| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Additional familial case of subtotal leukonychia and sebaceous cysts (Bauer syndrome): Belong the nervous tumours to the phenotype?
|
Morin, Gilles
|
|
2008
|
51 |
5 |
p. 436-443
8 p.
|
artikel
|
| 2 |
A 400kb duplication, 2.4Mb triplication and 130kbduplication of 9q34.3 in a patient with severe mental retardation
|
Gijsbers, Antoinet C.J.
|
|
2008
|
51 |
5 |
p. 479-487
9 p.
|
artikel
|
| 3 |
Catel–Manzke syndrome: Two new patients and a critical review of the literature
|
Manzke, Hermann
|
|
2008
|
51 |
5 |
p. 452-465
14 p.
|
artikel
|
| 4 |
Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy (GAN): Report from India
|
Nalini, A.
|
|
2008
|
51 |
5 |
p. 426-435
10 p.
|
artikel
|
| 5 |
Ectrodactyly with fibular aplasia: A separate entity?
|
Menke, Leonie A.
|
|
2008
|
51 |
5 |
p. 488-496
9 p.
|
artikel
|
| 6 |
Editorial Board redaction
|
|
|
2008
|
51 |
5 |
p. IFC-
1 p.
|
artikel
|
| 7 |
Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome
|
Bergman, Jorieke E.H.
|
|
2008
|
51 |
5 |
p. 417-425
9 p.
|
artikel
|
| 8 |
Maternal uniparental disomy 7 and Silver–Russell syndrome – Clinical update and comparison with other subgroups
|
Kotzot, Dieter
|
|
2008
|
51 |
5 |
p. 444-451
8 p.
|
artikel
|
| 9 |
Precocious puberty in Sanfilippo IIIA disease: Diagnosis and follow-up of two new cases
|
Concolino, D.
|
|
2008
|
51 |
5 |
p. 466-471
6 p.
|
artikel
|
| 10 |
Prenatal manifestation in a family affected by nevoid basal cell carcinoma syndrome
|
Le Brun Keris, Yann
|
|
2008
|
51 |
5 |
p. 472-478
7 p.
|
artikel
|
| 11 |
Private inherited microdeletion/microduplications: Implications in clinical practice
|
Mencarelli, Maria Antonietta
|
|
2008
|
51 |
5 |
p. 409-416
8 p.
|
artikel
|
| 12 |
R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy
|
Valenzise, Mariella
|
|
2008
|
51 |
5 |
p. 497-500
4 p.
|
artikel
|
| 13 |
The genetic basis of inherited anomalies of the teeth. Part 2: Syndromes with significant dental involvement
|
Bailleul-Forestier, Isabelle
|
|
2008
|
51 |
5 |
p. 383-408
26 p.
|
artikel
|
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