| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A TNNI2 mutation in a family with distal arthrogryposis type 2B
|
Shrimpton, Antony E.
|
|
2006
|
49 |
2 |
p. 201-206
6 p.
|
artikel
|
| 2 |
CV2 Editorial Board redaction
|
|
|
2006
|
49 |
2 |
p. CO2-
1 p.
|
artikel
|
| 3 |
Decreased cholesterol synthesis as a possible aetiological factor in malformations of Trisomy 18
|
Lam, Wayne W.K.
|
|
2006
|
49 |
2 |
p. 195-199
5 p.
|
artikel
|
| 4 |
Evaluation of biobank constitution and use: multicentre analysis in France and propositions for formalising the activities of research ethics committees
|
de Montgolfier, Sandrine
|
|
2006
|
49 |
2 |
p. 159-167
9 p.
|
artikel
|
| 5 |
Focal preauricular dermal dysplasia: distinctive congenital lesions with a bilateral and symmetric distribution
|
Prescott, Trine
|
|
2006
|
49 |
2 |
p. 135-139
5 p.
|
artikel
|
| 6 |
Isodicentric Y (p11.32) chromosome in an infant with mixed gonadal dysgenesis
|
Aktas, Dilek
|
|
2006
|
49 |
2 |
p. 141-149
9 p.
|
artikel
|
| 7 |
Novel TBX3 mutation data in families with Ulnar–Mammary syndrome indicate a genotype–phenotype relationship: mutations that do not disrupt the T-domain are associated with less severe limb defects
|
Meneghini, Vasco
|
|
2006
|
49 |
2 |
p. 151-158
8 p.
|
artikel
|
| 8 |
Origin of Bolivian Quechua Amerindians: their relationship with other American Indians and Asians according to HLA genes
|
Martinez-Laso, Jorge
|
|
2006
|
49 |
2 |
p. 169-185
17 p.
|
artikel
|
| 9 |
Screening for subtelomeric rearrangements using automated fluorescent genotyping of microsatellite markers: a Lebanese study
|
Delague, Valérie
|
|
2006
|
49 |
2 |
p. 117-126
10 p.
|
artikel
|
| 10 |
Sensorineural deafness, enamel abnormalities and nail abnormalities: a case report of Heimler syndrome in identical twin girls
|
Ong, K.R.
|
|
2006
|
49 |
2 |
p. 187-193
7 p.
|
artikel
|
| 11 |
Testicular cancer in a patient with Primrose syndrome
|
Mathijssen, Inge B.
|
|
2006
|
49 |
2 |
p. 127-133
7 p.
|
artikel
|
| 12 |
The occurrence of aneuploidy in human: lessons from the cytogenetic studies of human oocytes
|
Pellestor, Franck
|
|
2006
|
49 |
2 |
p. 103-116
14 p.
|
artikel
|
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