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Journal of Assisted Reproduction and Genetics|May 13, 2020
Efficacy of MLPA for detection of Y-chromosome microdeletions in infertile Brazilian patientsC S Franchim, J M Soares-Junior, P C Serafini, et al.American Journal of Medical Genetics. Part A|October 1, 2015
Rare genomic rearrangement in a boy with Williams-Beuren syndrome associated to XYY syndrome and intriguing behaviorRoberta L Dutra, Flavia B Piazzon, Évelin A Zanardo, et al.Journal of the Endocrine Society|November 16, 2020
Comprehensive Genetic Analysis of 128 Candidate Genes in a Cohort With Idiopathic, Severe, or Familial OsteoporosisManuela G M Rocha-Braz, Monica M França, Adriana M Fernandes, et al.Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA|March 4, 2020
The molecular landscape of osteogenesis imperfecta in a Brazilian tertiary service cohortA M Fernandes, M G M Rocha-Braz, M M França, et al.Archives of Gerontology and Geriatrics|February 24, 2007
The Treviso Longeva (Trelong) study: a biomedical, demographic, economic and social investigation on people 70 years and over in a typical town of North-East of ItalyM Gallucci, F Ongaro, F Bresolin, et al.Journal of Pediatric Genetics|January 1, 2024
Novel <i>FERMT3</i> and <i>PTPRQ</i> Mutations Associated with Leukocyte Adhesion Deficiency-III and Sensorineural Hearing LossGabriela de Toledo Passos Candelaria, Alexandre de A Antunes, Antonio C Pastorino, et al.Cytogenetic and Genome Research|September 26, 2016
Subtelomeric Copy Number Variations: The Importance of 4p/4q Deletions in Patients with Congenital Anomalies and Developmental DisabilityGil M Novo-Filho, Marília M Montenegro, Évelin A Zanardo, et al.The Journal of Molecular Diagnostics : JMD|June 5, 2020
Application of Whole-Exome Sequencing in Detecting Copy Number Variants in Patients with Developmental Delay and/or Multiple Congenital MalformationsÉvelin A Zanardo, Fabíola P Monteiro, Samar N Chehimi, et al.Molecular Genetics & Genomic Medicine|October 1, 2019
Breakpoint delineation in 5p- patients leads to new insights about microcephaly and the typical high-pitched crySamar N Chehimi, Évelin A Zanardo, José R M Ceroni, et al.Cytogenetic and Genome Research|April 2, 2019
Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell LinesYanca Gasparini, Marília M Montenegro, Gil M Novo-Filho, et al.Pageof 5