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Haemophilia : the Official Journal of the World Federation of Hemophilia
|
August 17, 2021
Immune tolerance induction in severe haemophilia A: A UKHCDO inhibitor and paediatric working party consensus update
Daniel P Hart, Jayanthi Alamelu, Neha Bhatnagar, et al.
Journal of Medical Genetics
|
May 22, 2016
Molecular findings from 537 individuals with inherited retinal disease
Jamie M Ellingford, Stephanie Barton, Sanjeev Bhaskar, et al.
Scientific Reports
|
November 14, 2019
Clinical and genetic variability in children with partial albinism
Patrick Campbell, Jamie M Ellingford, Neil R A Parry, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 23, 2020
Correction: Clinical utility of genetic testing in 201 preschool children with inherited eye disorders
Eva Lenassi, Jill Clayton-Smith, Sofia Douzgou, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 19, 2019
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders
Eva Lenassi, Jill Clayton-Smith, Sofia Douzgou, et al.
Ophthalmology
|
February 14, 2016
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease
Jamie M Ellingford, Stephanie Barton, Sanjeev Bhaskar, et al.
Glycobiology
|
March 10, 2011
G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction
Bu'hussain Hayee, Aristotelis Antonopoulos, Emma J Murphy, et al.
Ophthalmology
|
March 26, 2017
Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease
Rachel L Taylor, Neil R A Parry, Stephanie J Barton, et al.
British Journal of Haematology
|
July 20, 2016
A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias
Noémi B A Roy, Edward A Wilson, Shirley Henderson, et al.
Blood
|
September 12, 2013
GATA1-mutant clones are frequent and often unsuspected in babies with Down syndrome: identification of a population at risk of leukemia
Irene Roberts, Kate Alford, Georgina Hall, et al.
Page
of 5
Search research articles
Search
Showing results (31-40 of 41) with videos related to
Sort By:
Page
of 5
Haemophilia : the Official Journal of the World Federation of Hemophilia
|
August 17, 2021
Immune tolerance induction in severe haemophilia A: A UKHCDO inhibitor and paediatric working party consensus update
Daniel P Hart, Jayanthi Alamelu, Neha Bhatnagar, et al.
Journal of Medical Genetics
|
May 22, 2016
Molecular findings from 537 individuals with inherited retinal disease
Jamie M Ellingford, Stephanie Barton, Sanjeev Bhaskar, et al.
Scientific Reports
|
November 14, 2019
Clinical and genetic variability in children with partial albinism
Patrick Campbell, Jamie M Ellingford, Neil R A Parry, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 23, 2020
Correction: Clinical utility of genetic testing in 201 preschool children with inherited eye disorders
Eva Lenassi, Jill Clayton-Smith, Sofia Douzgou, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 19, 2019
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders
Eva Lenassi, Jill Clayton-Smith, Sofia Douzgou, et al.
Ophthalmology
|
February 14, 2016
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease
Jamie M Ellingford, Stephanie Barton, Sanjeev Bhaskar, et al.
Glycobiology
|
March 10, 2011
G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction
Bu'hussain Hayee, Aristotelis Antonopoulos, Emma J Murphy, et al.
Ophthalmology
|
March 26, 2017
Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease
Rachel L Taylor, Neil R A Parry, Stephanie J Barton, et al.
British Journal of Haematology
|
July 20, 2016
A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias
Noémi B A Roy, Edward A Wilson, Shirley Henderson, et al.
Blood
|
September 12, 2013
GATA1-mutant clones are frequent and often unsuspected in babies with Down syndrome: identification of a population at risk of leukemia
Irene Roberts, Kate Alford, Georgina Hall, et al.
Page
of 5