about
Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomyMucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment.Identification of familial clustering for cancer through the family health strategy program in the municipality of Angra dos Reis, Rio de Janeiro, Brazil.Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report.A new multicolor fluorescence in situ hybridization probe set directed against human heterochromatin: HCM-FISH.Clinical and Molecular Characterization of Osteogenesis Imperfecta Type V.Sonographic findings in a case of tetrasomy 9p associated with increased nuchal translucency and Dandy-Walker malformation.The Brazilian consensus on the management of Pompe disease.Molecular analysis of holoprosencephaly in South America.Fumaric aciduria: an overview and the first Brazilian case report.Polymorphic markers suggest a gene flow of CFTR gene from Sub-Saharan/Arabian and Mediterranean to Brazilian Population.Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up.Association of Turner's syndrome and hypopituitarism: a patient report.Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis.Molecular analysis of HPRT1(+) somatic cell hybrids derived from a carrier of an HPRT1 mutation responsible for Lesch-Nyhan syndrome.Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI.Respiratory manifestations in late-onset Pompe disease: a case series conducted in Brazil.Spinal cord compression in young children with type VI mucopolysaccharidosis.[Descriptive cross-sectional study of hearing-disabled children at the National Institute for Education of the Deaf in Rio de Janeiro, Brazil].Novel and Recurrent Mutations in the FGFR3 Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia.Cytogenetic and molecular studies of an X;21 translocation previously diagnosed as complete monosomy 21.Apoptosis and expression of anti- and pro-apoptotic proteins in peripheral blood mononuclear cells of Fanconi anaemia patients: a study of 73 cases.A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual DisabilitySevere phenotype in MPS II patients associated with a large deletion including contiguous genesAre MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, X-inactivation analysis and imaging evaluationsPompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutationsCODAS syndrome: a new distinct MCA/MR syndrome with radiological changes of spondyloepiphyseal dysplasia. Another case reportAbdominal ultrasound scan in Down syndrome patients: high frequency of nonsymptomatic biliary tract diseaseFRAXA screening in Brazilian institutionalized individuals with nonspecific severe mental retardationRegarding the Smith-Magenis syndrome multidisciplinary clinical study by Greenberg et al [1996]Bax expression and apoptotic cell death in Fanconi anaemia peripheral blood lymphocytesMedical genetic services in the state of Rio de Janeiro, Brazil[Family and religious traditions present in medical discourses by medical professionals about children with genetic diseases]Microdeletion and microduplication syndromesGAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry
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P50
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Juan Llerena Jr.
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Llerena JC Jr
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Juan Llerena Jr.
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Llerena JC Jr
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Juan C. Llerena Jr.
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Juan Llerena
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Juan Llerena Jr.
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Llerena JC Jr
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