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Movement Disorders : Official Journal of the Movement Disorder Society
|
April 11, 2016
Phenotypic insights into ADCY5-associated disease
Florence C F Chang, Ana Westenberger, Russell C Dale, et al.
The Journal of Molecular Diagnostics : JMD
|
May 7, 2021
Clinically Responsive Genomic Analysis Pipelines: Elements to Improve Detection Rate and Efficiency
Samantha Leigh Sundercombe, Marina Berbic, Carey-Anne Evans, et al.
Neurology
|
February 11, 2021
Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies
Elizabeth Emma Palmer, Rani Sachdev, Rebecca Macintosh, et al.
American Journal of Human Genetics
|
November 7, 2020
RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features
Elizabeth E Palmer, Renee Carroll, Marie Shaw, et al.
Clinical Epigenetics
|
September 1, 2018
Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome
Vinod Dagar, Wendy Hutchison, Andrea Muscat, et al.
European Journal of Human Genetics : EJHG
|
August 15, 2022
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis
Lisa J Ewans, Andre E Minoche, Deborah Schofield, et al.
European Journal of Human Genetics : EJHG
|
September 15, 2021
Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON
Alexander J M Dingemans, Kim M G Truijen, Jung-Hyun Kim, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 8, 2017
A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations
Eric Lee, Trang Le, Ying Zhu, et al.
Journal of Medical Genetics
|
July 5, 2022
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation
Shino Shimada, Bobby G Ng, Amy L White, et al.
American Journal of Medical Genetics. Part A
|
May 15, 2023
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families
Monica H Wojcik, Siddharth Srivastava, Pankaj B Agrawal, et al.
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of 6
Search research articles
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Showing results (31-40 of 51) with videos related to
Sort By:
Page
of 6
Movement Disorders : Official Journal of the Movement Disorder Society
|
April 11, 2016
Phenotypic insights into ADCY5-associated disease
Florence C F Chang, Ana Westenberger, Russell C Dale, et al.
The Journal of Molecular Diagnostics : JMD
|
May 7, 2021
Clinically Responsive Genomic Analysis Pipelines: Elements to Improve Detection Rate and Efficiency
Samantha Leigh Sundercombe, Marina Berbic, Carey-Anne Evans, et al.
Neurology
|
February 11, 2021
Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies
Elizabeth Emma Palmer, Rani Sachdev, Rebecca Macintosh, et al.
American Journal of Human Genetics
|
November 7, 2020
RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features
Elizabeth E Palmer, Renee Carroll, Marie Shaw, et al.
Clinical Epigenetics
|
September 1, 2018
Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome
Vinod Dagar, Wendy Hutchison, Andrea Muscat, et al.
European Journal of Human Genetics : EJHG
|
August 15, 2022
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis
Lisa J Ewans, Andre E Minoche, Deborah Schofield, et al.
European Journal of Human Genetics : EJHG
|
September 15, 2021
Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON
Alexander J M Dingemans, Kim M G Truijen, Jung-Hyun Kim, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 8, 2017
A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations
Eric Lee, Trang Le, Ying Zhu, et al.
Journal of Medical Genetics
|
July 5, 2022
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation
Shino Shimada, Bobby G Ng, Amy L White, et al.
American Journal of Medical Genetics. Part A
|
May 15, 2023
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families
Monica H Wojcik, Siddharth Srivastava, Pankaj B Agrawal, et al.
Page
of 6