36 documents found, page 1 of 4
Cardiovascular findings in Williams-Beuren Syndrome: Experience of a single cen...
Kim, Chong Ae
Biochemical profile in an infant with neonatal hemochromatosis shows evidence o...
Kim, Chong Ae
Downregulation of genes outside the deleted region in individuals with 22q11.2 ...
Kim, Chong Ae
Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines
Kim, Chong Ae
Comprehensive genetic analysis of 57 families with clinically suspected Corneli...
Kim, Chong Ae
Autosomal-recessive mutations in MESD cause osteogenesis imperfecta
Kim, Chong Ae
Clinical and radiological findings in Brazilian patients with mucolipidosis typ...
Kim, Chong Ae
Associations between fetal testosterone and pro–social tendencies, anxiety and ...
Osório, Ana Alexandra Caldas; do Egito, Júlia Horta Tabosa; Martins, Gabriela Carneiro; Kim, Chong Ae; Honjo, Rachel Sayuri; Sampaio, AdrianaObjective: Fetal testosterone (fT) has organizational effects on the developing human nervous system and can be reliably estimated by the ratio between the length of the second and fourth digits — 2D:4D. Previous studies reported altered patterns of fT in some developmental disabilities (e.g. ASD) relative to typically developing individuals (TD). Williams syndrome (WS) is a rare genetic disorder characterized ...
Natural history of 39 patients with Achondroplasia
Ceroni, Jose Ricardo Magliocco; Soares, Diogo Cordeiro de Queiroz; Testai, Larissa de Cássia; Kawahira, Rachel Sayuri Honjo; Yamamoto, Guilherme LopesOBJECTIVES: To characterize the natural history of 39 achondroplastic patients diagnosed by clinical, radiological and molecular assessments. METHODS: Observational and retrospective study of 39 patients who were attended at a public tertiary level hospital between 1995 and 2016. RESULTS: Diagnosis was made prenatally in 11 patients, at birth in 9 patients and within the first year of life in 13 patients. The m...
Cognitive and behavioral profile of Williams Syndrome toddlers
Kim, Chong Ae