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                             18 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 A new mutation in COG7 extends the spectrum of COG subunit deficiencies Zeevaert, Renate
2009
52 5 p. 303-305
3 p.
artikel
2 An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities Bremer, Anna
2009
52 5 p. 358-362
5 p.
artikel
3 An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions Verheij, J.B.G.M.
2009
52 5 p. 353-357
5 p.
artikel
4 Associated malformations in patients with esophageal atresia Stoll, Claude
2009
52 5 p. 287-290
4 p.
artikel
5 Atypical deletion of 22q11.2: Detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays Beaujard, Marie-Paule
2009
52 5 p. 321-327
7 p.
artikel
6 A 56-year-old female patient with facio-oculo-acoustico-renal syndrome (FOAR) syndrome. Report on the natural history and of a novel mutation Stora, Samantha
2009
52 5 p. 341-343
3 p.
artikel
7 Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene Stattin, Eva-Lena
2009
52 5 p. 297-302
6 p.
artikel
8 Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3 Delahaye, A.
2009
52 5 p. 328-332
5 p.
artikel
9 Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases Schluth-Bolard, Caroline
2009
52 5 p. 291-296
6 p.
artikel
10 CV2 Editorial Board redaction 2009
52 5 p. IFC-
1 p.
artikel
11 C329X in KRIT1 is a founder mutation among CCM patients in Sardinia Cau, Milena
2009
52 5 p. 344-348
5 p.
artikel
12 Familial Sotos syndrome caused by a novel missense mutation, C2175S, in NSD1 and associated with normal intelligence, insulin dependent diabetes, bronchial asthma, and lipedema Zechner, Ulrich
2009
52 5 p. 306-310
5 p.
artikel
13 Germline mutations in the von Hippel–Lindau gene in Italian patients Ciotti, Paola
2009
52 5 p. 311-314
4 p.
artikel
14 MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported Fagali, Claudia
2009
52 5 p. 333-336
4 p.
artikel
15 Molecular genetic screening of MBS1 locus on chromosome 13 for microdeletions and exclusion of FGF9, GSH1 and CDX2 as causative genes in patients with Moebius syndrome Uzumcu, Abdullah
2009
52 5 p. 315-320
6 p.
artikel
16 Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence Koudova, Monika
2009
52 5 p. 337-340
4 p.
artikel
17 3q29 interstitial microdeletion syndrome: An inherited case associated with cardiac defect and normal cognition Li, Feng
2009
52 5 p. 349-352
4 p.
artikel
18 The etiology of congenital diaphragmatic hernia: Still largely unknown? Klaassens, M.
2009
52 5 p. 281-286
6 p.
artikel
                             18 gevonden resultaten
 
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