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Journal of Paediatrics and Child Health
|
August 24, 2006
Tumour surveillance in Beckwith-Wiedemann syndrome and hemihyperplasia: a critical review of the evidence and suggested guidelines for local practice
Tiong Y Tan, David J Amor
Molecular Syndromology
|
December 7, 2016
Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology
Peter G Farlie, Naomi L Baker, Patrick Yap, et al.
European Journal of Human Genetics : EJHG
|
January 20, 2012
Questionable pathogenicity of FOXG1 duplication
David J Amor, Trent Burgess, Tiong Y Tan, et al.
Biology of Reproduction
|
July 31, 2022
Genomic testing in premature ovarian insufficiency: proceed with caution
Elena J Tucker, Tiong Y Tan, Zornitza Stark, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 11, 2021
Clinical and laboratory reporting impact of ACMG-AMP and modified ClinGen variant classification frameworks in MYH7-related cardiomyopathy
Christopher M Richmond, Paul A James, Sarah-Jane Pantaleo, et al.
NPJ Genomic Medicine
|
July 14, 2018
Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases
Michelle M Clark, Zornitza Stark, Lauge Farnaes, et al.
American Journal of Medical Genetics. Part A
|
June 11, 2015
SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia
Zornitza Stark, Joanna Behrsin, Trent Burgess, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 19, 2022
Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and children
Ilias Goranitis, You Wu, Sebastian Lunke, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 31, 2018
Correction: Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness
Zornitza Stark, Deborah Schofield, Melissa Martyn, et al.
American Journal of Medical Genetics. Part A
|
December 23, 2017
The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor
Frederike L Harms, Malik Alawi, David J Amor, et al.
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of 6
Search research articles
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Showing results (1-10 of 56) with videos related to
Sort By:
Page
of 6
Journal of Paediatrics and Child Health
|
August 24, 2006
Tumour surveillance in Beckwith-Wiedemann syndrome and hemihyperplasia: a critical review of the evidence and suggested guidelines for local practice
Tiong Y Tan, David J Amor
Molecular Syndromology
|
December 7, 2016
Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology
Peter G Farlie, Naomi L Baker, Patrick Yap, et al.
European Journal of Human Genetics : EJHG
|
January 20, 2012
Questionable pathogenicity of FOXG1 duplication
David J Amor, Trent Burgess, Tiong Y Tan, et al.
Biology of Reproduction
|
July 31, 2022
Genomic testing in premature ovarian insufficiency: proceed with caution
Elena J Tucker, Tiong Y Tan, Zornitza Stark, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 11, 2021
Clinical and laboratory reporting impact of ACMG-AMP and modified ClinGen variant classification frameworks in MYH7-related cardiomyopathy
Christopher M Richmond, Paul A James, Sarah-Jane Pantaleo, et al.
NPJ Genomic Medicine
|
July 14, 2018
Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases
Michelle M Clark, Zornitza Stark, Lauge Farnaes, et al.
American Journal of Medical Genetics. Part A
|
June 11, 2015
SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia
Zornitza Stark, Joanna Behrsin, Trent Burgess, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 19, 2022
Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and children
Ilias Goranitis, You Wu, Sebastian Lunke, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 31, 2018
Correction: Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness
Zornitza Stark, Deborah Schofield, Melissa Martyn, et al.
American Journal of Medical Genetics. Part A
|
December 23, 2017
The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor
Frederike L Harms, Malik Alawi, David J Amor, et al.
Page
of 6