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Prenatal Diagnosis
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May 13, 2017
Recommended practice for laboratory reporting of non-invasive prenatal testing of trisomies 13, 18 and 21: a consensus opinion
Zandra C Deans, Stephanie Allen, Lucy Jenkins, et al.
Clinical Genetics
|
October 26, 2019
Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia
Mahmoud R Fassad, Walaa I Shoman, Heba Morsy, et al.
Journal of Medical Genetics
|
March 20, 2016
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis
Natalie Trump, Amy McTague, Helen Brittain, et al.
BMJ (Clinical Research Ed.)
|
July 6, 2016
Uptake, outcomes, and costs of implementing non-invasive prenatal testing for Down's syndrome into NHS maternity care: prospective cohort study in eight diverse maternity units
Lyn S Chitty, David Wright, Melissa Hill, et al.
Journal of Vascular Surgery. Venous and Lymphatic Disorders
|
May 19, 2026
A Cross-Sectional Study of the use of Graduated Compression Stockings (GCS) at two Top End Hospitals in Darwin, Australia
Jennifer M Byrnes, Robert J Commons, Mark J Hamilton, et al.
Journal of Medical Genetics
|
July 28, 2018
Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children
Lamia Mestek-Boukhibar, Emma Clement, Wendy D Jones, et al.
Plos One
|
July 28, 2017
Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis
Ebun Omoyinmi, Ariane Standing, Annette Keylock, et al.
American Journal of Human Genetics
|
May 5, 2018
C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia
Mahmoud R Fassad, Amelia Shoemark, Pierrick le Borgne, et al.
Journal of Clinical Immunology
|
November 4, 2016
Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing
Karin R Engelhardt, Yaobo Xu, Angela Grainger, et al.
Ophthalmology
|
January 18, 2019
The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders
Aara Patel, Jane D Hayward, Vijay Tailor, et al.
Page
of 4
Search research articles
Search
Showing results (21-30 of 39) with videos related to
Sort By:
Page
of 4
Prenatal Diagnosis
|
May 13, 2017
Recommended practice for laboratory reporting of non-invasive prenatal testing of trisomies 13, 18 and 21: a consensus opinion
Zandra C Deans, Stephanie Allen, Lucy Jenkins, et al.
Clinical Genetics
|
October 26, 2019
Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia
Mahmoud R Fassad, Walaa I Shoman, Heba Morsy, et al.
Journal of Medical Genetics
|
March 20, 2016
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis
Natalie Trump, Amy McTague, Helen Brittain, et al.
BMJ (Clinical Research Ed.)
|
July 6, 2016
Uptake, outcomes, and costs of implementing non-invasive prenatal testing for Down's syndrome into NHS maternity care: prospective cohort study in eight diverse maternity units
Lyn S Chitty, David Wright, Melissa Hill, et al.
Journal of Vascular Surgery. Venous and Lymphatic Disorders
|
May 19, 2026
A Cross-Sectional Study of the use of Graduated Compression Stockings (GCS) at two Top End Hospitals in Darwin, Australia
Jennifer M Byrnes, Robert J Commons, Mark J Hamilton, et al.
Journal of Medical Genetics
|
July 28, 2018
Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children
Lamia Mestek-Boukhibar, Emma Clement, Wendy D Jones, et al.
Plos One
|
July 28, 2017
Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis
Ebun Omoyinmi, Ariane Standing, Annette Keylock, et al.
American Journal of Human Genetics
|
May 5, 2018
C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia
Mahmoud R Fassad, Amelia Shoemark, Pierrick le Borgne, et al.
Journal of Clinical Immunology
|
November 4, 2016
Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing
Karin R Engelhardt, Yaobo Xu, Angela Grainger, et al.
Ophthalmology
|
January 18, 2019
The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders
Aara Patel, Jane D Hayward, Vijay Tailor, et al.
Page
of 4