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                             14 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 A de novo 7.6Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delay Thiel, Christian T.
2008
51 4 p. 362-367
6 p.
artikel
2 A 5.6-Mb deletion in 15q14 in a boy with speech and language disorder, cleft palate, epilepsy, a ventricular septal defect, mental retardation and developmental delay Chen, Chih-Ping
2008
51 4 p. 368-372
5 p.
artikel
3 A 15Mb duplication of 6q24.1–q25.3 associated with typical but milder features of the duplication 6q syndrome Zweier, Christiane
2008
51 4 p. 358-361
4 p.
artikel
4 A 21 years follow-up of a girl patient with a pseudodicentric bisatellited chromosome 22 associated with partial trisomy 22pter→22q12.1: Clinical, cytogenetic and molecular observations Vaglio, Alicia
2008
51 4 p. 332-342
11 p.
artikel
5 Characterization by array-CGH of an interstitial de novo tandem 6p21.2p22.1 duplication in a boy with epilepsy and developmental delay Andrieux, Joris
2008
51 4 p. 373-381
9 p.
artikel
6 Cryptic trisomy 5q35.2qter and deletion 1p36.3 characterised using FISH and array-based CGH Utine, Eda G.
2008
51 4 p. 343-350
8 p.
artikel
7 Cytogenetic and molecular characterization of a de-novo t(2p;7p) translocation involving TNS3 and EXOC6B genes in a boy with a complex syndromic phenotype Borsani, Giuseppe
2008
51 4 p. 292-302
11 p.
artikel
8 Editorial Board redaction 2008
51 4 p. IFC-
1 p.
artikel
9 Genomic organization and mutation screening of the human ortholog of Pkdr1 associated with polycystic kidney disease in the rat Kaisaki, Pamela J.
2008
51 4 p. 325-331
7 p.
artikel
10 Molecular analysis of Turkish Gaucher disease patients: Identification of novel mutations in glucocerebrosidase (GBA) gene Emre, Serap
2008
51 4 p. 315-321
7 p.
artikel
11 No evidence for isolated imprinting mutations in the PEG1/MEST locus in Silver–Russell patients Schöherr, Nadine
2008
51 4 p. 322-324
3 p.
artikel
12 Patau syndrome with long survival in a case of unusual mosaic trisomy 13 Fogu, Giuseppina
2008
51 4 p. 303-314
12 p.
artikel
13 P35S mutation in the NOG gene associated with Teunissen–Cremers syndrome and features of multiple NOG joint-fusion syndromes Hirshoren, Nir
2008
51 4 p. 351-357
7 p.
artikel
14 The genetic basis of inherited anomalies of the teeth Bailleul-Forestier, Isabelle
2008
51 4 p. 273-291
19 p.
artikel
                             14 gevonden resultaten
 
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