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April 27, 2024
22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity
Melissa Bittencourt de Wallau, Ana Carolina Xavier, Carolina Araújo Moreno, et al.
American Journal of Medical Genetics. Part A
|
August 5, 2025
Blended Phenotypes in Individuals With Rare Diseases: A Brazilian Case Series
Caroline Brandão Piai, Gabriela Yumi Goto Salti, Marcella Cardoso Allegro, et al.
Journal of Medical Genetics
|
March 22, 2015
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome
Guilherme Lopes Yamamoto, Meire Aguena, Monika Gos, et al.
Journal of Community Genetics
|
June 29, 2026
Oncogenetics training in Brazilian medical genetics residency programs: current landscape and challenges
Amaro Freire de Queiroz Júnior, Angelina Xavier Acosta, Carlos Eduardo Steiner, et al.
Journal of Autism and Developmental Disorders
|
December 11, 2022
Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature
Giovanna Cantini Tolezano, Giovanna Civitate Bastos, Silvia Souza da Costa, et al.
Journal of Human Genetics
|
July 25, 2019
Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome
Hiromi Aoi, Takeshi Mizuguchi, José Ricard Ceroni, et al.
BMC Pediatrics
|
August 19, 2022
Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients
Juan Llerena, Chong Ae Kim, Virginia Fano, et al.
Nature Genetics
|
March 8, 2011
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss
Michael A Simpson, Melita D Irving, Esra Asilmaz, et al.
The Journal of Molecular Diagnostics : JMD
|
October 6, 2025
Clinical Utility of Multitissue Genomic Arrays in Diagnosing Pigmentary Mosaicism Associated with Neurodevelopmental Delay
Yanca G Oliveira, Marilia M Montenegro, Vanessa T Almeida, et al.
European Journal of Endocrinology
|
November 22, 2019
Genetic investigation of patients with tall stature
Edoarda Vasco de Albuquerque Albuquerque, Mariana Ferreira de Assis Funari, Elisângela Pereira de Souza Quedas, et al.
Page
of 15
Search research articles
Search
Showing results (101-110 of 150) with videos related to
Sort By:
Page
of 15
Genes
|
April 27, 2024
22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity
Melissa Bittencourt de Wallau, Ana Carolina Xavier, Carolina Araújo Moreno, et al.
American Journal of Medical Genetics. Part A
|
August 5, 2025
Blended Phenotypes in Individuals With Rare Diseases: A Brazilian Case Series
Caroline Brandão Piai, Gabriela Yumi Goto Salti, Marcella Cardoso Allegro, et al.
Journal of Medical Genetics
|
March 22, 2015
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome
Guilherme Lopes Yamamoto, Meire Aguena, Monika Gos, et al.
Journal of Community Genetics
|
June 29, 2026
Oncogenetics training in Brazilian medical genetics residency programs: current landscape and challenges
Amaro Freire de Queiroz Júnior, Angelina Xavier Acosta, Carlos Eduardo Steiner, et al.
Journal of Autism and Developmental Disorders
|
December 11, 2022
Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature
Giovanna Cantini Tolezano, Giovanna Civitate Bastos, Silvia Souza da Costa, et al.
Journal of Human Genetics
|
July 25, 2019
Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome
Hiromi Aoi, Takeshi Mizuguchi, José Ricard Ceroni, et al.
BMC Pediatrics
|
August 19, 2022
Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients
Juan Llerena, Chong Ae Kim, Virginia Fano, et al.
Nature Genetics
|
March 8, 2011
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss
Michael A Simpson, Melita D Irving, Esra Asilmaz, et al.
The Journal of Molecular Diagnostics : JMD
|
October 6, 2025
Clinical Utility of Multitissue Genomic Arrays in Diagnosing Pigmentary Mosaicism Associated with Neurodevelopmental Delay
Yanca G Oliveira, Marilia M Montenegro, Vanessa T Almeida, et al.
European Journal of Endocrinology
|
November 22, 2019
Genetic investigation of patients with tall stature
Edoarda Vasco de Albuquerque Albuquerque, Mariana Ferreira de Assis Funari, Elisângela Pereira de Souza Quedas, et al.
Page
of 15