nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
A severe pulmonary complication in a patient with COL4A1-related disorder: A case report
|
Abe, Yoshiichi |
|
2017 |
60 |
3 |
p. 169-171 |
artikel |
2 |
Brachydactyly type E in an Italian family with 6p25 trisomy
|
Fontana, Paolo |
|
2017 |
60 |
3 |
p. 195-199 |
artikel |
3 |
Cleidocranial dysplasia: Clinical, endocrinologic and molecular findings in 15 patients from 11 families
|
Dinçsoy Bir, Firdevs |
|
2017 |
60 |
3 |
p. 163-168 |
artikel |
4 |
How the EUCERD Joint Action supported initiatives on Rare Diseases
|
Lynn, Stephen |
|
2017 |
60 |
3 |
p. 185-189 |
artikel |
5 |
Inflammatory myopathy in a patient with Aicardi-Goutières syndrome
|
Tumienė, Birutė |
|
2017 |
60 |
3 |
p. 154-158 |
artikel |
6 |
In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes
|
Bacalhau, Mafalda |
|
2017 |
60 |
3 |
p. 172-177 |
artikel |
7 |
LRP5-linked osteoporosis-pseudoglioma syndrome mimicking isolated microphthalmia
|
Ergun, Sezen Guntekin |
|
2017 |
60 |
3 |
p. 200-204 |
artikel |
8 |
Multiple HABP2 variants in familial papillary thyroid carcinoma: Contribution of a group of “thyroid-checked” controls
|
Kern, Benjamin |
|
2017 |
60 |
3 |
p. 178-184 |
artikel |
9 |
Novel FREM1 mutations in a patient with MOTA syndrome: Clinical findings, mutation update and review of FREM1-related disorders literature
|
Chacon-Camacho, Oscar F. |
|
2017 |
60 |
3 |
p. 190-194 |
artikel |
10 |
16p13 microduplication without CREBBP involvement: Moving toward a phenotype delineation
|
Ciaccio, Claudia |
|
2017 |
60 |
3 |
p. 159-162 |
artikel |
11 |
The M694I/M694I genotype: A genetic risk factor of AA-amyloidosis in a group of Algerian patients with familial Mediterranean fever
|
Ait-Idir, Djouher |
|
2017 |
60 |
3 |
p. 149-153 |
artikel |