| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
Cephalometry in adults and children with neurofibromatosis type 1: Implications for the pathogenesis of sphenoid wing dysplasia and the “NF1 facies”
|
Cung, Winnie
|
|
2015
|
58 |
11 |
p. 584-590
7 p.
|
article
|
| 2 |
Cervical artery dissections and type A aortic dissection in a family with a novel missense COL3A1 mutation of vascular type Ehlers–Danlos syndrome
|
Makrygiannis, Georgios
|
|
2015
|
58 |
11 |
p. 634-636
3 p.
|
article
|
| 3 |
Clinical, cytogenetic, and molecular findings in a patient with a 46,XX,del(18)(q22)/46,XX,idic(18)(q22) karyotype
|
Rittinger, Olaf
|
|
2015
|
58 |
11 |
p. 603-607
5 p.
|
article
|
| 4 |
Complex translocation t(1;12;14)(q42;q14;q32) and HMGA2 deletion in a fetus presenting growth delay and bilateral cataracts
|
Raymond, Laure
|
|
2015
|
58 |
11 |
p. 591-596
6 p.
|
article
|
| 5 |
Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases
|
Li, Xiyuan
|
|
2015
|
58 |
11 |
p. 617-623
7 p.
|
article
|
| 6 |
Exome sequencing in a patient with Catel–Manzke-like syndrome excludes the involvement of the known genes and reveals a possible candidate
|
Stanghellini, Ilaria
|
|
2015
|
58 |
11 |
p. 597-602
6 p.
|
article
|
| 7 |
Generalized epilepsy in a family with basal ganglia calcifications and mutations in SLC20A2 and CHRNB2
|
Fjaer, Roar
|
|
2015
|
58 |
11 |
p. 624-628
5 p.
|
article
|
| 8 |
Identification of a novel homozygous SPG7 mutation by whole exome sequencing in a Greek family with a complicated form of hereditary spastic paraplegia
|
Daoud, Hussein
|
|
2015
|
58 |
11 |
p. 573-577
5 p.
|
article
|
| 9 |
Microdeletion 8q22.2-q22.3 in a 40-year-old male
|
Sinajon, Pierre
|
|
2015
|
58 |
11 |
p. 569-572
4 p.
|
article
|
| 10 |
Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletions
|
Kamien, Benjamin
|
|
2015
|
58 |
11 |
p. 629-633
5 p.
|
article
|
| 11 |
7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature
|
Caselli, Rossella
|
|
2015
|
58 |
11 |
p. 578-583
6 p.
|
article
|
| 12 |
15q11.2 microdeletion and hypoplastic left heart syndrome
|
Barone, Chiara
|
|
2015
|
58 |
11 |
p. 608-610
3 p.
|
article
|
| 13 |
Use of high-throughput targeted exome-sequencing to screen for copy number variation in hypertrophic cardiomyopathy
|
Lopes, L.R.
|
|
2015
|
58 |
11 |
p. 611-616
6 p.
|
article
|
Journal description