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The Journal of Climate Change and Health
|
June 2, 2025
Eco-anxiety, climate concern, and fatalistic outlooks: Insights from U.S. crisis text conversations on climate distress
Jennifer D Runkle, Kelsey Herbst, Sophie Ryan, et al.
Human Mutation
|
March 14, 2013
Simple detection of germline microsatellite instability for diagnosis of constitutional mismatch repair cancer syndrome
Danielle Ingham, Christine P Diggle, Ian Berry, et al.
Journal of Clinical Immunology
|
April 6, 2019
A Report of Novel STIM1 Deficiency and 6-Year Follow-Up of Two Previous Cases Associated with Mild Immunological Phenotype
Laura Rice, Claire Stockdale, Ian Berry, et al.
Cilia
|
January 29, 2013
Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies
Katarzyna Szymanska, Ian Berry, Clare V Logan, et al.
Atherosclerosis
|
April 23, 2021
Improving the identification of patients with a genetic diagnosis of familial hypercholesterolaemia in primary care: A strategy to achieve the NHS long term plan
Lorna Ingoe, Aimee Potter, Susan Musson, et al.
Clinical Genetics
|
April 10, 2025
Infantile Cerebellar-Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model
Edgar Buhl, Suchika Garg, Marie Monaghan, et al.
Journal of Medical Genetics
|
September 26, 2024
Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access
Sian Ellard, Sian Morgan, Sarah L Wynn, et al.
American Journal of Human Genetics
|
November 3, 2018
Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects
Serge Bonnefoy, Christopher M Watson, Kristin D Kernohan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 15, 2021
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD
Alice Garrett, Chey Loveday, Laura King, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 6, 2025
Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome
Susan Walker, David J Bunyan, Huw B Thomas, et al.
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Showing results (11-20 of 20) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 20 results.
The Journal of Climate Change and Health
|
June 2, 2025
Eco-anxiety, climate concern, and fatalistic outlooks: Insights from U.S. crisis text conversations on climate distress
Jennifer D Runkle, Kelsey Herbst, Sophie Ryan, et al.
Human Mutation
|
March 14, 2013
Simple detection of germline microsatellite instability for diagnosis of constitutional mismatch repair cancer syndrome
Danielle Ingham, Christine P Diggle, Ian Berry, et al.
Journal of Clinical Immunology
|
April 6, 2019
A Report of Novel STIM1 Deficiency and 6-Year Follow-Up of Two Previous Cases Associated with Mild Immunological Phenotype
Laura Rice, Claire Stockdale, Ian Berry, et al.
Cilia
|
January 29, 2013
Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies
Katarzyna Szymanska, Ian Berry, Clare V Logan, et al.
Atherosclerosis
|
April 23, 2021
Improving the identification of patients with a genetic diagnosis of familial hypercholesterolaemia in primary care: A strategy to achieve the NHS long term plan
Lorna Ingoe, Aimee Potter, Susan Musson, et al.
Clinical Genetics
|
April 10, 2025
Infantile Cerebellar-Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model
Edgar Buhl, Suchika Garg, Marie Monaghan, et al.
Journal of Medical Genetics
|
September 26, 2024
Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access
Sian Ellard, Sian Morgan, Sarah L Wynn, et al.
American Journal of Human Genetics
|
November 3, 2018
Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects
Serge Bonnefoy, Christopher M Watson, Kristin D Kernohan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 15, 2021
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD
Alice Garrett, Chey Loveday, Laura King, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 6, 2025
Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome
Susan Walker, David J Bunyan, Huw B Thomas, et al.
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of 2