[Waardenburg's syndrome. Different clinical manifestations in one family]

mRNA-based detection of rare CFTR mutations improves genetic diagnosis of cystic fibrosis in populations with high genetic heterogeneity.

Clinical genetics·2016

Bacterial transfer of large functional genomic DNA into human cells.

Gene therapy·2005

Maternal effect: an additional mechanism maintaining balanced polymorphisms of haemoglobinopathies?

Annals of human genetics·2003

[Community genetics and hemophilia in a Brazilian population].

Cadernos de saude publica·2001

A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25.

Journal of medical genetics·2000

[Genetico-epidemiological and molecular investigation of G-6-PD deficiency in a Brazilian community].

Cadernos de saude publica·2000

[Graduate course at the Faculdade de Medicina de Botucatu-UNESP: survey among former students].

AMB : revista da Associacao Medica Brasileira·1991

[Liver transplantation in children: initial experience of the Instituto da Criança of the Hospital das Clínicas of Universidade de São Paulo].

AMB : revista da Associacao Medica Brasileira·1991

[Incidence of primary benign and malignant neoplasms and bone pseudotumoral lesions. An epidemiologic analysis of 585 cases diagnosed at the Faculdade de Medicina of the Universidade Federal de Minas Gerais].

AMB : revista da Associacao Medica Brasileira·1991

[Differential diagnosis of cholestasis in pancreatic cancer and chronic pancreatitis].

AMB : revista da Associacao Medica Brasileira·1991

[Fever and neutropenia in children with cancer: a new therapeutic proposal].

AMB : revista da Associacao Medica Brasileira·1991

[Prevalence of vesicular lithiasis in hospitalized patients in Curitiba: ultrasonographic evaluation].

AMB : revista da Associacao Medica Brasileira·1991

Correlation of whole-body fat content and its distribution with lumbar fat content under different age, gender and BMI conditions: quantitative analysis of MRI based on deep learning.

BMC musculoskeletal disorders·2026

Early lineage divergence segregates sensory and motor-associative identities in the thalamus.

Nature neuroscience·2026

Familial 46,XX Ovotesticular Differences in Sex Development Associated With an NR5A1 p.Arg92Trp Variant.

Hormone research in paediatrics·2026

Deciphering male lineages: a comprehensive analysis of Y chromosome markers in the Panjin Han population.

Annals of human biology·2026

INSL3: an informative testis biomarker for assessing the HPG axis in men.

Frontiers in endocrinology·2026

Delayed diagnosis of familial glucocorticoid deficiency type 4 in a child with epilepsy: a case report and literature review.

Journal of pediatric endocrinology & metabolism : JPEM·2026

Related Experiment Videos

[Waardenburg's syndrome. Different clinical manifestations in one family]

Related Concept Videos

mRNA-based detection of rare CFTR mutations improves genetic diagnosis of cystic fibrosis in populations with high genetic heterogeneity.

Bacterial transfer of large functional genomic DNA into human cells.

Maternal effect: an additional mechanism maintaining balanced polymorphisms of haemoglobinopathies?

[Community genetics and hemophilia in a Brazilian population].

A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25.

[Genetico-epidemiological and molecular investigation of G-6-PD deficiency in a Brazilian community].

[Graduate course at the Faculdade de Medicina de Botucatu-UNESP: survey among former students].

[Liver transplantation in children: initial experience of the Instituto da Criança of the Hospital das Clínicas of Universidade de São Paulo].

[Incidence of primary benign and malignant neoplasms and bone pseudotumoral lesions. An epidemiologic analysis of 585 cases diagnosed at the Faculdade de Medicina of the Universidade Federal de Minas Gerais].

[Differential diagnosis of cholestasis in pancreatic cancer and chronic pancreatitis].

[Fever and neutropenia in children with cancer: a new therapeutic proposal].

[Prevalence of vesicular lithiasis in hospitalized patients in Curitiba: ultrasonographic evaluation].

Correlation of whole-body fat content and its distribution with lumbar fat content under different age, gender and BMI conditions: quantitative analysis of MRI based on deep learning.

Early lineage divergence segregates sensory and motor-associative identities in the thalamus.

Familial 46,XX Ovotesticular Differences in Sex Development Associated With an NR5A1 p.Arg92Trp Variant.

Deciphering male lineages: a comprehensive analysis of Y chromosome markers in the Panjin Han population.

INSL3: an informative testis biomarker for assessing the HPG axis in men.

Delayed diagnosis of familial glucocorticoid deficiency type 4 in a child with epilepsy: a case report and literature review.

Related Experiment Videos

[Waardenburg's syndrome. Different clinical manifestations in one family]

Related Concept Videos

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