hamsafar, Charles L White, et al.
American Journal of Human Genetics
|
April 23, 2019
A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development
Elisa De Franco, Rachel A Watson, Wolfgang J Weninger, et al.
Journal of General Internal Medicine
|
September 25, 2025
Leading Learning Health Systems: Strategies Used to Establish and Conduct a Learning Health System
Dawn M Bravata, Cathy C Schubert, Amy M Kilbourne, et al.
Genome Medicine
|
March 3, 2025
Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity
Jasmin J Bennett, Cécile Saint-Martin, Bianca Neumann, et al.
Nature Genetics
|
November 17, 2023
Primate-specific ZNF808 is essential for pancreatic development in humans
Elisa De Franco, Nick D L Owens, Hossam Montaser, et al.
The Journal of Clinical Endocrinology and Metabolism
|
September 7, 2020
Clinical Characteristics and Long-term Follow-up of Patients with Diabetes Due To PTF1A Enhancer Mutations
Huseyin Demirbilek, Atilla Cayir, Sarah E Flanagan, et al.
Page
of 51
Search research articles
Search
Showing results (461-470 of 508) with videos related to
Sort By:
Page
of 51
Nature Genetics
|
July 21, 2014
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease
Sarah E Flanagan, Emma Haapaniemi, Mark A Russell, et al.
European Journal of Human Genetics : EJHG
|
April 11, 2024
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements
Thomas W Laver, Matthew N Wakeling, Richard C Caswell, et al.
Journal of Alzheimer'S Disease : JAD
|
February 6, 2023
Accumulation of pTau231 at the Postsynaptic Density in Early Alzheimer's Disease
Jaclyn Lilek, Kaouther Ajroud, Alexander Z Feldman, et al.
Human Mutation
|
February 7, 2020
Update of variants identified in the pancreatic β-cell K<sub>ATP</sub> channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes
Elisa De Franco, Cécile Saint-Martin, Klaus Brusgaard, et al.
Journal of Neuropathology and Experimental Neurology
|
January 24, 2023
The status of digital pathology and associated infrastructure within Alzheimer's Disease Centers
Rebeca Scalco, Yamah Hamsafar, Charles L White, et al.
American Journal of Human Genetics
|
April 23, 2019
A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development
Elisa De Franco, Rachel A Watson, Wolfgang J Weninger, et al.
Journal of General Internal Medicine
|
September 25, 2025
Leading Learning Health Systems: Strategies Used to Establish and Conduct a Learning Health System
Dawn M Bravata, Cathy C Schubert, Amy M Kilbourne, et al.
Genome Medicine
|
March 3, 2025
Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity
Jasmin J Bennett, Cécile Saint-Martin, Bianca Neumann, et al.
Nature Genetics
|
November 17, 2023
Primate-specific ZNF808 is essential for pancreatic development in humans
Elisa De Franco, Nick D L Owens, Hossam Montaser, et al.
The Journal of Clinical Endocrinology and Metabolism
|
September 7, 2020
Clinical Characteristics and Long-term Follow-up of Patients with Diabetes Due To PTF1A Enhancer Mutations
Huseyin Demirbilek, Atilla Cayir, Sarah E Flanagan, et al.
Page
of 51