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                             12 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 CV2 Editorial Board redaction 2007
50 6 p. IFC-
1 p.
artikel
2 Distal phalangeal creases: More evidence of this feature in disorders of the Ras signaling pathway Allanson, Judith
2007
50 6 p. 482-483
2 p.
artikel
3 Homozygosity for MECP2 gene in a girl with classical Rett syndrome Karall, Daniela
2007
50 6 p. 465-468
4 p.
artikel
4 Influence of the MTHFR genotype on the rate of malformations following exposure to antiepileptic drugs in utero Kini, Usha
2007
50 6 p. 411-420
10 p.
artikel
5 Mother and daughter with a terminal Xp deletion: Implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome Wimplinger, Isabella
2007
50 6 p. 421-431
11 p.
artikel
6 Prenatal diagnosis of mosaicism for 11q terminal deletion Valduga, M.
2007
50 6 p. 475-481
7 p.
artikel
7 Proportional growth failure and oculocutaneous albinism in a girl with a 6.87 Mb deletion of region 15q26.2→qter Poot, Martin
2007
50 6 p. 432-440
9 p.
artikel
8 Pure proximal deletion of chromosome 21 and kyphosis Keren, Boris
2007
50 6 p. 469-474
6 p.
artikel
9 Report of a female patient with mental retardation and tall stature due to a chromosomal rearrangement disrupting the OPHN1 gene on Xq12 Menten, Björn
2007
50 6 p. 446-454
9 p.
artikel
10 Ring chromosome 20 syndrome without deletions of the subtelomeric and CHRNA4–KCNQ2 genes loci Elghezal, Hatem
2007
50 6 p. 441-445
5 p.
artikel
11 Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH Kousoulidou, Ludmila
2007
50 6 p. 399-410
12 p.
artikel
12 Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip–palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24) Callier, P.
2007
50 6 p. 455-464
10 p.
artikel
                             12 gevonden resultaten
 
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