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Deborah Barbouth

Showing results (1-10 of 16) with videos related to

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Journal of Pediatric Genetics|May 8, 2019
Early-Onset Marfan Syndrome: A Case SeriesMohanageetha Ardhanari, Deborah Barbouth, Sethuraman Swaminathan
Orphanet Journal of Rare Diseases|April 2, 2014
Patients with type 1 Gaucher disease in South Florida, USA: demographics, genotypes, disease severity and treatment outcomesMarissa Orenstein, Deborah Barbouth, Olaf A Bodamer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 17, 2006
Prevention of a molecular misdiagnosis in galactosemiaDeborah Barbouth, Tatiana Slepak, Helene Klapper, et al.
Journal of Human Genetics|December 18, 2024
Ultra-rare monogenic disorders frequently detected among sex chromosome aneuploidy patients with atypical findingsKiana Magee, William McGonigle, Rena Pressman, et al.
Human Genetics|September 6, 2013
Comprehensive analysis of the transcriptional landscape of the human FMR1 gene reveals two new long noncoding RNAs differentially expressed in Fragile X syndrome and Fragile X-associated tremor/ataxia syndromeChiara Pastori, Veronica J Peschansky, Deborah Barbouth, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 16, 2009
Expanded newborn screening in Puerto Rico and the US Virgin Islands: education and barriers assessmentAna Morales, Andrea Wierenga, Carla Cuthbert, et al.
Journal of Community Genetics|January 14, 2014
Knowledge, attitudes, and barriers to carrier screening for the Ashkenazi Jewish panel: a Florida experience : Education and Barriers assessment for Jewish Genetic DiseasesJessica R L Warsch, Sean Warsch, Elizabeth Herman, et al.
Pediatrics|October 8, 2014
Fragile X syndrome: a review of associated medical problemsSharon A Kidd, Ave Lachiewicz, Deborah Barbouth, et al.
Molecular Genetics & Genomic Medicine|March 5, 2022
Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic diseaseNicholas Borja, Stephanie Bivona, Lé Shon Peart, et al.
Human Mutation|July 11, 2007
Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridizationYao-Shan Fan, Parul Jayakar, Hongbo Zhu, et al.
Pageof 2

Showing results (1-10 of 16) with videos related to

Sort By:
Pageof 2
Journal of Pediatric Genetics|May 8, 2019
Early-Onset Marfan Syndrome: A Case SeriesMohanageetha Ardhanari, Deborah Barbouth, Sethuraman Swaminathan
Orphanet Journal of Rare Diseases|April 2, 2014
Patients with type 1 Gaucher disease in South Florida, USA: demographics, genotypes, disease severity and treatment outcomesMarissa Orenstein, Deborah Barbouth, Olaf A Bodamer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 17, 2006
Prevention of a molecular misdiagnosis in galactosemiaDeborah Barbouth, Tatiana Slepak, Helene Klapper, et al.
Journal of Human Genetics|December 18, 2024
Ultra-rare monogenic disorders frequently detected among sex chromosome aneuploidy patients with atypical findingsKiana Magee, William McGonigle, Rena Pressman, et al.
Human Genetics|September 6, 2013
Comprehensive analysis of the transcriptional landscape of the human FMR1 gene reveals two new long noncoding RNAs differentially expressed in Fragile X syndrome and Fragile X-associated tremor/ataxia syndromeChiara Pastori, Veronica J Peschansky, Deborah Barbouth, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 16, 2009
Expanded newborn screening in Puerto Rico and the US Virgin Islands: education and barriers assessmentAna Morales, Andrea Wierenga, Carla Cuthbert, et al.
Journal of Community Genetics|January 14, 2014
Knowledge, attitudes, and barriers to carrier screening for the Ashkenazi Jewish panel: a Florida experience : Education and Barriers assessment for Jewish Genetic DiseasesJessica R L Warsch, Sean Warsch, Elizabeth Herman, et al.
Pediatrics|October 8, 2014
Fragile X syndrome: a review of associated medical problemsSharon A Kidd, Ave Lachiewicz, Deborah Barbouth, et al.
Molecular Genetics & Genomic Medicine|March 5, 2022
Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic diseaseNicholas Borja, Stephanie Bivona, Lé Shon Peart, et al.
Human Mutation|July 11, 2007
Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridizationYao-Shan Fan, Parul Jayakar, Hongbo Zhu, et al.
Pageof 2