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Cold Spring Harbor Molecular Case Studies
|
February 15, 2022
Ethylmalonic encephalopathy masquerading as meningococcemia
Ari Horton, Kai Mun Hong, Dinusha Pandithan, et al.
BMJ Open
|
August 7, 2019
Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocol
Kushani Jayasinghe, Zornitza Stark, Chirag Patel, et al.
European Journal of Human Genetics : EJHG
|
February 8, 2018
Offering pregnant women different levels of genetic information from prenatal chromosome microarray: a prospective study
Jane L Halliday, Cecile Muller, Taryn Charles, et al.
Human Mutation
|
August 19, 2011
Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays
Damien L Bruno, Zornitza Stark, David J Amor, et al.
Seminars in Pediatric Neurology
|
July 3, 2018
Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome
Ian R Woodcock, Manoj P Menezes, Lee Coleman, et al.
American Journal of Medical Genetics. Part A
|
December 20, 2013
Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions
Trent Burgess, Natasha J Brown, Zornitza Stark, et al.
American Journal of Medical Genetics. Part A
|
June 19, 2025
The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)
Sarah Donoghue, Smitha Kumble, Pontus Wasling, et al.
NPJ Genomic Medicine
|
November 8, 2024
Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand
Denis M Nyaga, Peter Tsai, Clare Gebbie, et al.
Human Mutation
|
September 9, 2020
Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate
Lauren S Akesson, Adam Bournazos, Andrew Fennell, et al.
European Journal of Human Genetics : EJHG
|
January 13, 2026
Childhood motor speech disorders: who to prioritise for genetic testing
Halianna Van Niel, Mariana Lauretta, Emma Baker, et al.
Page
of 27
Search research articles
Search
Showing results (141-150 of 270) with videos related to
Sort By:
Page
of 27
Cold Spring Harbor Molecular Case Studies
|
February 15, 2022
Ethylmalonic encephalopathy masquerading as meningococcemia
Ari Horton, Kai Mun Hong, Dinusha Pandithan, et al.
BMJ Open
|
August 7, 2019
Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocol
Kushani Jayasinghe, Zornitza Stark, Chirag Patel, et al.
European Journal of Human Genetics : EJHG
|
February 8, 2018
Offering pregnant women different levels of genetic information from prenatal chromosome microarray: a prospective study
Jane L Halliday, Cecile Muller, Taryn Charles, et al.
Human Mutation
|
August 19, 2011
Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays
Damien L Bruno, Zornitza Stark, David J Amor, et al.
Seminars in Pediatric Neurology
|
July 3, 2018
Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome
Ian R Woodcock, Manoj P Menezes, Lee Coleman, et al.
American Journal of Medical Genetics. Part A
|
December 20, 2013
Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions
Trent Burgess, Natasha J Brown, Zornitza Stark, et al.
American Journal of Medical Genetics. Part A
|
June 19, 2025
The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)
Sarah Donoghue, Smitha Kumble, Pontus Wasling, et al.
NPJ Genomic Medicine
|
November 8, 2024
Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand
Denis M Nyaga, Peter Tsai, Clare Gebbie, et al.
Human Mutation
|
September 9, 2020
Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate
Lauren S Akesson, Adam Bournazos, Andrew Fennell, et al.
European Journal of Human Genetics : EJHG
|
January 13, 2026
Childhood motor speech disorders: who to prioritise for genetic testing
Halianna Van Niel, Mariana Lauretta, Emma Baker, et al.
Page
of 27