Gonadal dysgenesis and tumors: genetic and clinical features [PDF]
, 2005 Gonadal dysgenesis comprises a clinical spectrum of anomalies in patients with female, ambiguous or male phenotype, absent or impaired puberty and karyotype with or without Y chromosome and/or chromosome markers.
Bianco, Bianca Alves Vieira +2 more
core +3 more sources
SINDROME DE PARSONAGE-TURNER O NEURITIS BRAQUIAL: A PROPOSITO DE DOS CASOS CLINICOS
Revista Chilena de Radiología, 2003 Se presentan dos casos clínicos de neuritis braquial (síndrome de Parsonage-Turner). Se discuten los aspectos clínicos y los hallazgos en resonancia magnética destacando el valor de ésta en su diagnósticoTwo cases of Parsonage-Turner syndrome are ...
Luis Muse R, Oscar Contreras O
doaj
Disgenésis ovárica, variedad no turner con eunucoidismo
Revista Colombiana de Obstetricia y Ginecología, 1965 Desde que Henry Turner, 1; en 1938 describió el síndrome que lleva su nombre, caracterizado por infantilismo sexual, cuello en trapecio y cubitus valgus han aparecido sinnúmero de sinónimos.
Fernando del Corral +3 more
doaj +1 more source
Learning to read in regular and special schools: a follow up study of students with Down Syndrome [PDF]
, 2015 In 2006, a questionnaire was sent to 160 parents of children with Down syndrome in Dutch primary education (special and regular) with a response rate of 76%.
De graaf, Gert, Van Hove, Geert
core
How patients remember when they were given the diagnosis. About fifteen testimonies related to rare diseases [PDF]
, 2014 Doctor-patient communication has led, in recent years, great interest among the health community. Communicating the diagnosis is one of the key moments for people suffering an illness.
Arcos Urrutia, Juan Manuel +2 more
core +2 more sources
Turner syndrome, unicuspid aortopathy, and pregnancy: Difficult decisions for complex scenarios. [PDF]
Arch Cardiol Mex, 2021 Martín M +5 more
europepmc +1 more source
Estudo clínico, citogenético e molecular da síndrome do X frágil. [PDF]
, 1999 Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Departamento de Clínica Médica, Curso de Medicina, Florianópolis ...
Lora, Fabiana Ligia
core
The Genetic Bases of Type 2 Diabetes Mellitus [PDF]
, 2002 The pathogenesis of type 2 diabetes mellitus (T2DM) is complex, but it is secondary to a combination of insulin resistance and pancreatic beta-cell dysfunction that manifests itself as inadequate insulin secretion in the face of hyperglycemia.
Reis, André Fernandes, Velho, Gilberto
core +2 more sources
Partial anomolous pulmonary venous connection with 6 pulmonary veins in an patient with Turner syndrome and coments [PDF]
Arch Cardiol Mex, 2022 De Rubens-Figueroa J +2 more
europepmc +1 more source
Pubertad precoz y retraso puberal [PDF]
, 2011 La edad en que la pubertad se inicia es muy variable y, en condiciones normales, está infl uenciada, además de por el sexo, por factores genéticos y ambientales.
Muñoz Calvo, María Teresa +1 more
core +1 more source