| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Adducted thumbs: A clinical clue to genetic diagnosis
|
Verhagen, J.M.A.
|
|
2013
|
56 |
3 |
p. 153-158
6 p.
|
artikel
|
| 2 |
A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features
|
Boudry-Labis, Elise
|
|
2013
|
56 |
3 |
p. 163-170
8 p.
|
artikel
|
| 3 |
Characterization of a Norwegian cherubism cohort; molecular genetic findings, oral manifestations and quality of life
|
Prescott, Trine
|
|
2013
|
56 |
3 |
p. 131-137
7 p.
|
artikel
|
| 4 |
Chromosome 12q13.13 deletions involving the HOXC gene cluster: Phenotype and candidate genes
|
Hancarova, Miroslava
|
|
2013
|
56 |
3 |
p. 171-173
3 p.
|
artikel
|
| 5 |
Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: Rare association with pulmonary valve stenosis
|
Digilio, M. Cristina
|
|
2013
|
56 |
3 |
p. 144-149
6 p.
|
artikel
|
| 6 |
Haplotype analysis and ancient origin of the BRCA1 c.4035delA Baltic founder mutation
|
Janavičius, Ramūnas
|
|
2013
|
56 |
3 |
p. 125-130
6 p.
|
artikel
|
| 7 |
Identification of the first deep intronic mutation in the RPS6KA3 gene in a patient with a severe form of Coffin–Lowry syndrome
|
Schneider, Anne
|
|
2013
|
56 |
3 |
p. 150-152
3 p.
|
artikel
|
| 8 |
Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype
|
Gervasini, Cristina
|
|
2013
|
56 |
3 |
p. 138-143
6 p.
|
artikel
|
| 9 |
Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation
|
Piña-Aguilar, Raul E.
|
|
2013
|
56 |
3 |
p. 159-162
4 p.
|
artikel
|
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