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                             26 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contractures Busche, Andreas
2008
51 6 p. 615-621
7 p.
artikel
2 AKT3 as a candidate gene for corpus callosum anomalies in patients with 1q44 deletions Poot, Martin
2008
51 6 p. 689-690
2 p.
artikel
3 A 12Mb deletion at 7q33–q35 associated with autism spectrum disorders and primary amenorrhea Rossi, Elena
2008
51 6 p. 631-638
8 p.
artikel
4 A 8.26Mb deletion in 6q16 and a 4.95Mb deletion in 20p12 including JAG1 and BMP2 in a patient with Alagille syndrome and Wolff–Parkinson–White syndrome Le Gloan, Laurianne
2008
51 6 p. 651-657
7 p.
artikel
5 A 2.3Mb deletion of 17q24.2–q24.3 associated with ‘Carney Complex plus’ Blyth, Moira
2008
51 6 p. 672-678
7 p.
artikel
6 A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients Kiholm Lund, Ann-Britt
2008
51 6 p. 520-526
7 p.
artikel
7 Array comparative genomic hybridization (aCGH) reveals the largest novel deletion in PCCA found in a Saudi family with propionic acidemia Kaya, Namik
2008
51 6 p. 558-565
8 p.
artikel
8 Clinical and molecular characterization of 40 patients with Noonan syndrome Ferrero, Giovanni Battista
2008
51 6 p. 566-572
7 p.
artikel
9 Clinical variability of the 22q11.2 duplication syndrome Wentzel, Christian
2008
51 6 p. 501-510
10 p.
artikel
10 Complex constitutional subtelomeric 1p36.3 deletion/duplication in a mentally retarded child with neonatal neuroblastoma Isidor, Bertrand
2008
51 6 p. 679-684
6 p.
artikel
11 Cytogenetic and molecular studies of an X;21 translocation previously diagnosed as complete monosomy 21 Cardoso, Leila C.A.
2008
51 6 p. 588-597
10 p.
artikel
12 Deletion 2q36.2q36.3 with multiple renal cysts and severe mental retardation Doco-Fenzy, Martine
2008
51 6 p. 598-607
10 p.
artikel
13 Detection of cryptic subtelomeric imbalances in fetuses with ultrasound abnormalities Faas, Brigitte H.W.
2008
51 6 p. 511-519
9 p.
artikel
14 GATA4 mutations in 486 Chinese patients with congenital heart disease Zhang, Weimin
2008
51 6 p. 527-535
9 p.
artikel
15 IFC - Editorial Board redaction 2008
51 6 p. IFC-
1 p.
artikel
16 Left-ventricular non-compaction (LVNC): A clinical feature more often observed in terminal deletion 1p36 than previously expected Cremer, Kirsten
2008
51 6 p. 685-688
4 p.
artikel
17 M-banding characterization of a 16p11.2p13.1 tandem duplication in a child with autism, neurodevelopmental delay and dysmorphism Behjati, Farkhondeh
2008
51 6 p. 608-614
7 p.
artikel
18 6.7 Mb interstitial duplication in chromosome band 11q24.2q25 associated with infertility, minor dysmorphic features and normal psychomotor development Göhring, Ina
2008
51 6 p. 666-671
6 p.
artikel
19 1.4Mb recurrent 22q11.2 distal deletion syndrome, two new cases expand the phenotype Rødningen, Olaug K.
2008
51 6 p. 646-650
5 p.
artikel
20 Mild mental retardation in a child with a de novo interstitial deletion of 15q21.2q22.1: A comparison with previously described cases Tempesta, Sergio
2008
51 6 p. 639-645
7 p.
artikel
21 Monosomy 19pter and trisomy 19q13-qter in two siblings arising from a maternal pericentric inversion: Clinical data and molecular characterization Schluth-Bolard, Caroline
2008
51 6 p. 622-630
9 p.
artikel
22 Novel EDA mutation resulting in X-linked non-syndromic hypodontia and the pattern of EDA-associated isolated tooth agenesis Han, Dong
2008
51 6 p. 536-546
11 p.
artikel
23 Proximal 15q familial euchromatic variant and PWS/AS critical region duplication in the same patient: A cytogenetic pitfall Carelle-Calmels, Nadège
2008
51 6 p. 547-557
11 p.
artikel
24 Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly Ginocchio, Virginia M.
2008
51 6 p. 658-665
8 p.
artikel
25 T-box transcription factor TBX20 mutations in Chinese patients with congenital heart disease Liu, Caixia
2008
51 6 p. 580-587
8 p.
artikel
26 The changing phenotype in diploid/triploid mosaicism may mimic genetic syndromes with aberrant genomic imprinting: Follow up in a 14-year-old girl Rittinger, Olaf
2008
51 6 p. 573-579
7 p.
artikel
                             26 gevonden resultaten
 
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