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kw.\*:("Rhizomelic chondrodysplasia")

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Rhizomelic Chrondrodysplasia Punctata Type 2 Resulting From Paternal Isodisomy of Chromosome 1NIMMO, Graeme; MONSONEGO, Sarah; DESCARTES, Maria et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 7, pp 1812-1817, issn 1552-4825, 6 p.Article

PEROXISOME BIOGENESIS DISORDERS: BIOLOGICAL, CLINICAL AND PATHOPHYSIOLOGICAL PERSPECTIVESBRAVERMAN, Nancy E; DANIELA D'AGOSTINO, Maria; MACLEAN, Gillian E et al.Developmental disabilities research reviews. 2013, Vol 17, Num 3-4, pp 187-196, issn 1940-5510, 10 p.Article

Delayed myelination in a rhizomelic chondrodysplasia punctata case: MR spectroscopy findingsALKAN, Alpay; KUTLU, Ramazan; YAKINCI, Cengiz et al.Magnetic resonance imaging. 2003, Vol 21, Num 1, pp 77-80, issn 0730-725X, 4 p.Article

Autosomal-recessive omodysplasia : Prenatal diagnosis and histomorphometric assessment of the physeal plates of the long bonesBOROCHOWITZ, Z; SABO, E; MISSELEVITCH, I et al.American journal of medical genetics. 1998, Vol 76, Num 3, pp 238-244, issn 0148-7299Article

Prenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata by detection of rhizomelic shortening and bilateral cataractsBASBUZ, Mustafa; IBRAHIM SERDAR SERIN; ÖZCELIK, Bülent et al.Fetal diagnosis and therapy. 2005, Vol 20, Num 3, pp 171-174, issn 1015-3837, 4 p.Article

Second trimester prenatal diagnosis of rhizomelic chondrodysplasia punctata type 1 on ultrasound findingsZWIJNENBUR, P. J. G; DEURLOO, K. L; WATERHAM, H. R et al.Prenatal diagnosis. 2010, Vol 30, Num 2, pp 162-164, issn 0197-3851, 3 p.Article

Gas chromatography/mass spectrometry analysis of very long chain fatty acids, docosahexaenoic acid, phytanic acid and plasmalogen for the screening of peroxisomal disordersTAKEMOTO, Yasuhiko; SUZUKI, Yasuyuki; HORIBE, Ryoko et al.Brain & development (Tokyo. 1979). 2003, Vol 25, Num 7, pp 481-487, issn 0387-7604, 7 p.Article

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