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Susan M White

Showing results (21-30 of 160) with videos related to

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Journal of Paediatrics and Child Health|April 28, 2017
Current use of chromosomal microarray by Australian paediatricians and implications for the implementation of next generation sequencingVictoria McKay, Daryl Efron, Elizabeth E Palmer, et al.
JIMD Reports|January 21, 2021
Galactose treatment of a PGM1 patient presenting with restrictive cardiomyopathySarah E Donoghue, Susan M White, Tiong Yang Tan, et al.
Internal Medicine Journal|March 23, 2017
Cohort study of Gorlin syndrome with emphasis on standardised phenotyping and quality of life assessmentAamira J Huq, Michael Bogwitz, Alexandra Gorelik, et al.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|November 26, 2009
Registry- and clinic-based analyses of birth defects and syndromes associated with cleft lip/palate in Victoria, AustraliaTiong Yang Tan, David J Amor, Merilyn Riley, et al.
Journal of the California Dental Association|January 29, 2016
Evaluation of the Upper Airway Morphology: The Role of Cone Beam Computed TomographySusan M White, Chien-Jung Huang, Shao-Ching Huang, et al.
NPJ Genomic Medicine|July 14, 2018
Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseasesMichelle M Clark, Zornitza Stark, Lauge Farnaes, et al.
Prenatal Diagnosis|May 21, 2005
Severe fetal brain dysgenesis with focal calcificationR J McKinlay Gardner, C W Chow, Ian Simpson, et al.
The Journal of Pediatrics|December 8, 2004
Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6Jeannie Visootsak, Beth Rosner, Elisabeth Dykens, et al.
Human Molecular Genetics|September 18, 2023
Erythromelalgia caused by the missense mutation p.Arg220Pro in an alternatively spliced exon of SCN9A (NaV1.7)Jennifer R Deuis, Smitha Kumble, Angelo Keramidas, et al.
Journal of Paediatrics and Child Health|September 1, 2020
Microarray diagnosis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy caused by a novel homozygous intragenic AIRE deletionLauren S Akesson, David Francis, Michelle G de Silva, et al.
Pageof 16

Showing results (21-30 of 160) with videos related to

Sort By:
Pageof 16
Journal of Paediatrics and Child Health|April 28, 2017
Current use of chromosomal microarray by Australian paediatricians and implications for the implementation of next generation sequencingVictoria McKay, Daryl Efron, Elizabeth E Palmer, et al.
JIMD Reports|January 21, 2021
Galactose treatment of a PGM1 patient presenting with restrictive cardiomyopathySarah E Donoghue, Susan M White, Tiong Yang Tan, et al.
Internal Medicine Journal|March 23, 2017
Cohort study of Gorlin syndrome with emphasis on standardised phenotyping and quality of life assessmentAamira J Huq, Michael Bogwitz, Alexandra Gorelik, et al.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|November 26, 2009
Registry- and clinic-based analyses of birth defects and syndromes associated with cleft lip/palate in Victoria, AustraliaTiong Yang Tan, David J Amor, Merilyn Riley, et al.
Journal of the California Dental Association|January 29, 2016
Evaluation of the Upper Airway Morphology: The Role of Cone Beam Computed TomographySusan M White, Chien-Jung Huang, Shao-Ching Huang, et al.
NPJ Genomic Medicine|July 14, 2018
Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseasesMichelle M Clark, Zornitza Stark, Lauge Farnaes, et al.
Prenatal Diagnosis|May 21, 2005
Severe fetal brain dysgenesis with focal calcificationR J McKinlay Gardner, C W Chow, Ian Simpson, et al.
The Journal of Pediatrics|December 8, 2004
Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6Jeannie Visootsak, Beth Rosner, Elisabeth Dykens, et al.
Human Molecular Genetics|September 18, 2023
Erythromelalgia caused by the missense mutation p.Arg220Pro in an alternatively spliced exon of SCN9A (NaV1.7)Jennifer R Deuis, Smitha Kumble, Angelo Keramidas, et al.
Journal of Paediatrics and Child Health|September 1, 2020
Microarray diagnosis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy caused by a novel homozygous intragenic AIRE deletionLauren S Akesson, David Francis, Michelle G de Silva, et al.
Pageof 16