| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7
|
Lehman, Anna M.
|
|
2009
|
52 |
6 |
p. 436-439
4 p.
|
artikel
|
| 2 |
A familial 593-kb microdeletion of 16p11.2 associated with mental retardation and hemivertebrae
|
Shimojima, Keiko
|
|
2009
|
52 |
6 |
p. 433-435
3 p.
|
artikel
|
| 3 |
A novel 1.4 Mb de novo microdeletion of chromosome 1q21.3 in a child with microcephaly, dysmorphic features and mental retardation
|
Reddy, Sujana
|
|
2009
|
52 |
6 |
p. 443-445
3 p.
|
artikel
|
| 4 |
A 6-year-old child with Fryns syndrome: Further delineation of the natural history of the condition in survivors
|
Dentici, Maria Lisa
|
|
2009
|
52 |
6 |
p. 421-425
5 p.
|
artikel
|
| 5 |
Challenges for CNV interpretation in clinical molecular karyotyping: Lessons learned from a 1001 sample experience
|
Buysse, Karen
|
|
2009
|
52 |
6 |
p. 398-403
6 p.
|
artikel
|
| 6 |
Clinical and molecular overview of inherited disorders resulting from epigenomic dysregulation
|
De Sario, Albertina
|
|
2009
|
52 |
6 |
p. 363-372
10 p.
|
artikel
|
| 7 |
CV2 Editorial Board redaction
|
|
|
2009
|
52 |
6 |
p. IFC-
1 p.
|
artikel
|
| 8 |
De novo 9 Mb deletion of 6q23.2q24.1 disrupting the gene EYA4 in a patient with sensorineural hearing loss, cardiac malformation, and mental retardation
|
Dutrannoy, Véronique
|
|
2009
|
52 |
6 |
p. 450-453
4 p.
|
artikel
|
| 9 |
Early onset, multiple primary malignancies, and poor prognosis are indicative of an inherited predisposition to esophageal squamous cell carcinoma for the familial as opposed to the sporadic cases – An update on over 14-year survival
|
Wen, Denggui
|
|
2009
|
52 |
6 |
p. 381-385
5 p.
|
artikel
|
| 10 |
Hydrops fetalis and early neonatal multiple organ failure in familial hemophagocytic lymphohistiocytosis
|
Vermeulen, Marijn J.
|
|
2009
|
52 |
6 |
p. 417-420
4 p.
|
artikel
|
| 11 |
Interpreting humanity's genes
|
Shaw, Adam C.
|
|
2009
|
52 |
6 |
p. 379-380
2 p.
|
artikel
|
| 12 |
Ligase IV syndrome
|
Chistiakov, Dimitry A.
|
|
2009
|
52 |
6 |
p. 373-378
6 p.
|
artikel
|
| 13 |
4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate
|
Urquhart, Jill
|
|
2009
|
52 |
6 |
p. 454-457
4 p.
|
artikel
|
| 14 |
4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment
|
Yeung, Alison
|
|
2009
|
52 |
6 |
p. 440-442
3 p.
|
artikel
|
| 15 |
2.3 Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate gene
|
Rooryck, Caroline
|
|
2009
|
52 |
6 |
p. 446-449
4 p.
|
artikel
|
| 16 |
Megalocornea – Urticaria pigmentosa syndrome – A new syndrome?
|
Avela, Kristiina
|
|
2009
|
52 |
6 |
p. 430-432
3 p.
|
artikel
|
| 17 |
Obstructive apneas and severe dysphagia in a girl with Townes-Brocks syndrome and atypical feet involvement
|
van Bever, Yolande
|
|
2009
|
52 |
6 |
p. 426-429
4 p.
|
artikel
|
| 18 |
Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions
|
Bliek, J.
|
|
2009
|
52 |
6 |
p. 404-408
5 p.
|
artikel
|
| 19 |
Refining the clinicopathological pattern of cerebral proliferative glomeruloid vasculopathy (Fowler syndrome): Report of 16 fetal cases
|
Bessières-Grattagliano, B.
|
|
2009
|
52 |
6 |
p. 386-392
7 p.
|
artikel
|
| 20 |
Refining the locus of branchio-otic syndrome 2 (BOS2) to a 5.25 Mb locus on chromosome 1q31.3q32.1
|
Thienpont, Bernard
|
|
2009
|
52 |
6 |
p. 393-397
5 p.
|
artikel
|
| 21 |
Screening for genomic variants in ZFP57 in Silver-Russell syndrome patients with 11p15 epimutations
|
Spengler, Sabrina
|
|
2009
|
52 |
6 |
p. 415-416
2 p.
|
artikel
|
| 22 |
Two sporadic spinal neurofibromatosis patients with malignant peripheral nerve sheath tumour
|
Fauth, C.
|
|
2009
|
52 |
6 |
p. 409-414
6 p.
|
artikel
|
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