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European Journal of Human Genetics : EJHG
|
February 18, 2018
Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders
Oliver James Dillon, Sebastian Lunke, Zornitza Stark, et al.
Genes
|
October 27, 2022
Participant Choice towards Receiving Potential Additional Findings in an Australian Nephrology Research Genomics Study
Rosie O'Shea, Alasdair Wood, Chirag Patel, et al.
American Journal of Human Genetics
|
May 29, 2025
Public preferences for the value and implementation of genomic newborn screening: Insights from two discrete choice experiments in Australia
Riccarda Peters, Stephanie Best, Fiona Lynch, et al.
European Journal of Human Genetics : EJHG
|
February 13, 2026
Impact of a digital platform on genetic counselling encounters in the screening context
Chloe Mighton, Alli Jan, Ling Lee, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 2, 2024
The cost of proband and trio exome and genome analysis in rare disease: A micro-costing study
Dylan A Mordaunt, Francisco Santos Gonzalez, Sebastian Lunke, et al.
Molecular Syndromology
|
April 8, 2020
Rapid Identification of Biallelic <i>SPTB</i> Mutation in a Neonate with Severe Congenital Hemolytic Anemia and Liver Failure
Christopher M Richmond, Sally Campbell, Hee W Foo, et al.
Kidney International Reports
|
November 22, 2021
Cost-Effectiveness of Targeted Exome Analysis as a Diagnostic Test in Glomerular Diseases
Kushani Jayasinghe, You Wu, Zornitza Stark, et al.
American Journal of Medical Genetics. Part A
|
September 26, 2017
De novo mutations in HNRNPU result in a neurodevelopmental syndrome
T Michael Yates, Pradeep C Vasudevan, Kate E Chandler, et al.
BMC Nephrology
|
August 24, 2019
Isolated proteinuria due to CUBN homozygous mutation - challenging the investigative paradigm
Kushani Jayasinghe, Susan M White, Peter G Kerr, 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.
Page
of 27
Search research articles
Search
Showing results (91-100 of 270) with videos related to
Sort By:
Page
of 27
European Journal of Human Genetics : EJHG
|
February 18, 2018
Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders
Oliver James Dillon, Sebastian Lunke, Zornitza Stark, et al.
Genes
|
October 27, 2022
Participant Choice towards Receiving Potential Additional Findings in an Australian Nephrology Research Genomics Study
Rosie O'Shea, Alasdair Wood, Chirag Patel, et al.
American Journal of Human Genetics
|
May 29, 2025
Public preferences for the value and implementation of genomic newborn screening: Insights from two discrete choice experiments in Australia
Riccarda Peters, Stephanie Best, Fiona Lynch, et al.
European Journal of Human Genetics : EJHG
|
February 13, 2026
Impact of a digital platform on genetic counselling encounters in the screening context
Chloe Mighton, Alli Jan, Ling Lee, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 2, 2024
The cost of proband and trio exome and genome analysis in rare disease: A micro-costing study
Dylan A Mordaunt, Francisco Santos Gonzalez, Sebastian Lunke, et al.
Molecular Syndromology
|
April 8, 2020
Rapid Identification of Biallelic <i>SPTB</i> Mutation in a Neonate with Severe Congenital Hemolytic Anemia and Liver Failure
Christopher M Richmond, Sally Campbell, Hee W Foo, et al.
Kidney International Reports
|
November 22, 2021
Cost-Effectiveness of Targeted Exome Analysis as a Diagnostic Test in Glomerular Diseases
Kushani Jayasinghe, You Wu, Zornitza Stark, et al.
American Journal of Medical Genetics. Part A
|
September 26, 2017
De novo mutations in HNRNPU result in a neurodevelopmental syndrome
T Michael Yates, Pradeep C Vasudevan, Kate E Chandler, et al.
BMC Nephrology
|
August 24, 2019
Isolated proteinuria due to CUBN homozygous mutation - challenging the investigative paradigm
Kushani Jayasinghe, Susan M White, Peter G Kerr, 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.
Page
of 27