| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency
|
Han, Lianshu
|
|
2014
|
57 |
10 |
p. 571-575
5 p.
|
article
|
| 2 |
A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX
|
Ansari, Morad
|
|
2014
|
57 |
10 |
p. 587-595
9 p.
|
article
|
| 3 |
Clinical and molecular description of a 17q21.33 microduplication in a girl with severe kyphoscoliosis and developmental delay
|
Kemeny, Stéphan
|
|
2014
|
57 |
10 |
p. 552-557
6 p.
|
article
|
| 4 |
Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome
|
Kaasinen, Eevi
|
|
2014
|
57 |
10 |
p. 543-551
9 p.
|
article
|
| 5 |
Constitutional chromoanasynthesis: description of a rare chromosomal event in a patient
|
Plaisancié, Julie
|
|
2014
|
57 |
10 |
p. 567-570
4 p.
|
article
|
| 6 |
Co-occurrence of congenital hydronephrosis and FOXL2-associated blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)
|
Gulati, Reena
|
|
2014
|
57 |
10 |
p. 576-578
3 p.
|
article
|
| 7 |
Familial co-segregation of Coffin–Lowry syndrome inherited from the mother and autosomal dominant Waardenburg type IV syndrome due to deletion of EDNRB inherited from the father
|
Loupe, Jacob
|
|
2014
|
57 |
10 |
p. 562-566
5 p.
|
article
|
| 8 |
NKX2.5 mutation identification on exome sequencing in a patient with heterotaxy
|
Izumi, Kosuke
|
|
2014
|
57 |
10 |
p. 558-561
4 p.
|
article
|
| 9 |
Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia
|
Ozgul, Rıza Koksal
|
|
2014
|
57 |
10 |
p. 596-601
6 p.
|
article
|
| 10 |
Prevalence and spectrum of Nkx2.6 mutations in patients with congenital heart disease
|
Zhao, Lan
|
|
2014
|
57 |
10 |
p. 579-586
8 p.
|
article
|
Journal description