| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel–Gruber syndrome
|
Auber, B
|
|
2007
|
72 |
5 |
p. 454-459
|
artikel
|
| 2 |
A novel DFNA5 mutation, IVS8+4 A>G, in the splice donor site of intron 8 causes late-onset non-syndromic hearing loss in a Chinese family
|
Cheng, J
|
|
2007
|
72 |
5 |
p. 471-477
|
artikel
|
| 3 |
Characterization of de novo microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridization
|
Brunetti-Pierri, N
|
|
2007
|
72 |
5 |
p. 411-419
|
artikel
|
| 4 |
Colorectal cancer survivors undergoing genetic testing for hereditary non-polyposis colorectal cancer: motivational factors and psychosocial functioning
|
Esplen, MJ
|
|
2007
|
72 |
5 |
p. 394-401
|
artikel
|
| 5 |
Crouzon with acanthosis nigricans. Further delineation of the syndrome
|
Arnaud-López, L
|
|
2007
|
72 |
5 |
p. 405-410
|
artikel
|
| 6 |
Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome
|
Engenheiro, E
|
|
2007
|
72 |
5 |
p. 464-470
|
artikel
|
| 7 |
Cytogenetic and molecular characterization of the derivative Y chromosome: a case study of an azoospermic patient
|
Roovere, T
|
|
2007
|
72 |
5 |
p. 460-463
|
artikel
|
| 8 |
DMPK-associated myotonic dystrophy and CTG repeats in Alabama African Americans
|
Acton, RT
|
|
2007
|
72 |
5 |
p. 448-453
|
artikel
|
| 9 |
Formalin-fixed paraffin-embedded clinical tissues show spurious copy number changes in array-CGH profiles
|
Mc Sherry, EA
|
|
2007
|
72 |
5 |
p. 441-447
|
artikel
|
| 10 |
Genetics of Noonan syndrome – a new gene, and the search is still on
|
Stein, RA
|
|
2007
|
72 |
5 |
p. 402-404
|
artikel
|
| 11 |
GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease
|
Caroli, F
|
|
2007
|
72 |
5 |
p. 427-433
|
artikel
|
| 12 |
Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia
|
Watts, GDJ
|
|
2007
|
72 |
5 |
p. 420-426
|
artikel
|
| 13 |
Pallister–Killian syndrome: tetrasomy of 12pter→12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome
|
Huang, X-L
|
|
2007
|
72 |
5 |
p. 434-440
|
artikel
|
| 14 |
Parkin polymorphisms: risk for Parkinson’s disease in Indian population
|
|
|
2007
|
72 |
5 |
p. 484-486
|
artikel
|
| 15 |
Prenatal diagnosis of Miller-Dieker syndrome by ultrasound and molecular cytogenetic analysis
|
|
|
2007
|
72 |
5 |
p. 487-489
|
artikel
|
| 16 |
TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population
|
Suphapeetiporn, K
|
|
2007
|
72 |
5 |
p. 478-483
|
artikel
|
| 17 |
The homozygous deletion of the 3′ enhancer of the SHOX gene causes Langer mesomelic dysplasia
|
|
|
2007
|
72 |
5 |
p. 490-491
|
artikel
|
| 18 |
The role of common genetic risk variants in Parkinson disease
|
Tan, E-K
|
|
2007
|
72 |
5 |
p. 387-393
|
artikel
|
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