| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Auditory pathology in cri-du-chat (5p-) syndrome: phenotypic evidence for auditory neuropathy
|
Swanepoel, D
|
|
2007
|
72 |
4 |
p. 369-373
|
artikel
|
| 2 |
Combined UGT1A1 and UGT1A7 variant alleles are associated with increased risk of Gilbert’s syndrome in Taiwanese adults
|
Teng, H-C
|
|
2007
|
72 |
4 |
p. 321-328
|
artikel
|
| 3 |
Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss
|
Wagatsuma, M
|
|
2007
|
72 |
4 |
p. 339-344
|
artikel
|
| 4 |
Endocardial cushion defect in a patient with Crouzon syndrome carrying a mutation in the fibroblast growth factor receptor (FGFR)-2 gene
|
Schulz, C
|
|
2007
|
72 |
4 |
p. 305-307
|
artikel
|
| 5 |
Gene dosage influences the age at onset of SCA2 in a family from southern Italy
|
|
|
2007
|
72 |
4 |
p. 381-383
|
artikel
|
| 6 |
Germinal mosaicism in Simpson-Golabi-Behmel syndrome
|
|
|
2007
|
72 |
4 |
p. 384-386
|
artikel
|
| 7 |
Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome
|
Kang, S-HL
|
|
2007
|
72 |
4 |
p. 329-338
|
artikel
|
| 8 |
Insights into the genetics of severe congenital neutropenia
|
Stein, RA
|
|
2007
|
72 |
4 |
p. 308-310
|
artikel
|
| 9 |
Lissencephaly and LIS1: insights into the molecular mechanisms of neuronal migration and development
|
Wynshaw-Boris, A
|
|
2007
|
72 |
4 |
p. 296-304
|
artikel
|
| 10 |
Molecular analysis and long-term clinical evaluation of three siblings with Alström syndrome
|
Özgül, RK
|
|
2007
|
72 |
4 |
p. 351-356
|
artikel
|
| 11 |
Mosaic paternally derived inv dup(15) may partially rescue the Prader–Willi syndrome phenotype with uniparental disomy
|
|
|
2007
|
72 |
4 |
p. 378-380
|
artikel
|
| 12 |
Movement and mood disorder in two brothers with Gaucher disease
|
Raja, M
|
|
2007
|
72 |
4 |
p. 357-361
|
artikel
|
| 13 |
Negative genetic neonatal screening for cystic fibrosis caused by compound heterozygosity for two large CFTR rearrangements
|
|
|
2007
|
72 |
4 |
p. 374-377
|
artikel
|
| 14 |
Non-random maternal X-chromosome inactivation associated with PHACES
|
Levin, JH
|
|
2007
|
72 |
4 |
p. 345-350
|
artikel
|
| 15 |
Pure subtelomeric microduplications as a cause of mental retardation
|
Ruiter, EM
|
|
2007
|
72 |
4 |
p. 362-368
|
artikel
|
| 16 |
Screening for BRCA1 and BRCA2 mutations in Eastern Finnish breast/ovarian cancer families
|
Hartikainen, JM
|
|
2007
|
72 |
4 |
p. 311-320
|
artikel
|
| 17 |
The genetics of mitral valve prolapse
|
Grau, JB
|
|
2007
|
72 |
4 |
p. 288-295
|
artikel
|
| 18 |
The impact of array genomic hybridization on mental retardation research: a review of current technologies and their clinical utility
|
Zahir, F
|
|
2007
|
72 |
4 |
p. 271-287
|
artikel
|
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