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Pediatric Blood & Cancer
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March 30, 2005
Medical utilization by immunodeficient, hemophiliac, and HIV positive children during summer camp: evidence for a safe camper experience
Jonathan Bergman, Eimear Kinsella, Janna Kenny, et al.
Clinical Case Reports
|
September 12, 2022
Fontaine progeroid syndrome-A case report
Sinéad Lally, Nicola Walsh, Janna Kenny, et al.
Journal of Genetic Counseling
|
August 29, 2025
Subspecialty neurology genetic counselors-A cost effective solution to substantial time costs associated with genomic testing in the neurology clinic
John Coleman, Patrick Moloney, Claire Giffney, et al.
European Journal of Medical Genetics
|
December 21, 2024
Catalogue of inherited autosomal recessive disorders found amongst the Roma population of Europe
Shauna Quinn, Nicola Walsh, Ioana Streata, et al.
Human Mutation
|
April 14, 2025
The Common <i>PKD1</i> p.(Ile3167Phe) Variant Is Hypomorphic and Associated with Very Early Onset, Biallelic Polycystic Kidney Disease
Miranda Durkie, Christopher M Watson, Peter Winship, et al.
The Lancet. Neurology
|
October 26, 2016
Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series
Natalie S Ryan, Jennifer M Nicholas, Philip S J Weston, et al.
JAMA Neurology
|
February 24, 2016
Clinical Trial Simulations Based on Genetic Stratification and the Natural History of a Functional Outcome Measure in Creutzfeldt-Jakob Disease
Simon Mead, Matthew Burnell, Jessica Lowe, et al.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
|
August 28, 2014
R47H TREM2 variant increases risk of typical early-onset Alzheimer's disease but not of prion or frontotemporal dementia
Catherine F Slattery, Jonathan A Beck, Lorna Harper, et al.
Neurology
|
June 8, 2019
Age at onset in genetic prion disease and the design of preventive clinical trials
Eric Vallabh Minikel, Sonia M Vallabh, Margaret C Orseth, et al.
HGG Advances
|
March 27, 2026
Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder
Lauretta El Hayek, Ashlesha Gogate, Wei-Chen Chen, et al.
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of 2
Search research articles
Search
Showing results (1-10 of 11) with videos related to
Sort By:
Page
of 2
Pediatric Blood & Cancer
|
March 30, 2005
Medical utilization by immunodeficient, hemophiliac, and HIV positive children during summer camp: evidence for a safe camper experience
Jonathan Bergman, Eimear Kinsella, Janna Kenny, et al.
Clinical Case Reports
|
September 12, 2022
Fontaine progeroid syndrome-A case report
Sinéad Lally, Nicola Walsh, Janna Kenny, et al.
Journal of Genetic Counseling
|
August 29, 2025
Subspecialty neurology genetic counselors-A cost effective solution to substantial time costs associated with genomic testing in the neurology clinic
John Coleman, Patrick Moloney, Claire Giffney, et al.
European Journal of Medical Genetics
|
December 21, 2024
Catalogue of inherited autosomal recessive disorders found amongst the Roma population of Europe
Shauna Quinn, Nicola Walsh, Ioana Streata, et al.
Human Mutation
|
April 14, 2025
The Common <i>PKD1</i> p.(Ile3167Phe) Variant Is Hypomorphic and Associated with Very Early Onset, Biallelic Polycystic Kidney Disease
Miranda Durkie, Christopher M Watson, Peter Winship, et al.
The Lancet. Neurology
|
October 26, 2016
Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series
Natalie S Ryan, Jennifer M Nicholas, Philip S J Weston, et al.
JAMA Neurology
|
February 24, 2016
Clinical Trial Simulations Based on Genetic Stratification and the Natural History of a Functional Outcome Measure in Creutzfeldt-Jakob Disease
Simon Mead, Matthew Burnell, Jessica Lowe, et al.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
|
August 28, 2014
R47H TREM2 variant increases risk of typical early-onset Alzheimer's disease but not of prion or frontotemporal dementia
Catherine F Slattery, Jonathan A Beck, Lorna Harper, et al.
Neurology
|
June 8, 2019
Age at onset in genetic prion disease and the design of preventive clinical trials
Eric Vallabh Minikel, Sonia M Vallabh, Margaret C Orseth, et al.
HGG Advances
|
March 27, 2026
Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder
Lauretta El Hayek, Ashlesha Gogate, Wei-Chen Chen, et al.
Page
of 2