| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A case of constitutional trisomy 3 mosaicism in a teenage patient with mild phenotype
|
Kekis, Mariana
|
|
2016
|
59 |
11 |
p. 569-572
4 p.
|
artikel
|
| 2 |
A novel missense mutation, p.(R102W) in WNT7A causes Al-Awadi Raas-Rothschild syndrome in a fetus
|
Mutlu, Mehmet Burak
|
|
2016
|
59 |
11 |
p. 604-606
3 p.
|
artikel
|
| 3 |
A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia
|
Diomedi, Marina
|
|
2016
|
59 |
11 |
p. 564-568
5 p.
|
artikel
|
| 4 |
Before and after – Nutritional transformation of dysmorphism in a case of Costello syndrome
|
Chiu, Annie T.G.
|
|
2016
|
59 |
11 |
p. 573-576
4 p.
|
artikel
|
| 5 |
Clinical and molecular characterization of a novel INS mutation identified in patients with MODY phenotype
|
Piccini, Barbara
|
|
2016
|
59 |
11 |
p. 590-595
6 p.
|
artikel
|
| 6 |
Cognitive behavioral therapy in 22q11.2 microdeletion with psychotic symptoms: What do we learn from schizophrenia?
|
Demily, Caroline
|
|
2016
|
59 |
11 |
p. 596-603
8 p.
|
artikel
|
| 7 |
Concurrent occurrence of an inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving MAP2K2 in a patient with developmental delay, distinctive facial features, and lambdoid synostosis
|
Shimojima, Keiko
|
|
2016
|
59 |
11 |
p. 559-563
5 p.
|
artikel
|
| 8 |
Haplotype analysis of α-thalassemia chromosomes reveals heterogeneity and multiple founders in Ashkenazi Jews
|
Shaulov, Adir
|
|
2016
|
59 |
11 |
p. 555-558
4 p.
|
artikel
|
| 9 |
Non lethal Raine syndrome and differential diagnosis
|
Elalaoui, Siham Chafai
|
|
2016
|
59 |
11 |
p. 577-583
7 p.
|
artikel
|
| 10 |
Prader-Willi syndrome and atypical submicroscopic 15q11-q13 deletions with or without imprinting defects
|
Hassan, Maaz
|
|
2016
|
59 |
11 |
p. 584-589
6 p.
|
artikel
|
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