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American Journal of Medical Genetics. Part A
|
August 18, 2021
Twenty-year follow-up of the facial phenotype of Brazilian patients with Sotos syndrome
Matheus Augusto Araújo Castro, Juliana Heather Vedovato Dos Santos, Rachel Sayuri Honjo, et al.
Molecular Genetics and Genomics : MGG
|
July 3, 2014
Complex structural rearrangement features suggesting chromoanagenesis mechanism in a case of 1p36 deletion syndrome
Évelin Aline Zanardo, Flavia Balbo Piazzon, Roberta Lelis Dutra, et al.
Journal of Human Genetics
|
July 7, 2021
Novel CLTC variants cause new brain and kidney phenotypes
Toshiyuki Itai, Satoko Miyatake, Naomi Tsuchida, 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 behavior
Roberta L Dutra, Flavia B Piazzon, Évelin A Zanardo, et al.
American Journal of Medical Genetics. Part A
|
October 29, 2021
Cardiovascular findings in Williams-Beuren Syndrome: Experience of a single center with 127 cases
Rachel Sayuri Honjo, Vanessa Figueiredo Monteleone, Vera Demarchi Aiello, et al.
Journal of Pediatric Genetics
|
November 6, 2019
Clinical Characterization of Mucolipidoses II and III: A Multicenter Study
Taciane Alegra, Fernanda Sperb-Ludwig, Nicole Ruas Guarany, et al.
Human Genetics
|
January 11, 2019
Downregulation of genes outside the deleted region in individuals with 22q11.2 deletion syndrome
Anelisa Gollo Dantas, Marcos Leite Santoro, Natalia Nunes, et al.
Jornal De Pediatria
|
January 5, 2024
Brazilian growth charts for Williams-Beuren Syndrome at ages 2 to 18 years
Amanda de Sousa Lima Strafacci, Fabio Bertapelli, Chong Ae Kim, et al.
BMC Ophthalmology
|
October 14, 2025
Ophthalmological findings in Brazilian Cornelia de Lange syndrome patients with NIPBL variants
Thainá Vilella, Beatriz Carvalho Nunes, Giulia Steuernagel Del Valle, et al.
Clinics (Sao Paulo, Brazil)
|
July 5, 2018
Natural history of 39 patients with Achondroplasia
Jose Ricardo Magliocco Ceroni, Diogo Cordeiro de Queiroz Soares, Larissa de Cássia Testai, et al.
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Search research articles
Search
Showing results (71-80 of 150) with videos related to
Sort By:
Page
of 15
American Journal of Medical Genetics. Part A
|
August 18, 2021
Twenty-year follow-up of the facial phenotype of Brazilian patients with Sotos syndrome
Matheus Augusto Araújo Castro, Juliana Heather Vedovato Dos Santos, Rachel Sayuri Honjo, et al.
Molecular Genetics and Genomics : MGG
|
July 3, 2014
Complex structural rearrangement features suggesting chromoanagenesis mechanism in a case of 1p36 deletion syndrome
Évelin Aline Zanardo, Flavia Balbo Piazzon, Roberta Lelis Dutra, et al.
Journal of Human Genetics
|
July 7, 2021
Novel CLTC variants cause new brain and kidney phenotypes
Toshiyuki Itai, Satoko Miyatake, Naomi Tsuchida, 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 behavior
Roberta L Dutra, Flavia B Piazzon, Évelin A Zanardo, et al.
American Journal of Medical Genetics. Part A
|
October 29, 2021
Cardiovascular findings in Williams-Beuren Syndrome: Experience of a single center with 127 cases
Rachel Sayuri Honjo, Vanessa Figueiredo Monteleone, Vera Demarchi Aiello, et al.
Journal of Pediatric Genetics
|
November 6, 2019
Clinical Characterization of Mucolipidoses II and III: A Multicenter Study
Taciane Alegra, Fernanda Sperb-Ludwig, Nicole Ruas Guarany, et al.
Human Genetics
|
January 11, 2019
Downregulation of genes outside the deleted region in individuals with 22q11.2 deletion syndrome
Anelisa Gollo Dantas, Marcos Leite Santoro, Natalia Nunes, et al.
Jornal De Pediatria
|
January 5, 2024
Brazilian growth charts for Williams-Beuren Syndrome at ages 2 to 18 years
Amanda de Sousa Lima Strafacci, Fabio Bertapelli, Chong Ae Kim, et al.
BMC Ophthalmology
|
October 14, 2025
Ophthalmological findings in Brazilian Cornelia de Lange syndrome patients with NIPBL variants
Thainá Vilella, Beatriz Carvalho Nunes, Giulia Steuernagel Del Valle, et al.
Clinics (Sao Paulo, Brazil)
|
July 5, 2018
Natural history of 39 patients with Achondroplasia
Jose Ricardo Magliocco Ceroni, Diogo Cordeiro de Queiroz Soares, Larissa de Cássia Testai, et al.
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of 15