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European Journal of Human Genetics : EJHG
|
October 21, 2016
Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease
Ahmad Alodaib, Nara Sobreira, Wendy A Gold, et al.
International Journal of Neonatal Screening
|
June 2, 2021
Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning
Mona Sajeev, Sharon Chin, Gladys Ho, et al.
American Journal of Medical Genetics. Part A
|
March 26, 2003
Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype
Linda S Weaving, Sarah L Williamson, Bruce Bennetts, et al.
Journal of Personalized Medicine
|
March 25, 2022
Human iPSC-Derived Retinal Organoids and Retinal Pigment Epithelium for Novel Intronic <i>RPGR</i> Variant Assessment for Therapy Suitability
Fidelle Chahine Karam, To Ha Loi, Alan Ma, et al.
Pathology
|
July 6, 2023
SNP chromosome microarray genotyping for detection of uniparental disomy in the clinical diagnostic laboratory
Con Ngo, Maria Baluyot, Bruce Bennetts, et al.
The Journal of Molecular Diagnostics : JMD
|
December 20, 2025
Piloting an Interpretive External Quality Assurance Model for Genomic Testing for Childhood Syndromes and Intellectual Disability
Ben Lundie, Sze Yee Chai, Alicia B Byrne, et al.
European Journal of Human Genetics : EJHG
|
August 23, 2007
Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband
Simon A Hardwick, Kirsten Reuter, Sarah L Williamson, et al.
European Journal of Human Genetics : EJHG
|
February 26, 2021
Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment
Benjamin M Nash, Christopher J G Watson, Edward Hughes, et al.
Stem Cells International
|
December 23, 2021
Evaluation for Retinal Therapy for <i>RPE65</i> Variation Assessed in hiPSC Retinal Pigment Epithelial Cells
Benjamin M Nash, To Ha Loi, Milan Fernando, et al.
Orphanet Journal of Rare Diseases
|
July 27, 2017
Childhood interstitial lung diseases in immunocompetent children in Australia and New Zealand: a decade's experience
Vishal Saddi, Sean Beggs, Bruce Bennetts, et al.
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Search research articles
Search
Showing results (31-40 of 67) with videos related to
Sort By:
Page
of 7
European Journal of Human Genetics : EJHG
|
October 21, 2016
Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease
Ahmad Alodaib, Nara Sobreira, Wendy A Gold, et al.
International Journal of Neonatal Screening
|
June 2, 2021
Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning
Mona Sajeev, Sharon Chin, Gladys Ho, et al.
American Journal of Medical Genetics. Part A
|
March 26, 2003
Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype
Linda S Weaving, Sarah L Williamson, Bruce Bennetts, et al.
Journal of Personalized Medicine
|
March 25, 2022
Human iPSC-Derived Retinal Organoids and Retinal Pigment Epithelium for Novel Intronic <i>RPGR</i> Variant Assessment for Therapy Suitability
Fidelle Chahine Karam, To Ha Loi, Alan Ma, et al.
Pathology
|
July 6, 2023
SNP chromosome microarray genotyping for detection of uniparental disomy in the clinical diagnostic laboratory
Con Ngo, Maria Baluyot, Bruce Bennetts, et al.
The Journal of Molecular Diagnostics : JMD
|
December 20, 2025
Piloting an Interpretive External Quality Assurance Model for Genomic Testing for Childhood Syndromes and Intellectual Disability
Ben Lundie, Sze Yee Chai, Alicia B Byrne, et al.
European Journal of Human Genetics : EJHG
|
August 23, 2007
Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband
Simon A Hardwick, Kirsten Reuter, Sarah L Williamson, et al.
European Journal of Human Genetics : EJHG
|
February 26, 2021
Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment
Benjamin M Nash, Christopher J G Watson, Edward Hughes, et al.
Stem Cells International
|
December 23, 2021
Evaluation for Retinal Therapy for <i>RPE65</i> Variation Assessed in hiPSC Retinal Pigment Epithelial Cells
Benjamin M Nash, To Ha Loi, Milan Fernando, et al.
Orphanet Journal of Rare Diseases
|
July 27, 2017
Childhood interstitial lung diseases in immunocompetent children in Australia and New Zealand: a decade's experience
Vishal Saddi, Sean Beggs, Bruce Bennetts, et al.
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of 7