Digitale Bibliotheek
Sluiten Bladeren door artikelen uit een tijdschrift
 
Zoeken naar met titel:
ABCDEFGHIJKLMNOPQRSTUVWXYZ

     Tijdschrift beschrijving
       Alle jaargangen van het bijbehorende tijdschrift
         Alle afleveringen van het bijbehorende jaargang
                                       Alle artikelen van de bijbehorende aflevering
 
                             55 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 A constitutional translocation t(1;4)(p21;p15) in a case of chronic lymphocytic leukemia Eclache, Virginie
 2002
 4 p. 169-171
3 p.
 artikel
2 A family with two different chromosomal translocations Ozkul, Y.
 2002
 4 p. 185-187
3 p.
 artikel
3 A rare case: mosaic trisomy 22 Basaran, Nurettin
 2001
 4 p. 183-186
4 p.
 artikel
4 A submicroscopic unbalanced subtelomeric translocation t(2p;10q) identified by fluorescence in situ hybridization: fetus with increased nuchal translucency and normal standard karyotype with later growth and developmental delay, rhombencephalosynapsis (RES) Lespinasse, J.
 2004
 4 p. 405-417
13 p.
 artikel
5 A Turner patient with a 45,X,t(1;2) (q41;p11.2) karyotype Ozkul, Yusuf
 2002
 4 p. 181-183
3 p.
 artikel
6 Auricular mild errors of morphogenesis: epidemiological study with application of a targeted computer program Grun, Marta
 2002
 4 p. 207-212
6 p.
 artikel
7 Author index 2003
 4 p. I-
1 p.
 artikel
8 Author index 2001
 4 p. 219-220
2 p.
 artikel
9 Author index 2004
 4 p. 439-441
3 p.
 artikel
10 Chromosome studies of in vitro senescent lymphocytes: nonrandom trisomy 2 Busson-Le Coniat, Maryvonne
 2002
 4 p. 193-196
4 p.
 artikel
11 Contribution of ultrasonographic examination to the prenatal detection of chromosomal abnormalities in 19 centres across Europe De Vigan, C
 2001
 4 p. 209-217
9 p.
 artikel
12 Contribution of ultrasonographic examination to the prenatal detection of trisomy 21: experience from 19 European registers Wellesley, D.
 2004
 4 p. 373-380
8 p.
 artikel
13 “Cri-du-chat” syndrome in a patient born to a mother with a paracentric inversion of chromosome 5q Bourthoumieu, Sylvie
 2003
 4 p. 483-486
4 p.
 artikel
14 Cryptic translocations involving chromosome 20 in polycythemia vera Busson, Maryvonne
 2004
 4 p. 365-371
7 p.
 artikel
15 CV2 Editorial Board redaction 2004
 4 p. IFC-
1 p.
 artikel
16 Deletion screening by fluorescence in situ hybridization in Rett syndrome patients Bourdon, Violaine
 2001
 4 p. 191-194
4 p.
 artikel
17 Del Xq23 in a Mosaic Turner Female: Molecular and Cytogenetic Studies Mesa-Cornejo, Viviana Matilde
 2001
 4 p. 171-174
4 p.
 artikel
18 De novo balanced translocation (2;10)(q24;q22) associated with mental retardation Santos, Cíntia Barros
 2003
 4 p. 471-473
3 p.
 artikel
19 Distal trisomy 14 (q24 → qter) and aorto-pulmonary window: a case report and review of the literature Perrin, Yannick
 2002
 4 p. 173-175
3 p.
 artikel
20 DNA polymorphism analysis of candidate genes for type 2 diabetes mellitus in a Mexican ethnic group Flores-Martínez, S.E.
 2004
 4 p. 339-348
10 p.
 artikel
21 Duane anomaly, congenital myopathy and severe scoliosis in sibs: new AR syndrome? Verloes, Alain
 2003
 4 p. 449-452
4 p.
 artikel
22 Duplication 8 〚inv dup(8)(p12p23)〛 with macrocephaly Tonk, Vijay S.
 2001
 4 p. 195-199
5 p.
 artikel
23 Effect of 5637 conditioned medium (CM) on the mitotic index in the cytogenetic evaluation of myeloproliferative disorders Gozzetti, Alessandro
 2004
 4 p. 432-434
3 p.
 artikel
24 Familial interstitial deletion of chromosome 4 (p15.2p16.1) Tonk, Vijay S.
 2003
 4 p. 453-458
6 p.
 artikel
25 FISH and PCR analyses in three patients with 45,X/46,X,idic(Y) karyotype: clinical and pathologic spectrum Álvarez-Nava, Francisco
 2003
 4 p. 443-448
6 p.
 artikel
26 Further clinical delineation in trisomy 1q32 syndrome Nuño-Arana, Ismael
 2001
 4 p. 175-177
3 p.
 artikel
27 Genotypic analysis of the TGF beta-509 allele in patients with systemic lupus erythematosus and Sjögren's syndrome Caserta, Tina M.
 2004
 4 p. 359-363
5 p.
 artikel
28 Gerstmann–Sträussler–Scheinker disease with P102L–V129 mutation: a case with psychiatric manifestations at onset Bianca, Marco
 2003
 4 p. 467-469
3 p.
 artikel
29 GM polymorphism and the evolutionary history of modern humans Chaabani, Hassen
 2002
 4 p. 197-206
10 p.
 artikel
30 Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family Wollnik, Bernd
 2002
 4 p. 213-217
5 p.
 artikel
31 In memoriam : Jean de Grouchy, 1926–2003 Turleau, Catherine
 2004
 4 p. 435-437
3 p.
 artikel
32 Intranuclear arrangement of human chromosome 12 is reflected in metaphase chromosomes as non-random bending Plaja, A.
 2004
 4 p. 429-432
4 p.
 artikel
33 Isolated congenital anonychia cases with coincident chromosomal fragility Özyazgan, İrfan
 2004
 4 p. 381-386
6 p.
 artikel
34 Keyword index 2003
 4 p. III-IV
nvt p.
 artikel
35 Keyword index 2001
 4 p. 221-224
4 p.
 artikel
36 Keyword index 2004
 4 p. 443-450
8 p.
 artikel
37 Large duplication 4q25–q34 with mild clinical effect Elghezal, Hatem
 2004
 4 p. 419-422
4 p.
 artikel
38 Limb reduction defects in the first generation and deafness in the second generation of intrauterine exposed fetuses to diethylstilbestrol Stoll, C.
 2003
 4 p. 459-465
7 p.
 artikel
39 Non-lethal Hallermann–Streiff syndrome with bone fracture: report of a case Ertekin, Vildan
 2004
 4 p. 387-391
5 p.
 artikel
40 Partial trisomy 8q and partial monosomy 18p: a case report Puvabanditsin, S.
 2004
 4 p. 399-403
5 p.
 artikel
41 Partial trisomy 18q11.2→qter due to de novo unbalanced translocation of chromosomes 15 and 18 analyzed by fluorescence in situ hybridization Semerci, C.Nur
 2004
 4 p. 393-398
6 p.
 artikel
42 Paternal reciprocal translocation t(11;16)(p13;q24.3) in a Silver–Russel syndrome patient Rao, Vundinti Babu
 2003
 4 p. 475-478
4 p.
 artikel
43 18p deletion syndrome with a 45, XY, t (14; 18) (p11;q11.2), -18, karyotype Babu Rao, Vunditi
 2001
 4 p. 187-190
4 p.
 artikel
44 Prevalence of C282Y and H63D mutations in the haemochromatosis (HFE) gene in Tunisian population Sassi, R.
 2004
 4 p. 325-330
6 p.
 artikel
45 Risk factors in congenital abdominal wall defects (omphalocele and gastroschisi): a study in a series of 265 858 consecutive births Stoll, C.
 2001
 4 p. 201-208
8 p.
 artikel
46 Screening for mutations in the gene for phosphorylation kinase γ1 in Silver–Russell syndrome patients Mavany, Miriam
 2002
 4 p. 219-221
3 p.
 artikel
47 Second trimester prenatal diagnosis of epignathus teratoma in ring X chromosome mosaicism with inactive ring X chromosome Witters, Ingrid
 2001
 4 p. 179-182
4 p.
 artikel
48 Tetraploid/diploid mosaicism: case report and review of the literature Alonso, Luís
 2002
 4 p. 177-180
4 p.
 artikel
49 The history of cytogenetics Portraits of some pioneers ♢ 1 Translated Gilgenkrantz, S
 2003
 4 p. 433-442
10 p.
 artikel
50 The peptide nucleic acids (PNAs): a new generation of probes for genetic and cytogenetic analyses Paulasova, Petra
 2004
 4 p. 349-358
10 p.
 artikel
51 Trisomy 4 associated with double minute chromosomes and MYC amplification in acute myeloblastic leukemia Receveur, Aline
 2004
 4 p. 423-427
5 p.
 artikel
52 Two 48,XXYY patients: clinical, cytogenetic and molecular aspects Zelante, L
 2003
 4 p. 479-481
3 p.
 artikel
53 Use of two FISH probes provides a cost-effective, simple protocol to exclude an imprinting centre defect in routine laboratory testing for suspected Prader–Willi and Angelman syndrome Smith, Arabella
 2002
 4 p. 189-191
3 p.
 artikel
54 Y chromosome micro-deletions in idiopathic infertility from Northern India Mittal, Rama Devi
 2004
 4 p. 331-337
7 p.
 artikel
55 Y-chromosome mosaicism with ring Y-chromosome/idic(Y)(p11.2) and “normal” ovarian development Fryns, J.P
 2001
 4 p. 169-
1 p.
 artikel
                             55 gevonden resultaten
 
 Koninklijke Bibliotheek - Nationale Bibliotheek van Nederland