| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A 12Mb deletion of 6p24.1→pter in an 18-gestational-week fetus with orofacial clefting, the Dandy–Walker malformation and bilateral multicystic kidneys
|
Chen, Chih-Ping
|
|
2009
|
52 |
1 |
p. 59-61
3 p.
|
artikel
|
| 2 |
A patient with two mitochondrial DNA mutations causing PEO and LHON
|
Melberg, Atle
|
|
2009
|
52 |
1 |
p. 47-48
2 p.
|
artikel
|
| 3 |
Array-CGH detection of a de novo 0.8Mb deletion in 19q13.32 associated with mental retardation, cardiac malformation, cleft lip and palate, hearing loss and multiple dysmorphic features
|
Leal, Teresinha
|
|
2009
|
52 |
1 |
p. 62-66
5 p.
|
artikel
|
| 4 |
Characterization of an interstitial deletion 6q13–q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms
|
Lespinasse, James
|
|
2009
|
52 |
1 |
p. 49-52
4 p.
|
artikel
|
| 5 |
Clinical and genetic heterogeneity in keratosis follicularis spinulosa decalvans
|
Castori, Marco
|
|
2009
|
52 |
1 |
p. 53-58
6 p.
|
artikel
|
| 6 |
Compound-heterozygous Marfan syndrome
|
Van Dijk, F.S.
|
|
2009
|
52 |
1 |
p. 1-5
5 p.
|
artikel
|
| 7 |
Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: Probably a new syndrome
|
Capra, Valeria
|
|
2009
|
52 |
1 |
p. 17-22
6 p.
|
artikel
|
| 8 |
Deletion 2p25.2: A cryptic chromosome abnormality in a patient with autism and mental retardation detected using aCGH
|
Lo-Castro, Adriana
|
|
2009
|
52 |
1 |
p. 67-70
4 p.
|
artikel
|
| 9 |
IFC - Editorial Board redaction
|
|
|
2009
|
52 |
1 |
p. IFC-
1 p.
|
artikel
|
| 10 |
Impairment of cerebello-thalamo-frontal pathway in Rab-GDI mutated patients with pure mental deficiency
|
Curie, Aurore
|
|
2009
|
52 |
1 |
p. 6-13
8 p.
|
artikel
|
| 11 |
5.9Mb microdeletion in chromosome band 17q22–q23.2 associated with tracheo-esophageal fistula and conductive hearing loss
|
Puusepp, Helen
|
|
2009
|
52 |
1 |
p. 71-74
4 p.
|
artikel
|
| 12 |
Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation
|
Friguls, B.
|
|
2009
|
52 |
1 |
p. 14-16
3 p.
|
artikel
|
| 13 |
Three de novo losses and one insertion within a pericentric inversion of chromosome 6 in a patient with complete absence of expressive speech and reduced pain perception
|
Poot, Martin
|
|
2009
|
52 |
1 |
p. 27-30
4 p.
|
artikel
|
| 14 |
Tubulopathy and pancytopaenia with normal pancreatic function: A variant of Pearson syndrome
|
Atale, Agnès
|
|
2009
|
52 |
1 |
p. 23-26
4 p.
|
artikel
|
| 15 |
Twelve new patients with 13q deletion syndrome: Genotype–phenotype analyses in progress
|
Quélin, Chloé
|
|
2009
|
52 |
1 |
p. 41-46
6 p.
|
artikel
|
| 16 |
Unusual 8p inverted duplication deletion with telomere capture from 8q
|
Buysse, Karen
|
|
2009
|
52 |
1 |
p. 31-36
6 p.
|
artikel
|
| 17 |
Very early premature ovarian failure in two sisters compound heterozygous for the FMR1 premutation
|
Van Esch, Hilde
|
|
2009
|
52 |
1 |
p. 37-40
4 p.
|
artikel
|
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