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Bruce Bennetts

Showing results (41-50 of 67) with videos related to

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The Journal of Pediatrics|August 4, 2009
Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genesAaron Hamvas, Lawrence M Nogee, Daniel J Wegner, et al.
Human Mutation|December 24, 2015
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation SequencingAlan S Ma, John R Grigg, Gladys Ho, et al.
BMJ Open Respiratory Research|February 22, 2022
Genomic testing for children with interstitial and diffuse lung disease (chILD): parent satisfaction, understanding and health-related quality of lifeLauren Kelada, Claire Wakefield, Nada Vidic, et al.
Seizure|June 1, 2018
Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathyKavitha Kothur, Katherine Holman, Elizabeth Farnsworth, et al.
NPJ Genomic Medicine|March 5, 2021
Australia and New Zealand renal gene panel testing in routine clinical practice of 542 familiesHope A Tanudisastro, Katherine Holman, Gladys Ho, et al.
American Journal of Human Genetics|May 1, 2018
Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic MechanismsThomas A Forbes, Sara E Howden, Kynan Lawlor, et al.
Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies|April 20, 2010
Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disordersRose White, Gladys Ho, Swetlana Schmidt, et al.
American Journal of Human Genetics|October 20, 2004
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardationLinda S Weaving, John Christodoulou, Sarah L Williamson, et al.
Journal of Paediatrics and Child Health|April 12, 2024
Genomic multidisciplinary teams: A model for navigating genetic mainstreaming and precision medicineAlan Ma, Timothy P Newing, Rosie O'Shea, et al.
Genes, Chromosomes & Cancer|October 23, 2021
Rare germline variants in childhood cancer patients suspected of genetic predisposition to cancerDianne E Sylvester, Yuyan Chen, Natalie Grima, et al.
Pageof 7

Showing results (41-50 of 67) with videos related to

Sort By:
Pageof 7
The Journal of Pediatrics|August 4, 2009
Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genesAaron Hamvas, Lawrence M Nogee, Daniel J Wegner, et al.
Human Mutation|December 24, 2015
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation SequencingAlan S Ma, John R Grigg, Gladys Ho, et al.
BMJ Open Respiratory Research|February 22, 2022
Genomic testing for children with interstitial and diffuse lung disease (chILD): parent satisfaction, understanding and health-related quality of lifeLauren Kelada, Claire Wakefield, Nada Vidic, et al.
Seizure|June 1, 2018
Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathyKavitha Kothur, Katherine Holman, Elizabeth Farnsworth, et al.
NPJ Genomic Medicine|March 5, 2021
Australia and New Zealand renal gene panel testing in routine clinical practice of 542 familiesHope A Tanudisastro, Katherine Holman, Gladys Ho, et al.
American Journal of Human Genetics|May 1, 2018
Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic MechanismsThomas A Forbes, Sara E Howden, Kynan Lawlor, et al.
Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies|April 20, 2010
Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disordersRose White, Gladys Ho, Swetlana Schmidt, et al.
American Journal of Human Genetics|October 20, 2004
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardationLinda S Weaving, John Christodoulou, Sarah L Williamson, et al.
Journal of Paediatrics and Child Health|April 12, 2024
Genomic multidisciplinary teams: A model for navigating genetic mainstreaming and precision medicineAlan Ma, Timothy P Newing, Rosie O'Shea, et al.
Genes, Chromosomes & Cancer|October 23, 2021
Rare germline variants in childhood cancer patients suspected of genetic predisposition to cancerDianne E Sylvester, Yuyan Chen, Natalie Grima, et al.
Pageof 7