Digitale Bibliotheek
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                             11 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 A novel mutation in STXBP1 causing epileptic encephalopathy (late onset infantile spasms) with partial respiratory chain complex IV deficiency Barcia, G.
2013
56 12 p. 683-685
3 p.
artikel
2 A rare case of 46, XX SRY-negative male with a ∼74-kb duplication in a region upstream of SOX9 Xiao, Bing
2013
56 12 p. 695-698
4 p.
artikel
3 Craniosynostosis, anal anomalies, and porokeratosis (CDAGS syndrome): Case report and literature review Chouery, Eliane
2013
56 12 p. 674-677
4 p.
artikel
4 De novo deletion of FMN2 in a girl with mild non-syndromic intellectual disability Almuqbil, Mohammed
2013
56 12 p. 686-688
3 p.
artikel
5 Involvement of germline DDX1–MYCN duplication in inherited nephroblastoma Fievet, Alice
2013
56 12 p. 643-647
5 p.
artikel
6 160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker–Warburg syndrome Czeschik, Johanna Christina
2013
56 12 p. 689-694
6 p.
artikel
7 Mutation in CYP27A1 identified in family with coronary artery disease InanlooRahatloo, Kolsoum
2013
56 12 p. 655-660
6 p.
artikel
8 Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities – Support for the role of K(ATP) channels in this condition Brownstein, Catherine A.
2013
56 12 p. 678-682
5 p.
artikel
9 Novel candidate genes for 46,XY gonadal dysgenesis identified by a customized 1 M array-CGH platform Norling, Ameli
2013
56 12 p. 661-668
8 p.
artikel
10 Novel MNX1 mutations and clinical analysis of familial and sporadic Currarino cases Merello, Elisa
2013
56 12 p. 648-654
7 p.
artikel
11 Two novel distinct COL1A2 mutations highlight the complexity of genotype–phenotype correlations in osteogenesis imperfecta and related connective tissue disorders Reuter, Miriam S.
2013
56 12 p. 669-673
5 p.
artikel
                             11 gevonden resultaten
 
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