| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Acknowledgement
|
|
|
2011
|
54 |
1 |
p. 1-2
2 p.
|
artikel
|
| 2 |
A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia
|
Gimelli, S.
|
|
2011
|
54 |
1 |
p. 94-96
3 p.
|
artikel
|
| 3 |
A 797 kb de novo deletion of 18q21.31 in a patient with speech delay, mental retardation, sleeping problems, facial dysmorphism, and feet anomalies
|
van Diepen, Mireille M.L.
|
|
2011
|
54 |
1 |
p. 86-88
3 p.
|
artikel
|
| 4 |
Can clinical assessment detect 22q11.2 deletions in patients with cardiac malformations? A review
|
Agergaard, Peter
|
|
2011
|
54 |
1 |
p. 3-8
6 p.
|
artikel
|
| 5 |
Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardation
|
Wohlleber, Eva
|
|
2011
|
54 |
1 |
p. 67-72
6 p.
|
artikel
|
| 6 |
De novo microduplication at 22q11.21 in a patient with VACTERL association
|
Schramm, Charlotte
|
|
2011
|
54 |
1 |
p. 9-13
5 p.
|
artikel
|
| 7 |
de novo RYR1 heterozygous mutation (I4898T) causing lethal core–rod myopathy in twins
|
Hernandez-Lain, Aurelio
|
|
2011
|
54 |
1 |
p. 29-33
5 p.
|
artikel
|
| 8 |
Editorial Board
|
|
|
2011
|
54 |
1 |
p. i-
1 p.
|
artikel
|
| 9 |
Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum
|
Aleem, Alice Abdel
|
|
2011
|
54 |
1 |
p. 82-85
4 p.
|
artikel
|
| 10 |
Familial Mediterranean fever in a large Lebanese family: Multiple MEFV mutations and evidence for a Founder effect of the p.[M694I] mutation
|
Medlej-Hashim, Myrna
|
|
2011
|
54 |
1 |
p. 50-54
5 p.
|
artikel
|
| 11 |
Genotype–phenotype correlations in a new case of 8p23.1 deletion and review of the literature
|
Ballarati, Lucia
|
|
2011
|
54 |
1 |
p. 55-59
5 p.
|
artikel
|
| 12 |
Large de novo deletion of 7p15.1 to 7p12.1 involving the imprinted gene GRB10 associated with a complex phenotype including features of Beckwith Wiedemann syndrome
|
Naik, Swati
|
|
2011
|
54 |
1 |
p. 89-93
5 p.
|
artikel
|
| 13 |
Long-term outcomes of adults with features of VACTERL association
|
Raam, Manu S.
|
|
2011
|
54 |
1 |
p. 34-41
8 p.
|
artikel
|
| 14 |
Lung disease associated with periventricular nodular heterotopia and an FLNA mutation
|
Masurel-Paulet, Alice
|
|
2011
|
54 |
1 |
p. 25-28
4 p.
|
artikel
|
| 15 |
Neuropathy in Wolfram syndrome
|
Mathis, Stéphane
|
|
2011
|
54 |
1 |
p. 73-75
3 p.
|
artikel
|
| 16 |
New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome
|
Rosenfeld, Jill A.
|
|
2011
|
54 |
1 |
p. 42-49
8 p.
|
artikel
|
| 17 |
New ocular findings in two sisters with Yunis–Varón syndrome and literature review
|
Corona-Rivera, J. Román
|
|
2011
|
54 |
1 |
p. 76-81
6 p.
|
artikel
|
| 18 |
Parental origin and functional relevance of a de novo UBE3A variant
|
Horsthemke, Bernhard
|
|
2011
|
54 |
1 |
p. 19-24
6 p.
|
artikel
|
| 19 |
Psychiatric adverse effects of rimonobant in adults with Prader Willi syndrome
|
Motaghedi, Roja
|
|
2011
|
54 |
1 |
p. 14-18
5 p.
|
artikel
|
| 20 |
Reactive lymphoid hyperplasia in association with 22q11.2 deletion syndrome and a BRCA2 mutation
|
Veerapandiyan, Aravindhan
|
|
2011
|
54 |
1 |
p. 63-66
4 p.
|
artikel
|
| 21 |
Ring chromosome 12 with inverted microduplication of 12p13.3 involving the Von Willebrand Factor gene associated with cryptogenic stroke in a young adult male
|
Nik-Zainal, Serena
|
|
2011
|
54 |
1 |
p. 97-101
5 p.
|
artikel
|
| 22 |
When brachytherapy met genetic oncology. Can radiation oncologists improve the detection of hereditary non-polyposis colorectal cancer?
|
Nguyen, Tan Dat
|
|
2011
|
54 |
1 |
p. 60-62
3 p.
|
artikel
|
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