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Denise Pontes Cavalcanti

Showing results (1-10 of 20) with videos related to

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American Journal of Medical Genetics. Part A|July 29, 2018
Eduardo E. Castilla (1933-2017): El grande TROESMADenise Pontes Cavalcanti
Genetics and Molecular Biology|December 16, 2014
Frequency of the allelic variant c.1150T > C in exon 10 of the fibroblast growth factor receptor 3 (FGFR3) gene is not increased in patients with pathogenic mutations and related chondrodysplasia phenotypesThatiane Yoshie Kanazawa, Luciana Cardoso Bonadia, Denise Pontes Cavalcanti
Arquivos De Neuro-Psiquiatria|July 27, 2004
[Importance of the clinical genetics evaluation on hydrocephalus]Marta Wey-Vieira, Denise Pontes Cavalcanti, Vera Lúcia Gil Silva Lopes
American Journal of Medical Genetics. Part A|December 14, 2006
Fraser and Ablepharon macrostomia phenotypes: concurrence in one family and association with mutated FRAS1Denise Pontes Cavalcanti, Verena Matejas, Daniela Luquetti, et al.
Clinical Dysmorphology|June 15, 2004
Scalp lesions in Turner syndrome: a result of lymphoedema?Mariam Patrícia Auada, Maria Letícia Cintra, Maria Beatriz Puzzi, et al.
American Journal of Medical Genetics. Part A|October 17, 2023
A mesomelic skeletal dysplasia, Kantaputra-like, not related to HOXD cluster region, and with phenotypic gender differencesMaria Dora Jazmin Lacarrubba-Flores, Karina da Costa Silveira, Cynthia Silveira, et al.
European Journal of Human Genetics : EJHG|February 18, 2018
Homozygous deletion in MYL9 expands the molecular basis of megacystis-microcolon-intestinal hypoperistalsis syndromeCarolina Araujo Moreno, Nara Sobreira, Elizabeth Pugh, et al.
European Journal of Medical Genetics|January 24, 2007
Five cases of supernumerary small ring chromosomes 1: heterogeneity and genotype-phenotype correlationLaura Bernardini, Anna Capalbo, Maria Gabriella D'Avanzo, et al.
American Journal of Medical Genetics. Part A|August 3, 2016
Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypesCarolina Araujo Moreno, Konradin Metze, Elizete Aparecida Lomazi, et al.
American Journal of Medical Genetics. Part A|August 3, 2018
Femoral-facial syndrome: A review of the literature and 14 additional patients including a monozygotic discordant twin pairMaria Dora Jazmin Lacarrubba-Flores, Daniel Rocha Carvalho, Erlane Marques Ribeiro, et al.
Pageof 2

Showing results (1-10 of 20) with videos related to

Sort By:
Pageof 2
American Journal of Medical Genetics. Part A|July 29, 2018
Eduardo E. Castilla (1933-2017): El grande TROESMADenise Pontes Cavalcanti
Genetics and Molecular Biology|December 16, 2014
Frequency of the allelic variant c.1150T > C in exon 10 of the fibroblast growth factor receptor 3 (FGFR3) gene is not increased in patients with pathogenic mutations and related chondrodysplasia phenotypesThatiane Yoshie Kanazawa, Luciana Cardoso Bonadia, Denise Pontes Cavalcanti
Arquivos De Neuro-Psiquiatria|July 27, 2004
[Importance of the clinical genetics evaluation on hydrocephalus]Marta Wey-Vieira, Denise Pontes Cavalcanti, Vera Lúcia Gil Silva Lopes
American Journal of Medical Genetics. Part A|December 14, 2006
Fraser and Ablepharon macrostomia phenotypes: concurrence in one family and association with mutated FRAS1Denise Pontes Cavalcanti, Verena Matejas, Daniela Luquetti, et al.
Clinical Dysmorphology|June 15, 2004
Scalp lesions in Turner syndrome: a result of lymphoedema?Mariam Patrícia Auada, Maria Letícia Cintra, Maria Beatriz Puzzi, et al.
American Journal of Medical Genetics. Part A|October 17, 2023
A mesomelic skeletal dysplasia, Kantaputra-like, not related to HOXD cluster region, and with phenotypic gender differencesMaria Dora Jazmin Lacarrubba-Flores, Karina da Costa Silveira, Cynthia Silveira, et al.
European Journal of Human Genetics : EJHG|February 18, 2018
Homozygous deletion in MYL9 expands the molecular basis of megacystis-microcolon-intestinal hypoperistalsis syndromeCarolina Araujo Moreno, Nara Sobreira, Elizabeth Pugh, et al.
European Journal of Medical Genetics|January 24, 2007
Five cases of supernumerary small ring chromosomes 1: heterogeneity and genotype-phenotype correlationLaura Bernardini, Anna Capalbo, Maria Gabriella D'Avanzo, et al.
American Journal of Medical Genetics. Part A|August 3, 2016
Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypesCarolina Araujo Moreno, Konradin Metze, Elizete Aparecida Lomazi, et al.
American Journal of Medical Genetics. Part A|August 3, 2018
Femoral-facial syndrome: A review of the literature and 14 additional patients including a monozygotic discordant twin pairMaria Dora Jazmin Lacarrubba-Flores, Daniel Rocha Carvalho, Erlane Marques Ribeiro, et al.
Pageof 2