| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
From splitting GLUT1 deficiency syndromes to overlapping phenotypes
|
Hully, Marie
|
|
2015
|
58 |
9 |
p. 443-454
12 p.
|
artikel
|
| 2 |
Germline mutations and genotype–phenotype associations in head and neck paraganglioma patients with negative family history in China
|
Zhu, W.D.
|
|
2015
|
58 |
9 |
p. 433-438
6 p.
|
artikel
|
| 3 |
HCN4 mutation as a molecular explanation on patients with bradycardia and non-compaction cardiomyopathy
|
Millat, Gilles
|
|
2015
|
58 |
9 |
p. 439-442
4 p.
|
artikel
|
| 4 |
Identification of mutations, genotype–phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients
|
Gupta, Deepti
|
|
2015
|
58 |
9 |
p. 471-478
8 p.
|
artikel
|
| 5 |
Inherited 1q21.1q21.2 duplication and 16p11.2 deletion: A two-hit case with more severe clinical manifestations
|
Brisset, Sophie
|
|
2015
|
58 |
9 |
p. 497-501
5 p.
|
artikel
|
| 6 |
Leukoencephalopathy associated with 11q24 deletion involving the gene encoding hepatic and glial cell adhesion molecule in two patients
|
Yamamoto, Toshiyuki
|
|
2015
|
58 |
9 |
p. 492-496
5 p.
|
artikel
|
| 7 |
Long term follow up of two independent patients with Schinzel–Giedion carrying SETBP1 mutations
|
Herenger, Yvan
|
|
2015
|
58 |
9 |
p. 479-487
9 p.
|
artikel
|
| 8 |
NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): A new patients series
|
Gurrieri, Fiorella
|
|
2015
|
58 |
9 |
p. 488-491
4 p.
|
artikel
|
| 9 |
Novel NOG mutation in Japanese patients with stapes ankylosis with broad thumbs and toes
|
Ishino, Takashi
|
|
2015
|
58 |
9 |
p. 427-432
6 p.
|
artikel
|
| 10 |
Oculo-auriculo-vertebral spectrum: Clinical and molecular analysis of 51 patients
|
Beleza-Meireles, Ana
|
|
2015
|
58 |
9 |
p. 455-465
11 p.
|
artikel
|
| 11 |
Screening for GFAP rearrangements in a cohort of Alexander disease and undetermined leukoencephalopathy patients
|
Ferreira, Marie-Céleste
|
|
2015
|
58 |
9 |
p. 466-470
5 p.
|
artikel
|
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