| 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
|
|
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
|
|
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
|
|
2-3 |
p. 131-133
3 p.
|
artikel
|
| 4 |
An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects
|
Rao, Anupam
|
|
2014
|
|
2-3 |
p. 65-70
6 p.
|
artikel
|
| 5 |
Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome
|
de Ravel, Thomy J.
|
|
2009
|
|
2-3 |
p. 120-122
3 p.
|
artikel
|
| 6 |
A novel microdeletion involving the 13q31.3–q32.1 region in a patient with normal intelligence
|
Valdes-Miranda, Juan Manuel
|
|
2014
|
|
2-3 |
p. 60-64
5 p.
|
artikel
|
| 7 |
A prenatal case of split-hand malformation associated with 17p13.3 triplication – A dilemma in genetic counseling
|
Luk, H.M.
|
|
2014
|
|
2-3 |
p. 81-84
4 p.
|
artikel
|
| 8 |
Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria
|
Casey, Jillian
|
|
2014
|
|
2-3 |
p. 55-59
5 p.
|
artikel
|
| 9 |
A unique 970kb microdeletion in 9q33.3, including the NR5A1 gene in a 46,XY female
|
van Silfhout, Anneke
|
|
2009
|
|
2-3 |
p. 157-160
4 p.
|
artikel
|
| 10 |
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
|
|
2-3 |
p. 134-139
6 p.
|
artikel
|
| 11 |
Confirmation and further delineation of the 3q26.33–3q27.2 microdeletion syndrome
|
Dasouki, Majed
|
|
2014
|
|
2-3 |
p. 76-80
5 p.
|
artikel
|
| 12 |
Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome
|
Van Esch, Hilde
|
|
2009
|
|
2-3 |
p. 153-156
4 p.
|
artikel
|
| 13 |
Consanguinity profile in the Gaza Strip of Palestine: Large-scale community-based study
|
Sirdah, Mahmoud M.
|
|
2014
|
|
2-3 |
p. 90-94
5 p.
|
artikel
|
| 14 |
Corrigendum to “Post-axial polydactyly type A2, overgrowth and autistic traits associated with a chromosome 13q31.3 microduplication encompassing miR-17-92 and GPC5” [Eur J Med Genet 56 (8) (2013) 452–457]
|
Kannu, P.
|
|
2014
|
|
2-3 |
p. 123-124
2 p.
|
artikel
|
| 15 |
CV2 Editorial Board redaction
|
|
|
2009
|
|
2-3 |
p. IFC-
1 p.
|
artikel
|
| 16 |
Distinct phenotype of PHF6 deletions in females
|
Di Donato, N.
|
|
2014
|
|
2-3 |
p. 85-89
5 p.
|
artikel
|
| 17 |
Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome
|
de Ravel, Thomy J.L.
|
|
2009
|
|
2-3 |
p. 145-147
3 p.
|
artikel
|
| 18 |
Emerging microdeletion and microduplication syndromes; the counseling paradigm
|
van Ravenswaaij-Arts, Conny M.A.
|
|
2009
|
|
2-3 |
p. 75-76
2 p.
|
artikel
|
| 19 |
Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals
|
Bijlsma, E.K.
|
|
2009
|
|
2-3 |
p. 77-87
11 p.
|
artikel
|
| 20 |
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome
|
Van der Aa, Nathalie
|
|
2009
|
|
2-3 |
p. 94-100
7 p.
|
artikel
|
| 21 |
1.6Mb deletion in chromosome band 3q29 associated with eye abnormalities
|
Tyshchenko, Nataliya
|
|
2009
|
|
2-3 |
p. 128-130
3 p.
|
artikel
|
| 22 |
Microduplication 22q11.2: A new chromosomal syndrome
|
Portnoï, Marie-France
|
|
2009
|
|
2-3 |
p. 88-93
6 p.
|
artikel
|
| 23 |
Modification of severe insulin resistant diabetes in response to lifestyle changes in Alström syndrome
|
Paisey, Richard B.
|
|
2014
|
|
2-3 |
p. 71-75
5 p.
|
artikel
|
| 24 |
Molecular genetics of congenital nuclear cataract
|
Deng, Hao
|
|
2014
|
|
2-3 |
p. 113-122
10 p.
|
artikel
|
| 25 |
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
|
|
2-3 |
p. 108-115
8 p.
|
artikel
|
| 26 |
14q12 Microdeletion syndrome and congenital variant of Rett syndrome
|
Mencarelli, Maria Antonietta
|
|
2009
|
|
2-3 |
p. 148-152
5 p.
|
artikel
|
| 27 |
Recent progress in the genetics of motor neuron disease
|
Finsterer, Josef
|
|
2014
|
|
2-3 |
p. 103-112
10 p.
|
artikel
|
| 28 |
The 12q14 microdeletion syndrome: Additional patients and further evidence that HMGA2 is an important genetic determinant for human height
|
Buysse, Karen
|
|
2009
|
|
2-3 |
p. 101-107
7 p.
|
artikel
|
| 29 |
The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: Report on two patients and review of the literature
|
Raas-Rothschild, Annick
|
|
2009
|
|
2-3 |
p. 140-144
5 p.
|
artikel
|
| 30 |
Transforming growth factor-β (TGF-β) pathway abnormalities in tenascin-X deficiency associated with CAH-X syndrome
|
Morissette, Rachel
|
|
2014
|
|
2-3 |
p. 95-102
8 p.
|
artikel
|
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