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Progressive scoliosis in central core disease [PDF]

, 2018
Central core disease (CCD) is a rare congenital myopathy with autosomal dominant inheritance. Here, we report on two cases of progressive scoliosis in CCD, pointing out the value of a muscle biopsy to establish the correct diagnosis.
Glatzel, Markus +3 more
core

Congenital anomalies in aborted bovine fetuses in Southern Brazil [PDF]

, 2008
Abortos e mortes neonatais são causas importantes de perdas reprodutivas na bovinocultura. Abortos causados por anomalias congênitas são esporádicos, mas podem ocorrer de forma epidêmica.
Antoniassi, Nadia Aline Bobbi +6 more
core

Restrictive dermopathy with massive thrombosis: a previously uncreognized finding [PDF]

, 2009
Restrictive dermopathy (RD) is a lethal genodermatosis characterized by IUGR, tight and rigid skin, prominent superficial vasculature, epidermal hyperkeratosis, typical facial features, sparse/absent eyelashes and eyebrows, thin dysplastic clavicles ...
Chitayat, D +4 more
core

Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene [PDF]

, 2000
Craen, Margarita +5 more
core +3 more sources

Вроджений Zika синдром [PDF]

, 2017
Zika вірусна інфекція – актуальна проблема сьогодення, що має значні негативні наслідки у вагітних жінок. Вроджений Zika синдром характеризується в першу чергу мікроцефалією, аномаліями розвитку, порушенням зору і слуху.Zika virus infection is among ...
Vyzhga, Iu., Zvenigorodska, G.
core

A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis [PDF]