| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
A genealogical and clinical study of the phenotypical variation within the Swedish transthyretin His88Arg (p. His108Arg) amyloidosis family
|
Hellman, Urban
|
|
2015
|
58 |
4 |
p. 211-215
5 p.
|
article
|
| 2 |
A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology
|
Pen, Anja E.
|
|
2015
|
58 |
4 |
p. 222-229
8 p.
|
article
|
| 3 |
Chanarin-Dorfman syndrome: Genotype-Phenotype Correlation
|
Nur, Banu Guzel
|
|
2015
|
58 |
4 |
p. 238-242
5 p.
|
article
|
| 4 |
Comment on critical region for talipes equinovarus in patients with 5q23 deletions
|
Tecos, Maria
|
|
2015
|
58 |
4 |
p. 243-
1 p.
|
article
|
| 5 |
Comprehensive analysis of desmosomal gene mutations in Han Chinese patients with arrhythmogenic right ventricular cardiomyopathy
|
Zhou, Xiujuan
|
|
2015
|
58 |
4 |
p. 258-265
8 p.
|
article
|
| 6 |
Facioscapulohumeral muscular dystrophy as a genetic cause of pectus excavatum
|
Mul, Karlien
|
|
2015
|
58 |
4 |
p. 203-204
2 p.
|
article
|
| 7 |
Focus group discussions on secondary variants and next-generation sequencing technologies
|
Christenhusz, Gabrielle M.
|
|
2015
|
58 |
4 |
p. 249-257
9 p.
|
article
|
| 8 |
Frameshift mutations in the insulin gene leading to prolonged molecule of insulin in two families with Maturity-Onset Diabetes of the Young
|
Dusatkova, Lenka
|
|
2015
|
58 |
4 |
p. 230-234
5 p.
|
article
|
| 9 |
3 generation pedigree with paternal transmission of the 22q11.2 deletion syndrome: Intrafamilial phenotypic variability
|
Vergaelen, Elfi
|
|
2015
|
58 |
4 |
p. 244-248
5 p.
|
article
|
| 10 |
Homozygous missense mutation in STYXL1 associated with moderate intellectual disability, epilepsy and behavioural complexities
|
Isrie, Mala
|
|
2015
|
58 |
4 |
p. 205-210
6 p.
|
article
|
| 11 |
Mirror-image gastroschisis in monochorionic female twins
|
Lubala, Toni Kasole
|
|
2015
|
58 |
4 |
p. 266-269
4 p.
|
article
|
| 12 |
Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family
|
Jelani, Musharraf
|
|
2015
|
58 |
4 |
p. 216-221
6 p.
|
article
|
| 13 |
Warsaw Breakage Syndrome – A further report, emphasising cutaneous findings
|
Bailey, Claire
|
|
2015
|
58 |
4 |
p. 235-237
3 p.
|
article
|
Journal description