| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A familial syndromal form of omphalocele
|
Port-Lis, Marylin
|
|
2011
|
54 |
3 |
p. 337-340
4 p.
|
artikel
|
| 2 |
A founder effect at the EPCAM locus in Congenital Tufting Enteropathy in the Arabic Gulf
|
Salomon, Julie
|
|
2011
|
54 |
3 |
p. 319-322
4 p.
|
artikel
|
| 3 |
A 10 Mb duplication in chromosome band 5q31.3–5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis
|
Faguer, Stanislas
|
|
2011
|
54 |
3 |
p. 310-313
4 p.
|
artikel
|
| 4 |
A 1Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson–Golabi–Behmel syndrome
|
Weichert, Jan
|
|
2011
|
54 |
3 |
p. 343-347
5 p.
|
artikel
|
| 5 |
Analysis of FOXF1 and the FOX gene cluster in patients with VACTERL association
|
Agochukwu, Nneamaka B.
|
|
2011
|
54 |
3 |
p. 323-328
6 p.
|
artikel
|
| 6 |
A new 17p13.3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X;17 translocation
|
Hyon, Capucine
|
|
2011
|
54 |
3 |
p. 287-291
5 p.
|
artikel
|
| 7 |
A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation
|
Rejeb, Imen
|
|
2011
|
54 |
3 |
p. 241-246
6 p.
|
artikel
|
| 8 |
A novel mutation in TNNT3 associated with Sheldon–Hall syndrome in a Chinese family with vertical talus
|
Zhao, Ning
|
|
2011
|
54 |
3 |
p. 351-353
3 p.
|
artikel
|
| 9 |
An unusual chromosome 22q11 deletion associated with an apparent complementary ring chromosome in a phenotypically normal woman
|
Toutain, Jérôme
|
|
2011
|
54 |
3 |
p. 292-294
3 p.
|
artikel
|
| 10 |
A proposal for classification of entities combining vascular malformations and deregulated growth
|
Oduber, Charlène E.U.
|
|
2011
|
54 |
3 |
p. 262-271
10 p.
|
artikel
|
| 11 |
Array-CGH characterization of a prenatally detected de novo 46,X,der(Y)t(X;Y)(p22.3;q11.2) in a male fetus
|
Palka, Chiara
|
|
2011
|
54 |
3 |
p. 333-336
4 p.
|
artikel
|
| 12 |
Care for patients with ultra-rare disorders
|
Hennekam, Raoul CM.
|
|
2011
|
54 |
3 |
p. 220-224
5 p.
|
artikel
|
| 13 |
Characterization of sSMC by FISH and molecular techniques
|
Sheth, Frenny
|
|
2011
|
54 |
3 |
p. 247-255
9 p.
|
artikel
|
| 14 |
Circumferential skin creases, cleft palate, typical face, intellectual disability and growth delay: “Circumferential skin creases Kunze type”
|
Wouters, Leen
|
|
2011
|
54 |
3 |
p. 236-240
5 p.
|
artikel
|
| 15 |
Clinical report: An interstitial deletion of 16p13.11 detected by array CGH in a patient with infantile spasms
|
Balasubramanian, M.
|
|
2011
|
54 |
3 |
p. 314-318
5 p.
|
artikel
|
| 16 |
Cockayne syndrome caused by paternally inherited 5Mb deletion of 10q11.2 and a frameshift mutation of ERCC6
|
Ghai, Shailly Jain
|
|
2011
|
54 |
3 |
p. 272-276
5 p.
|
artikel
|
| 17 |
De novo deletion of chromosome 2q24.2 region in a mentally retarded boy with muscular hypotonia
|
Magri, Chiara
|
|
2011
|
54 |
3 |
p. 361-364
4 p.
|
artikel
|
| 18 |
De novo mosaic ring chromosome 18 in a child with mental retardation, epilepsy and immunological problems
|
Lo-Castro, Adriana
|
|
2011
|
54 |
3 |
p. 329-332
4 p.
|
artikel
|
| 19 |
Diagnosis of distal 22q11.2 deletion syndrome in a patient with a teratoid/rhabdoid tumour
|
Beddow, R.A.
|
|
2011
|
54 |
3 |
p. 295-298
4 p.
|
artikel
|
| 20 |
Diploid/triploid mosaicism: A rare event or an under-diagnosed syndrome?
|
Boonen, Susanne E.
|
|
2011
|
54 |
3 |
p. 374-375
2 p.
|
artikel
|
| 21 |
Editorial Board
|
|
|
2011
|
54 |
3 |
p. i-
1 p.
|
artikel
|
| 22 |
Lung disease in FLNA mutation: Confirmatory report
|
de Wit, M.C.Y.
|
|
2011
|
54 |
3 |
p. 299-300
2 p.
|
artikel
|
| 23 |
21 Mb deletion in chromosome band 13q22.2q32.1 associated with mild/moderate psychomotor retardation, growth hormone insufficiency, short neck, micrognathia, hypotonia, dysplastic ears and other dysmorphic features
|
Grigori, Panagiota
|
|
2011
|
54 |
3 |
p. 365-368
4 p.
|
artikel
|
| 24 |
3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome
|
Oexle, Konrad
|
|
2011
|
54 |
3 |
p. 225-230
6 p.
|
artikel
|
| 25 |
5.78 Mb terminal deletion of chromosome 15q in a girl, evaluation of NR2F2 as candidate gene for congenital heart defects
|
Nakamura, Eiki
|
|
2011
|
54 |
3 |
p. 354-356
3 p.
|
artikel
|
| 26 |
Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature
|
Busche, Andreas
|
|
2011
|
54 |
3 |
p. 256-261
6 p.
|
artikel
|
| 27 |
Novel deletion encompassing exons 5–12 of the UBE3A gene in a girl with Angelman syndrome
|
Beleza-Meireles, Ana
|
|
2011
|
54 |
3 |
p. 348-350
3 p.
|
artikel
|
| 28 |
Novel mutations of the MLC1 gene in Turkish patients
|
Yüzbaşioğlu, Ayşe
|
|
2011
|
54 |
3 |
p. 281-283
3 p.
|
artikel
|
| 29 |
Prenatal and postnatal growth retardation, microcephaly, developmental delay, and pigmentation abnormalities: Naegeli syndrome, dyskeratosis congenita, poikiloderma Clericuzio type, or separate entity?
|
Belligni, Elga F.
|
|
2011
|
54 |
3 |
p. 231-235
5 p.
|
artikel
|
| 30 |
17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome
|
El Chehadeh-Djebbar, Salima
|
|
2011
|
54 |
3 |
p. 369-373
5 p.
|
artikel
|
| 31 |
15q11.2 microdeletion – Seven new patients with delayed development and/or behavioural problems
|
von der Lippe, C.
|
|
2011
|
54 |
3 |
p. 357-360
4 p.
|
artikel
|
| 32 |
Search of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defects
|
Salazar, Marleny
|
|
2011
|
54 |
3 |
p. 306-309
4 p.
|
artikel
|
| 33 |
Severe lysosomal storage disease of liver in del(1)(p36): A new presentation
|
Haimi, Motti
|
|
2011
|
54 |
3 |
p. 209-213
5 p.
|
artikel
|
| 34 |
SNP-array based whole genome homozygosity mapping: A quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients
|
Papić, Lea
|
|
2011
|
54 |
3 |
p. 214-219
6 p.
|
artikel
|
| 35 |
Solitary median maxillary central incisor and congenital nasal pyriform aperture stenosis combined with asymmetric crying facies and postaxial lower limb reduction defects: A unique combination of features
|
Van Dijk, F.S.
|
|
2011
|
54 |
3 |
p. 284-286
3 p.
|
artikel
|
| 36 |
The face of Ulnar Mammary syndrome?
|
Joss, Shelagh
|
|
2011
|
54 |
3 |
p. 301-305
5 p.
|
artikel
|
| 37 |
Transient aplastic anemia in Down’s syndrome – A rare association
|
Gathwala, Geeta
|
|
2011
|
54 |
3 |
p. 341-342
2 p.
|
artikel
|
| 38 |
Tyrosinemia type II (Richner–Hanhart syndrome): A new mutation in the TAT gene
|
Čulic, Vida
|
|
2011
|
54 |
3 |
p. 205-208
4 p.
|
artikel
|
| 39 |
Written information to patients in clinical genetics: What’s the impact?
|
Cassini, C.
|
|
2011
|
54 |
3 |
p. 277-280
4 p.
|
artikel
|
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