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Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation
|
April 9, 2020
Parental health spillover effects of paediatric rare genetic conditions
You Wu, Hareth Al-Janabi, Andrew Mallett, et al.
Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology
|
November 1, 2018
Pitfalls of immunotherapy: lessons from a patient with CTLA-4 haploinsufficiency
Leisa Rebecca Watson, Charlotte A Slade, Samar Ojaimi, et al.
American Journal of Medical Genetics. Part A
|
April 28, 2017
KBG syndrome: An Australian experience
Natalia Murray, Bronwyn Burgess, Robin Hay, et al.
American Journal of Medical Genetics. Part A
|
February 8, 2017
A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9
Ashley P L Marsh, Patrick Yap, Tiong Tan, et al.
Molecular Syndromology
|
January 8, 2015
A mouse splice-site mutant and individuals with atypical chromosome 22q11.2 deletions demonstrate the crucial role for crkl in craniofacial and pharyngeal development
Kerry A Miller, Tiong Y Tan, Megan F Welfare, et al.
European Journal of Human Genetics : EJHG
|
June 1, 2019
Attitudes of Australian health professionals towards rapid genomic testing in neonatal and paediatric intensive care
Zornitza Stark, Amy Nisselle, Belinda McClaren, et al.
European Journal of Human Genetics : EJHG
|
July 31, 2019
Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing
Lauren S Akesson, Stefanie Eggers, Clare J Love, et al.
Genetics in Medicine Open
|
December 23, 2024
Rapid genomic testing in critically ill pediatric patients: Genetic counseling lessons from a national program
Kirsten Boggs, Fiona Lynch, Michelle Ward, et al.
Journal of Medical Genetics
|
March 18, 2020
A homozygous <i>UBA5</i> pathogenic variant causes a fatal congenital neuropathy
Macarena Cabrera-Serrano, David Joseph Coote, Dimitar Azmanov, et al.
American Journal of Human Genetics
|
January 5, 2019
Integrating Genomics into Healthcare: A Global Responsibility
Zornitza Stark, Lena Dolman, Teri A Manolio, et al.
Page
of 27
Search research articles
Search
Showing results (131-140 of 270) with videos related to
Sort By:
Page
of 27
Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation
|
April 9, 2020
Parental health spillover effects of paediatric rare genetic conditions
You Wu, Hareth Al-Janabi, Andrew Mallett, et al.
Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology
|
November 1, 2018
Pitfalls of immunotherapy: lessons from a patient with CTLA-4 haploinsufficiency
Leisa Rebecca Watson, Charlotte A Slade, Samar Ojaimi, et al.
American Journal of Medical Genetics. Part A
|
April 28, 2017
KBG syndrome: An Australian experience
Natalia Murray, Bronwyn Burgess, Robin Hay, et al.
American Journal of Medical Genetics. Part A
|
February 8, 2017
A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9
Ashley P L Marsh, Patrick Yap, Tiong Tan, et al.
Molecular Syndromology
|
January 8, 2015
A mouse splice-site mutant and individuals with atypical chromosome 22q11.2 deletions demonstrate the crucial role for crkl in craniofacial and pharyngeal development
Kerry A Miller, Tiong Y Tan, Megan F Welfare, et al.
European Journal of Human Genetics : EJHG
|
June 1, 2019
Attitudes of Australian health professionals towards rapid genomic testing in neonatal and paediatric intensive care
Zornitza Stark, Amy Nisselle, Belinda McClaren, et al.
European Journal of Human Genetics : EJHG
|
July 31, 2019
Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing
Lauren S Akesson, Stefanie Eggers, Clare J Love, et al.
Genetics in Medicine Open
|
December 23, 2024
Rapid genomic testing in critically ill pediatric patients: Genetic counseling lessons from a national program
Kirsten Boggs, Fiona Lynch, Michelle Ward, et al.
Journal of Medical Genetics
|
March 18, 2020
A homozygous <i>UBA5</i> pathogenic variant causes a fatal congenital neuropathy
Macarena Cabrera-Serrano, David Joseph Coote, Dimitar Azmanov, et al.
American Journal of Human Genetics
|
January 5, 2019
Integrating Genomics into Healthcare: A Global Responsibility
Zornitza Stark, Lena Dolman, Teri A Manolio, et al.
Page
of 27