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Public Health Genomics
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November 10, 2024
Variation Exists in Service Delivery: Similarities and Differences in the Provision of a Whole Genome Sequencing Service for Paediatric Rare Disease Patients in the National Health Service in England
Nastazja Monika Laskowski, Angus Clarke, Christine Patch, et al.
European Journal of Human Genetics : EJHG
|
September 16, 2004
Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls
Julie C Evans, Hayley L Archer, Sharon D Whatley, et al.
Journal of Evaluation in Clinical Practice
|
June 19, 2010
Preferences for communication in clinic from deaf people: a cross-sectional study
Anna Middleton, Graham H Turner, Maria Bitner-Glindzicz, et al.
Frontiers in Genetics
|
January 19, 2024
"A very big challenge": a qualitative study to explore the early barriers and enablers to implementing a national genomic medicine service in England
Bettina Friedrich, Cecilia Vindrola-Padros, Anneke M Lucassen, et al.
Journal of Applied Research in Intellectual Disabilities : JARID
|
February 22, 2024
A holistic approach to fragile X syndrome integrated guidance for person-centred care
Kirsten Johnson, Andrew C Stanfield, Gaia Scerif, et al.
Journal of Neurodevelopmental Disorders
|
March 10, 2015
A national survey of Rett syndrome: behavioural characteristics
Rina Cianfaglione, Angus Clarke, Michael Kerr, et al.
Journal of Community Genetics
|
May 27, 2019
Co-creating a knowledge base in the "22q11.2 deletion syndrome" community
Roberta Rizzo, Marianne Van den Bree, Aimee Challenger, et al.
European Journal of Human Genetics : EJHG
|
October 13, 2017
22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium
Sheharyar S Baig, Mark Strong, Elisabeth Rosser, et al.
Seizure
|
July 19, 2011
Epilepsy in Rett syndrome: association between phenotype and genotype, and implications for practice
Basil Cardoza, Angus Clarke, Jodie Wilcox, et al.
Health Communication
|
March 26, 2025
Communicating Genetic Information in Families with Inherited Late-Onset Neurodegenerative Diseases: A Scoping Review
Sofia Fontoura Dias, Maria Barbosa, Filipa Júlio, et al.
Page
of 12
Search research articles
Search
Showing results (61-70 of 111) with videos related to
Sort By:
Page
of 12
Public Health Genomics
|
November 10, 2024
Variation Exists in Service Delivery: Similarities and Differences in the Provision of a Whole Genome Sequencing Service for Paediatric Rare Disease Patients in the National Health Service in England
Nastazja Monika Laskowski, Angus Clarke, Christine Patch, et al.
European Journal of Human Genetics : EJHG
|
September 16, 2004
Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls
Julie C Evans, Hayley L Archer, Sharon D Whatley, et al.
Journal of Evaluation in Clinical Practice
|
June 19, 2010
Preferences for communication in clinic from deaf people: a cross-sectional study
Anna Middleton, Graham H Turner, Maria Bitner-Glindzicz, et al.
Frontiers in Genetics
|
January 19, 2024
"A very big challenge": a qualitative study to explore the early barriers and enablers to implementing a national genomic medicine service in England
Bettina Friedrich, Cecilia Vindrola-Padros, Anneke M Lucassen, et al.
Journal of Applied Research in Intellectual Disabilities : JARID
|
February 22, 2024
A holistic approach to fragile X syndrome integrated guidance for person-centred care
Kirsten Johnson, Andrew C Stanfield, Gaia Scerif, et al.
Journal of Neurodevelopmental Disorders
|
March 10, 2015
A national survey of Rett syndrome: behavioural characteristics
Rina Cianfaglione, Angus Clarke, Michael Kerr, et al.
Journal of Community Genetics
|
May 27, 2019
Co-creating a knowledge base in the "22q11.2 deletion syndrome" community
Roberta Rizzo, Marianne Van den Bree, Aimee Challenger, et al.
European Journal of Human Genetics : EJHG
|
October 13, 2017
22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium
Sheharyar S Baig, Mark Strong, Elisabeth Rosser, et al.
Seizure
|
July 19, 2011
Epilepsy in Rett syndrome: association between phenotype and genotype, and implications for practice
Basil Cardoza, Angus Clarke, Jodie Wilcox, et al.
Health Communication
|
March 26, 2025
Communicating Genetic Information in Families with Inherited Late-Onset Neurodegenerative Diseases: A Scoping Review
Sofia Fontoura Dias, Maria Barbosa, Filipa Júlio, et al.
Page
of 12