| no |
title |
author |
magazine |
year |
volume |
issue |
page(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
|
article
|
| 2 |
Brachydactyly type E in an Italian family with 6p25 trisomy
|
Fontana, Paolo
|
|
2017
|
60 |
3 |
p. 195-199
|
article
|
| 3 |
Cleidocranial dysplasia: Clinical, endocrinologic and molecular findings in 15 patients from 11 families
|
Dinçsoy Bir, Firdevs
|
|
2017
|
60 |
3 |
p. 163-168
|
article
|
| 4 |
How the EUCERD Joint Action supported initiatives on Rare Diseases
|
Lynn, Stephen
|
|
2017
|
60 |
3 |
p. 185-189
|
article
|
| 5 |
Inflammatory myopathy in a patient with Aicardi-Goutières syndrome
|
Tumienė, Birutė
|
|
2017
|
60 |
3 |
p. 154-158
|
article
|
| 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
|
article
|
| 7 |
LRP5-linked osteoporosis-pseudoglioma syndrome mimicking isolated microphthalmia
|
Ergun, Sezen Guntekin
|
|
2017
|
60 |
3 |
p. 200-204
|
article
|
| 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
|
article
|
| 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
|
article
|
| 10 |
16p13 microduplication without CREBBP involvement: Moving toward a phenotype delineation
|
Ciaccio, Claudia
|
|
2017
|
60 |
3 |
p. 159-162
|
article
|
| 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
|
article
|
Journal description