| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A clinical algorithm for efficient, high-resolution cytogenomic analysis of uncultured perinatal tissue samples
|
Morgen, Eric K.
|
|
2012
|
|
8-9 |
p. 446-454
9 p.
|
artikel
|
| 2 |
A further contribution to the delineation of the 17q21.31 microdeletion syndrome: Central nervous involvement in two Italian patients
|
Terrone, Gaetano
|
|
2012
|
|
8-9 |
p. 466-471
6 p.
|
artikel
|
| 3 |
A novel chondroectodermal dysplasia mapped to chromosome 2q24.1-q31.1
|
Khan, Bushra
|
|
2012
|
|
8-9 |
p. 455-460
6 p.
|
artikel
|
| 4 |
Broadening the phenotype associated with mutations in UPF3B: Two further cases with renal dysplasia and variable developmental delay
|
Lynch, Sally Ann
|
|
2012
|
|
8-9 |
p. 476-479
4 p.
|
artikel
|
| 5 |
Chromosomal microarray analysis of functional Xq27-qter disomy and deletion 3p26.3 in a boy with Prader–Willi like features and hypotonia
|
Ben-Abdallah-Bouhjar, Inesse
|
|
2012
|
|
8-9 |
p. 461-465
5 p.
|
artikel
|
| 6 |
Chromosome 2p15p16.1 microdeletion syndrome: 2.5 Mb deletion in a patient with renal anomalies, intractable seizures and a choledochal cyst
|
Hucthagowder, Vishwanathan
|
|
2012
|
|
8-9 |
p. 485-489
5 p.
|
artikel
|
| 7 |
De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature
|
Becker, Kerstin
|
|
2012
|
|
8-9 |
p. 490-497
8 p.
|
artikel
|
| 8 |
Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes
|
Pauli, Silke
|
|
2012
|
|
8-9 |
p. 480-484
5 p.
|
artikel
|
| 9 |
Oral manifestations of patients with Kenny–Caffey Syndrome
|
Moussaid, Youssra
|
|
2012
|
|
8-9 |
p. 441-445
5 p.
|
artikel
|
| 10 |
Prenatal diagnosis and molecular characterization of a novel locus for Dandy–Walker malformation on chromosome 7p21.3
|
Liao, Can
|
|
2012
|
|
8-9 |
p. 472-475
4 p.
|
artikel
|
| 11 |
Prenatal diagnosis of a 7p15-p21 deletion encompassing the TWIST1 gene involved in Saethre–Chotzen syndrome
|
Spaggiari, Emmanuel
|
|
2012
|
|
8-9 |
p. 498-501
4 p.
|
artikel
|
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