| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A 785kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis
|
Pariani, Mitchel J.
|
|
2009
|
52 |
2-3 |
p. 123-127
5 p.
|
artikel
|
| 2 |
A 649kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature
|
Hanemaaijer, Nicolien
|
|
2009
|
52 |
2-3 |
p. 116-119
4 p.
|
artikel
|
| 3 |
A 9.3Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb
|
Pollazzon, M.
|
|
2009
|
52 |
2-3 |
p. 131-133
3 p.
|
artikel
|
| 4 |
Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome
|
de Ravel, Thomy J.
|
|
2009
|
52 |
2-3 |
p. 120-122
3 p.
|
artikel
|
| 5 |
A unique 970kb microdeletion in 9q33.3, including the NR5A1 gene in a 46,XY female
|
van Silfhout, Anneke
|
|
2009
|
52 |
2-3 |
p. 157-160
4 p.
|
artikel
|
| 6 |
Clinical and molecular characterization of two patients with a 6.75Mb overlapping deletion in 8p12p21 with two candidate loci for congenital heart defects
|
Willemsen, Marjolein H.
|
|
2009
|
52 |
2-3 |
p. 134-139
6 p.
|
artikel
|
| 7 |
Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome
|
Van Esch, Hilde
|
|
2009
|
52 |
2-3 |
p. 153-156
4 p.
|
artikel
|
| 8 |
CV2 Editorial Board redaction
|
|
|
2009
|
52 |
2-3 |
p. IFC-
1 p.
|
artikel
|
| 9 |
Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome
|
de Ravel, Thomy J.L.
|
|
2009
|
52 |
2-3 |
p. 145-147
3 p.
|
artikel
|
| 10 |
Emerging microdeletion and microduplication syndromes; the counseling paradigm
|
van Ravenswaaij-Arts, Conny M.A.
|
|
2009
|
52 |
2-3 |
p. 75-76
2 p.
|
artikel
|
| 11 |
Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals
|
Bijlsma, E.K.
|
|
2009
|
52 |
2-3 |
p. 77-87
11 p.
|
artikel
|
| 12 |
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome
|
Van der Aa, Nathalie
|
|
2009
|
52 |
2-3 |
p. 94-100
7 p.
|
artikel
|
| 13 |
1.6Mb deletion in chromosome band 3q29 associated with eye abnormalities
|
Tyshchenko, Nataliya
|
|
2009
|
52 |
2-3 |
p. 128-130
3 p.
|
artikel
|
| 14 |
Microduplication 22q11.2: A new chromosomal syndrome
|
Portnoï, Marie-France
|
|
2009
|
52 |
2-3 |
p. 88-93
6 p.
|
artikel
|
| 15 |
Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader–Willi critical region, possibly associated with behavioural disturbances
|
Doornbos, Marianne
|
|
2009
|
52 |
2-3 |
p. 108-115
8 p.
|
artikel
|
| 16 |
14q12 Microdeletion syndrome and congenital variant of Rett syndrome
|
Mencarelli, Maria Antonietta
|
|
2009
|
52 |
2-3 |
p. 148-152
5 p.
|
artikel
|
| 17 |
The 12q14 microdeletion syndrome: Additional patients and further evidence that HMGA2 is an important genetic determinant for human height
|
Buysse, Karen
|
|
2009
|
52 |
2-3 |
p. 101-107
7 p.
|
artikel
|
| 18 |
The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: Report on two patients and review of the literature
|
Raas-Rothschild, Annick
|
|
2009
|
52 |
2-3 |
p. 140-144
5 p.
|
artikel
|
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