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Nara L M Sobreira

Showing results (1-10 of 12) with videos related to

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American Journal of Medical Genetics. Part A|May 19, 2020
Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1Daniel R Carvalho, Carlos E Speck-Martins, Jaime M Brum, et al.
European Journal of Medical Genetics|November 25, 2017
Additional features of Gillespie syndrome in two Brazilian siblings with a novel ITPR1 homozygous pathogenic variantDaniel R Carvalho, João Eugenio G Medeiros, Daniela Sebestyan M Ribeiro, et al.
Genome Research|September 6, 2011
Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencingNara L M Sobreira, Veena Gnanakkan, Michael Walsh, et al.
American Journal of Medical Genetics. Part A|January 31, 2014
Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletionMichele P Migliavacca, Nara L M Sobreira, Graziela P M Antonialli, et al.
Current Protocols in Human Genetics|October 19, 2017
Matchmaker ExchangeNara L M Sobreira, Harindra Arachchi, Orion J Buske, et al.
Plos Genetics|June 26, 2010
Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease geneNara L M Sobreira, Elizabeth T Cirulli, Dimitrios Avramopoulos, et al.
Plos Genetics|December 8, 2022
Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndromeSarah R Poll, Renan Martin, Elizabeth Wohler, et al.
American Journal of Medical Genetics. Part A|August 5, 2017
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndromeAida Telegrafi, Bryn D Webb, Sarah M Robbins, et al.
Molecular Genetics & Genomic Medicine|March 15, 2021
Co-occurrence of orofacial clefts and clubfoot phenotypes in a sub-Saharan African cohort: Whole-exome sequencing implicates multiple syndromes and genesLord J J Gowans, Noura Al Dhaheri, Mary Li, et al.
Plos Genetics|September 15, 2010
The characterization of twenty sequenced human genomesKimberly Pelak, Kevin V Shianna, Dongliang Ge, et al.
Pageof 2

Showing results (1-10 of 12) with videos related to

Sort By:
Pageof 2
American Journal of Medical Genetics. Part A|May 19, 2020
Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1Daniel R Carvalho, Carlos E Speck-Martins, Jaime M Brum, et al.
European Journal of Medical Genetics|November 25, 2017
Additional features of Gillespie syndrome in two Brazilian siblings with a novel ITPR1 homozygous pathogenic variantDaniel R Carvalho, João Eugenio G Medeiros, Daniela Sebestyan M Ribeiro, et al.
Genome Research|September 6, 2011
Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencingNara L M Sobreira, Veena Gnanakkan, Michael Walsh, et al.
American Journal of Medical Genetics. Part A|January 31, 2014
Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletionMichele P Migliavacca, Nara L M Sobreira, Graziela P M Antonialli, et al.
Current Protocols in Human Genetics|October 19, 2017
Matchmaker ExchangeNara L M Sobreira, Harindra Arachchi, Orion J Buske, et al.
Plos Genetics|June 26, 2010
Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease geneNara L M Sobreira, Elizabeth T Cirulli, Dimitrios Avramopoulos, et al.
Plos Genetics|December 8, 2022
Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndromeSarah R Poll, Renan Martin, Elizabeth Wohler, et al.
American Journal of Medical Genetics. Part A|August 5, 2017
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndromeAida Telegrafi, Bryn D Webb, Sarah M Robbins, et al.
Molecular Genetics & Genomic Medicine|March 15, 2021
Co-occurrence of orofacial clefts and clubfoot phenotypes in a sub-Saharan African cohort: Whole-exome sequencing implicates multiple syndromes and genesLord J J Gowans, Noura Al Dhaheri, Mary Li, et al.
Plos Genetics|September 15, 2010
The characterization of twenty sequenced human genomesKimberly Pelak, Kevin V Shianna, Dongliang Ge, et al.
Pageof 2