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                             9 results found
no title author magazine year volume issue page(s) type
1 CV2 Editorial Board redaction 2007
 50 5 p. IFC-
1 p.
 article
2 Cytogenetic investigation of a child with a mosaic isochromosome 18q and ring 18q Souraty, Noëlle
 2007
 50 5 p. 379-385
7 p.
 article
3 Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia Brun-Heath, Isabelle
 2007
 50 5 p. 367-378
12 p.
 article
4 Immunological abnormalities in CHARGE syndrome Writzl, Karin
 2007
 50 5 p. 338-345
8 p.
 article
5 Mutation screening of the Aristaless-related homeobox (ARX) gene in Thai pediatric patients with delayed development: First report from Thailand Rujirabanjerd, Sinitdhorn
 2007
 50 5 p. 346-354
9 p.
 article
6 Presenting phenotype and clinical evaluation in a cohort of 22 Williams–Beuren syndrome patients Ferrero, Giovanni Battista
 2007
 50 5 p. 327-337
11 p.
 article
7 Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata Hellenbroich, Yorck
 2007
 50 5 p. 392-398
7 p.
 article
8 Screening of subtle copy number changes in Aicardi syndrome patients with a high resolution X chromosome array-CGH Yilmaz, Saliha
 2007
 50 5 p. 386-391
6 p.
 article
9 Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene Bergman, Jorieke E.H.
 2007
 50 5 p. 355-366
12 p.
 article
                             9 results found
 
 Koninklijke Bibliotheek - National Library of the Netherlands