| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
A new mutation for Huntington disease following maternal transmission of an intermediate allele
|
Semaka, Alicia
|
|
2015
|
58 |
1 |
p. 28-30
3 p.
|
article
|
| 2 |
A new mutation in the COL4A3 gene responsible for autosomal dominant Alport syndrome, which only generates hearing loss in some carriers
|
Rosado, Consolación
|
|
2015
|
58 |
1 |
p. 35-38
4 p.
|
article
|
| 3 |
A study of familial Mediterranean Fever (MEFV) gene mutations in Egyptian children with type 1 diabetes mellitus
|
Anwar, Ghada Mohammad
|
|
2015
|
58 |
1 |
p. 31-34
4 p.
|
article
|
| 4 |
Building treasures for rare disorders
|
Baas, Melanie
|
|
2015
|
58 |
1 |
p. 11-13
3 p.
|
article
|
| 5 |
Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF gene
|
Ciara, Elżbieta
|
|
2015
|
58 |
1 |
p. 14-20
7 p.
|
article
|
| 6 |
Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism: Epidemiology, metabolism and the associated diseases
|
Liew, Siaw-Cheok
|
|
2015
|
58 |
1 |
p. 1-10
10 p.
|
article
|
| 7 |
Mutations in patients with osteogenesis imperfecta from consanguineous Indian families
|
Stephen, Joshi
|
|
2015
|
58 |
1 |
p. 21-27
7 p.
|
article
|
| 8 |
NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy
|
Caglayan, Ahmet Okay
|
|
2015
|
58 |
1 |
p. 39-43
5 p.
|
article
|
| 9 |
21q21 deletion involving NCAM2: Report of 3 cases with neurodevelopmental disorders
|
Petit, Florence
|
|
2015
|
58 |
1 |
p. 44-46
3 p.
|
article
|
| 10 |
Two girls with short stature, short neck, vertebral anomalies, Sprengel deformity and intellectual disability
|
Isidor, Bertrand
|
|
2015
|
58 |
1 |
p. 47-50
4 p.
|
article
|
Journal description