| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A balanced de novo inv(7)(p14.3q22.3) disrupting PDE1C and ATXN7L1 in a 14-year old developmentally delayed boy
|
Gamage, Thilini H.
|
|
2013
|
56 |
7 |
p. 361-364
4 p.
|
artikel
|
| 2 |
Cenani–Lenz syndrome restricted to limb and kidney anomalies associated with a novel LRP4 missense mutation
|
Khan, Tahir Naeem
|
|
2013
|
56 |
7 |
p. 371-374
4 p.
|
artikel
|
| 3 |
Combined Dup(7)(q22.1q32.2), Inv(7)(q31.31q31.33), and Ins(7;19)(q22.1;p13.2p13.2) in a 12-year-old boy with developmental delay and various dysmorphism
|
Frühmesser, Anne
|
|
2013
|
56 |
7 |
p. 383-388
6 p.
|
artikel
|
| 4 |
Comparative screening of FMF mutations in various communities of the Israeli society
|
Sharkia, Rajech
|
|
2013
|
56 |
7 |
p. 351-355
5 p.
|
artikel
|
| 5 |
Dural ectasia and FBN1 mutation screening of 40 patients with Marfan syndrome and related disorders: Role of dural ectasia for the diagnosis
|
Attanasio, Monica
|
|
2013
|
56 |
7 |
p. 356-360
5 p.
|
artikel
|
| 6 |
Exome sequencing released a case of X-linked adrenoleukodystrophy mimicking recessive hereditary spastic paraplegia
|
Zhan, Zi-xiong
|
|
2013
|
56 |
7 |
p. 375-378
4 p.
|
artikel
|
| 7 |
Foetal presentation of cartilage hair hypoplasia with extensive granulomatous inflammation
|
Crahes, Marie
|
|
2013
|
56 |
7 |
p. 365-370
6 p.
|
artikel
|
| 8 |
HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability
|
Isrie, Mala
|
|
2013
|
56 |
7 |
p. 379-382
4 p.
|
artikel
|
| 9 |
Prenatal diagnosis using array-CGH: A French experience
|
Rooryck, Caroline
|
|
2013
|
56 |
7 |
p. 341-345
5 p.
|
artikel
|
| 10 |
Report of interstitial 22q13.1q13.2 microduplication in two siblings with distinctive dysmorphic features, heart defect and mental retardation
|
Rahikkala, Elisa
|
|
2013
|
56 |
7 |
p. 389-396
8 p.
|
artikel
|
| 11 |
Variable behavioural phenotypes of patients with monosomies of 15q26 and a review of 16 cases
|
Poot, Martin
|
|
2013
|
56 |
7 |
p. 346-350
5 p.
|
artikel
|
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