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NPJ Genomic Medicine
|
March 27, 2026
Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discovery
Li Fu, Chong Ae Kim, Masatoshi Tokita, et al.
Clinical Genetics
|
June 12, 2025
Clinical and Molecular Characterization of Xia-Gibbs Syndrome: Expanding the Phenotypic Spectrum in a Brazilian Cohort
Maísa Ganz Sanchez Sennes, Laura Machado Lara Carvalho, Matheus Augusto Araújo Castro, et al.
Journal of Human Genetics
|
December 17, 2025
Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders
Yukina Hayashi, Kenta Kajiwara, Seiji Mizuno, et al.
American Journal of Human Genetics
|
October 1, 2019
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta
Shahida Moosa, Guilherme L Yamamoto, Lutz Garbes, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
May 7, 2021
Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome
Juliana Alves Josahkian, Ana Carolina Brusius-Facchin, Alice Brinckmann Oliveira Netto, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
July 16, 2021
Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients
Caio Robledo D'Angioli Costa Quaio, Christine Hsiaoyun Chung, Sandro Felix Perazzio, et al.
Genetics and Molecular Biology
|
October 5, 2021
Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases
Caio Robledo D'Angioli Costa Quaio, María José Rivadeneira Obando, Sandro Felix Perazzio, et al.
American Journal of Human Genetics
|
April 16, 2019
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation
Long Guo, Débora Romeo Bertola, Asako Takanohashi, et al.
Genetics and Molecular Biology
|
June 4, 2011
Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment
Roberto Giugliani, Andressa Federhen, Maria Verônica Muñoz Rojas, et al.
Revista Da Associacao Medica Brasileira (1992)
|
August 3, 2010
[Enzyme replacement therapy for mucopolysaccharidoses I, II and VI: recommendations from a group of Brazilian F experts]
Roberto Giugliani, Andressa Federhen, Maria Verónica Muñoz Rojas, et al.
Page
of 15
Search research articles
Search
Showing results (131-140 of 150) with videos related to
Sort By:
Page
of 15
NPJ Genomic Medicine
|
March 27, 2026
Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discovery
Li Fu, Chong Ae Kim, Masatoshi Tokita, et al.
Clinical Genetics
|
June 12, 2025
Clinical and Molecular Characterization of Xia-Gibbs Syndrome: Expanding the Phenotypic Spectrum in a Brazilian Cohort
Maísa Ganz Sanchez Sennes, Laura Machado Lara Carvalho, Matheus Augusto Araújo Castro, et al.
Journal of Human Genetics
|
December 17, 2025
Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders
Yukina Hayashi, Kenta Kajiwara, Seiji Mizuno, et al.
American Journal of Human Genetics
|
October 1, 2019
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta
Shahida Moosa, Guilherme L Yamamoto, Lutz Garbes, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
May 7, 2021
Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome
Juliana Alves Josahkian, Ana Carolina Brusius-Facchin, Alice Brinckmann Oliveira Netto, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
July 16, 2021
Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients
Caio Robledo D'Angioli Costa Quaio, Christine Hsiaoyun Chung, Sandro Felix Perazzio, et al.
Genetics and Molecular Biology
|
October 5, 2021
Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases
Caio Robledo D'Angioli Costa Quaio, María José Rivadeneira Obando, Sandro Felix Perazzio, et al.
American Journal of Human Genetics
|
April 16, 2019
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation
Long Guo, Débora Romeo Bertola, Asako Takanohashi, et al.
Genetics and Molecular Biology
|
June 4, 2011
Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment
Roberto Giugliani, Andressa Federhen, Maria Verônica Muñoz Rojas, et al.
Revista Da Associacao Medica Brasileira (1992)
|
August 3, 2010
[Enzyme replacement therapy for mucopolysaccharidoses I, II and VI: recommendations from a group of Brazilian F experts]
Roberto Giugliani, Andressa Federhen, Maria Verónica Muñoz Rojas, et al.
Page
of 15