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Maria Isabel Melaragno

Showing results (51-60 of 86) with videos related to

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Genes|May 25, 2024
Neuropsychological Profile of 25 Brazilian Patients with 22q11.2 Deletion Syndrome: Effects of Clinical and Socioeconomic VariablesLarissa Salustiano Evangelista Pimenta, Claudia Berlim de Mello, Luciana Mello Di Benedetto, et al.
Frontiers in Genetics|October 7, 2021
Intelligence Quotient Variability in Klinefelter Syndrome Is Associated With GTPBP6 Expression Under Regulation of X-Chromosome Inactivation PatternLuciane Simonetti, Lucas G A Ferreira, Angela Cristina Vidi, et al.
American Journal of Medical Genetics. Part A|April 12, 2012
Severe phenotype in MPS II patients associated with a large deletion including contiguous genesAna Carolina Brusius-Facchin, Carolina Fischinger Moura De Souza, Ida Vanessa D Schwartz, et al.
Neuromuscular Disorders : NMD|March 5, 2013
Spinal muscular atrophy due to a "de novo" 1.3 Mb deletion: implication for genetic counselingLuciana Rodrigues Jacy da Silva, Mileny Esbravatti Stephano Colovati, Bruno Coprerski, et al.
American Journal of Medical Genetics. Part A|June 6, 2014
Cytogenomic delineation and clinical follow-up of two siblings with an 8.5 Mb 6q24.2-q25.2 deletion inherited from a paternal insertionVera Ayres Meloni, Roberta Santos Guilherme, Mariana Moyses Oliveira, et al.
American Journal of Medical Genetics. Part A|May 21, 2025
Quality of Life of Families Who Have Children With Cornelia de Lange Syndrome in Brazil: Opportunities for ImprovementAline Apis, Beatriz Carvalho Nunes, Thainá Vilella, et al.
BMC Medical Genetics|December 21, 2014
Duplication 9p and their implication to phenotypeRoberta Santos Guilherme, Vera Ayres Meloni, Ana Beatriz Alvarez Perez, et al.
American Journal of Medical Genetics. Part A|July 17, 2010
Trisomy 16q21 --> qter: Seven-year follow-up of a girl with unusually long survivalAcácia Fernandes Lacerda de Carvalho, Fernanda Teixeira da Silva Bellucco, Normeide Pedreira dos Santos, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|August 21, 2015
X-linked intellectual disability related genes disrupted by balanced X-autosome translocationsMariana Moysés-Oliveira, Roberta Santos Guilherme, Vera Ayres Meloni, et al.
Fertility and Sterility|March 10, 2015
Genetic mechanisms leading to primary amenorrhea in balanced X-autosome translocationsMariana Moysés-Oliveira, Roberta Dos Santos Guilherme, Anelisa Gollo Dantas, et al.
Pageof 9

Showing results (51-60 of 86) with videos related to

Sort By:
Pageof 9
Genes|May 25, 2024
Neuropsychological Profile of 25 Brazilian Patients with 22q11.2 Deletion Syndrome: Effects of Clinical and Socioeconomic VariablesLarissa Salustiano Evangelista Pimenta, Claudia Berlim de Mello, Luciana Mello Di Benedetto, et al.
Frontiers in Genetics|October 7, 2021
Intelligence Quotient Variability in Klinefelter Syndrome Is Associated With GTPBP6 Expression Under Regulation of X-Chromosome Inactivation PatternLuciane Simonetti, Lucas G A Ferreira, Angela Cristina Vidi, et al.
American Journal of Medical Genetics. Part A|April 12, 2012
Severe phenotype in MPS II patients associated with a large deletion including contiguous genesAna Carolina Brusius-Facchin, Carolina Fischinger Moura De Souza, Ida Vanessa D Schwartz, et al.
Neuromuscular Disorders : NMD|March 5, 2013
Spinal muscular atrophy due to a "de novo" 1.3 Mb deletion: implication for genetic counselingLuciana Rodrigues Jacy da Silva, Mileny Esbravatti Stephano Colovati, Bruno Coprerski, et al.
American Journal of Medical Genetics. Part A|June 6, 2014
Cytogenomic delineation and clinical follow-up of two siblings with an 8.5 Mb 6q24.2-q25.2 deletion inherited from a paternal insertionVera Ayres Meloni, Roberta Santos Guilherme, Mariana Moyses Oliveira, et al.
American Journal of Medical Genetics. Part A|May 21, 2025
Quality of Life of Families Who Have Children With Cornelia de Lange Syndrome in Brazil: Opportunities for ImprovementAline Apis, Beatriz Carvalho Nunes, Thainá Vilella, et al.
BMC Medical Genetics|December 21, 2014
Duplication 9p and their implication to phenotypeRoberta Santos Guilherme, Vera Ayres Meloni, Ana Beatriz Alvarez Perez, et al.
American Journal of Medical Genetics. Part A|July 17, 2010
Trisomy 16q21 --> qter: Seven-year follow-up of a girl with unusually long survivalAcácia Fernandes Lacerda de Carvalho, Fernanda Teixeira da Silva Bellucco, Normeide Pedreira dos Santos, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|August 21, 2015
X-linked intellectual disability related genes disrupted by balanced X-autosome translocationsMariana Moysés-Oliveira, Roberta Santos Guilherme, Vera Ayres Meloni, et al.
Fertility and Sterility|March 10, 2015
Genetic mechanisms leading to primary amenorrhea in balanced X-autosome translocationsMariana Moysés-Oliveira, Roberta Dos Santos Guilherme, Anelisa Gollo Dantas, et al.
Pageof 9