| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A novel gene mutation in PANK2 in a patient with an atypical form of pantothenate kinase-associated neurodegeneration
|
Pérez-González, E.A.
|
|
2013
|
56 |
11 |
p. 606-608
3 p.
|
artikel
|
| 2 |
Combined deletion of two Condensin II system genes (NCAPG2 and MCPH1) in a case of severe microcephaly and mental deficiency
|
Perche, Olivier
|
|
2013
|
56 |
11 |
p. 635-641
7 p.
|
artikel
|
| 3 |
Constitutional 11q14-q22 chromosome deletion syndrome in a child with neuroblastoma MYCN single copy
|
Passariello, Annalisa
|
|
2013
|
56 |
11 |
p. 626-634
9 p.
|
artikel
|
| 4 |
Description of another case of 3q26.33-3q27.2 microdeletion supports a recognizable phenotype
|
Zarate, Yuri A.
|
|
2013
|
56 |
11 |
p. 624-625
2 p.
|
artikel
|
| 5 |
Expanding the phenotype of IFAP/BRESECK syndrome: A new case with severe hypogammaglobulinemia
|
Corujeira, Susana
|
|
2013
|
56 |
11 |
p. 603-605
3 p.
|
artikel
|
| 6 |
MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation
|
Pfau, Ruthann B.
|
|
2013
|
56 |
11 |
p. 609-613
5 p.
|
artikel
|
| 7 |
Mutational analysis of the human MESP1 gene in patients with congenital heart disease reveals a highly variable sequence in exon 1
|
Lahm, Harald
|
|
2013
|
56 |
11 |
p. 591-598
8 p.
|
artikel
|
| 8 |
Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation
|
Buchert, Rebecca
|
|
2013
|
56 |
11 |
p. 599-602
4 p.
|
artikel
|
| 9 |
Neurological features and long-term follow-up in 15q11.2-13.1 duplication
|
Coppola, Antonietta
|
|
2013
|
56 |
11 |
p. 614-618
5 p.
|
artikel
|
| 10 |
The psychological impact of cryptic chromosomal abnormalities diagnosis announcement
|
Houdayer, Françoise
|
|
2013
|
56 |
11 |
p. 585-590
6 p.
|
artikel
|
| 11 |
46,XY disorder of sex development and developmental delay associated with a novel 9q33.3 microdeletion encompassing NR5A1
|
Brandt, Tracy
|
|
2013
|
56 |
11 |
p. 619-623
5 p.
|
artikel
|
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