| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A de novo 1.13 Mb microdeletion in 12q13.13 associated with congenital distal arthrogryposis, intellectual disability and mild dysmorphism
|
Jonsson, Dagur Ingi
|
|
2012
|
|
6-7 |
p. 437-440
4 p.
|
artikel
|
| 2 |
A further patient with van Maldergem syndrome
|
Neuhann, T.M.
|
|
2012
|
|
6-7 |
p. 423-428
6 p.
|
artikel
|
| 3 |
A new hereditary congenital facial palsy case supports arg5 in HOX-DNA binding domain as possible hot spot for mutations
|
Uyguner, Zehra Oya
|
|
2015
|
|
6-7 |
p. 358-363
6 p.
|
artikel
|
| 4 |
Angelman syndrome in Hong Kong Chinese: A 20 years’ experience
|
Luk, H.M.
|
|
2016
|
|
6-7 |
p. 315-319
5 p.
|
artikel
|
| 5 |
A novel ACVR1 mutation detected by whole exome sequencing in a family with an unusual skeletal dysplasia
|
Rafati, Maryam
|
|
2016
|
|
6-7 |
p. 330-336
7 p.
|
artikel
|
| 6 |
A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13
|
Barøy, Tuva
|
|
2016
|
|
6-7 |
p. 342-346
5 p.
|
artikel
|
| 7 |
A novel nonsense GPSM2 mutation in a Yemeni family underlying Chudley-McCullough syndrome
|
Hamzeh, Abdul Rezzak
|
|
2016
|
|
6-7 |
p. 337-341
5 p.
|
artikel
|
| 8 |
Antenatal presentation of hereditary lymphedema type I
|
Boudon, E.
|
|
2015
|
|
6-7 |
p. 329-331
3 p.
|
artikel
|
| 9 |
A template for broad consent in biobank research. Results and explanation of an evidence and consensus-based development process
|
Strech, D.
|
|
2016
|
|
6-7 |
p. 295-309
15 p.
|
artikel
|
| 10 |
Brain malformations in a patient with deletion 2p16.1: A refinement of the phenotype to BCL11A
|
Balci, Tugce B.
|
|
2015
|
|
6-7 |
p. 351-354
4 p.
|
artikel
|
| 11 |
Childhood apraxia of speech without intellectual deficit in a patient with cri du chat syndrome
|
Marignier, Stéphanie
|
|
2012
|
|
6-7 |
p. 433-436
4 p.
|
artikel
|
| 12 |
Chromosome Xq28 duplication encompassing MECP2: Clinical and molecular analysis of 16 new patients from 10 families in China
|
Yi, Zhi
|
|
2016
|
|
6-7 |
p. 347-353
7 p.
|
artikel
|
| 13 |
Cognitive functioning in children and adults with Smith-Magenis syndrome
|
Osório, Ana
|
|
2012
|
|
6-7 |
p. 394-399
6 p.
|
artikel
|
| 14 |
De novo deletion of HOXB gene cluster in a patient with failure to thrive, developmental delay, gastroesophageal reflux and bronchiectasis
|
Pajusalu, Sander
|
|
2015
|
|
6-7 |
p. 336-340
5 p.
|
artikel
|
| 15 |
Eight patients with Williams syndrome and craniosynostosis
|
Ueda, Kimiko
|
|
2015
|
|
6-7 |
p. 355-357
3 p.
|
artikel
|
| 16 |
Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome
|
Shaw, Marie
|
|
2015
|
|
6-7 |
p. 364-368
5 p.
|
artikel
|
| 17 |
Klippel–Feil syndrome associated with situs inversus: Description of a new case and exclusion of GDF1, GDF3 and GDF6 as causal genes
|
Chacón-Camacho, Oscar
|
|
2012
|
|
6-7 |
p. 414-417
4 p.
|
artikel
|
| 18 |
Low-level mosaicism of a de novo derivative chromosome 9 from a t(5;9)(q35.1;q34.3) has a major phenotypic impact
|
Hervé, B.
|
|
2015
|
|
6-7 |
p. 346-350
5 p.
|
artikel
|
| 19 |
Mosaicism in Stickler syndrome
|
Stevenson, David A.
|
|
2012
|
|
6-7 |
p. 418-422
5 p.
|
artikel
|
| 20 |
Mutation screening of IRF6 among families with non-syndromic oral clefts and identification of two novel variants: Review of the literature
|
Salahshourifar, Iman
|
|
2012
|
|
6-7 |
p. 389-393
5 p.
|
artikel
|
| 21 |
Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndrome
|
Kharbanda, Mira
|
|
2016
|
|
6-7 |
p. 310-314
5 p.
|
artikel
|
| 22 |
Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region
|
Shimojima, Keiko
|
|
2012
|
|
6-7 |
p. 400-403
4 p.
|
artikel
|
| 23 |
19q13 microdeletion syndrome: Further refining the critical region
|
Forzano, Francesca
|
|
2012
|
|
6-7 |
p. 429-432
4 p.
|
artikel
|
| 24 |
Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4
|
Akinci, Gulcin
|
|
2016
|
|
6-7 |
p. 320-324
5 p.
|
artikel
|
| 25 |
Unusual retrospective prenatal findings in a male newborn with Timothy syndrome type 1
|
Corona-Rivera, J. Román
|
|
2015
|
|
6-7 |
p. 332-335
4 p.
|
artikel
|
| 26 |
Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss
|
Bakhchane, Amina
|
|
2016
|
|
6-7 |
p. 325-329
5 p.
|
artikel
|
| 27 |
Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature
|
Heide, Solveig
|
|
2015
|
|
6-7 |
p. 341-345
5 p.
|
artikel
|
| 28 |
Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation
|
Bijlsma, E.K.
|
|
2012
|
|
6-7 |
p. 404-413
10 p.
|
artikel
|
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