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Ophthalmic Genetics
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August 19, 2017
Multimodal image analysis of the retina in Hunter syndrome (mucopolysaccharidosis type II): Case report
Isadora Darriba Macedo Salvucci, Simone Finzi, Maria Kiyoko Oyamada, et al.
International Archives of Otorhinolaryngology
|
October 28, 2024
Audiological Characterization of Individuals with Cornelia de Lange Syndrome
Nayara Pereira Santos, Liliane Aparecida Fagundes Silva, Ivone Ferreira Neves-Lobo, et al.
Clinical Immunology (Orlando, Fla.)
|
July 20, 2014
NK and B cell deficiency in a MPS type II family with novel mutation in the IDS gene
Leuridan Cavalcante Torres, Diogo Cordeiro de Queiroz Soares, Leslie Domenici Kulikowski, et al.
Scientific Reports
|
April 9, 2025
Cytogenomic characterization of karyotypes with additional autosomal material
Priscila Soares Rodrigues, Bruna Burssed, Fernanda Bellucco, et al.
Journal of Communication Disorders
|
December 14, 2023
Study of the peripheral and central auditory pathways in patients with mucopolysaccharidosis
Flávia Teixeira Chimelo, Liliane Aparecida Fagundes Silva, Ivone Ferreira Neves-Lobo, et al.
Clinics (Sao Paulo, Brazil)
|
May 17, 2007
Williams Syndrome: development of a new scoring system for clinical diagnosis
Sofia Mizuho Miura Sugayama, Cláudio Leone, Maria de Lourdes Lopes Ferrari Chauffaille, et al.
Dermatology (Basel, Switzerland)
|
February 8, 2012
Copy number variations on chromosome 4q26-27 are associated with Cantu syndrome
Mazen Kurban, Chong Ae Kim, Maija Kiuru, et al.
Journal of Human Genetics
|
May 1, 2007
Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene
Débora Romeo Bertola, Alexandre Costa Pereira, Amanda Salem Brasil, et al.
Nature Reviews. Disease Primers
|
June 18, 2021
Williams syndrome
Beth A Kozel, Boaz Barak, Chong Ae Kim, et al.
Human Immunology
|
December 18, 2015
CD4+CD25 high Foxp3+ Treg deficiency in a Brazilian patient with Gaucher disease and lupus nephritis
Marina Cadena Matta, Diogo Cordeiro Soares, Marcelo Soares Kerstenetzky, et al.
Page
of 15
Search research articles
Search
Showing results (11-20 of 150) with videos related to
Sort By:
Page
of 15
Ophthalmic Genetics
|
August 19, 2017
Multimodal image analysis of the retina in Hunter syndrome (mucopolysaccharidosis type II): Case report
Isadora Darriba Macedo Salvucci, Simone Finzi, Maria Kiyoko Oyamada, et al.
International Archives of Otorhinolaryngology
|
October 28, 2024
Audiological Characterization of Individuals with Cornelia de Lange Syndrome
Nayara Pereira Santos, Liliane Aparecida Fagundes Silva, Ivone Ferreira Neves-Lobo, et al.
Clinical Immunology (Orlando, Fla.)
|
July 20, 2014
NK and B cell deficiency in a MPS type II family with novel mutation in the IDS gene
Leuridan Cavalcante Torres, Diogo Cordeiro de Queiroz Soares, Leslie Domenici Kulikowski, et al.
Scientific Reports
|
April 9, 2025
Cytogenomic characterization of karyotypes with additional autosomal material
Priscila Soares Rodrigues, Bruna Burssed, Fernanda Bellucco, et al.
Journal of Communication Disorders
|
December 14, 2023
Study of the peripheral and central auditory pathways in patients with mucopolysaccharidosis
Flávia Teixeira Chimelo, Liliane Aparecida Fagundes Silva, Ivone Ferreira Neves-Lobo, et al.
Clinics (Sao Paulo, Brazil)
|
May 17, 2007
Williams Syndrome: development of a new scoring system for clinical diagnosis
Sofia Mizuho Miura Sugayama, Cláudio Leone, Maria de Lourdes Lopes Ferrari Chauffaille, et al.
Dermatology (Basel, Switzerland)
|
February 8, 2012
Copy number variations on chromosome 4q26-27 are associated with Cantu syndrome
Mazen Kurban, Chong Ae Kim, Maija Kiuru, et al.
Journal of Human Genetics
|
May 1, 2007
Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene
Débora Romeo Bertola, Alexandre Costa Pereira, Amanda Salem Brasil, et al.
Nature Reviews. Disease Primers
|
June 18, 2021
Williams syndrome
Beth A Kozel, Boaz Barak, Chong Ae Kim, et al.
Human Immunology
|
December 18, 2015
CD4+CD25 high Foxp3+ Treg deficiency in a Brazilian patient with Gaucher disease and lupus nephritis
Marina Cadena Matta, Diogo Cordeiro Soares, Marcelo Soares Kerstenetzky, et al.
Page
of 15