| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
Analysis of tissue from products of conception and perinatal losses using QF-PCR and microarray: A three-year retrospective study resulting in an efficient protocol
|
Wou, K.
|
|
2016
|
59 |
8 |
p. 417-424
8 p.
|
article
|
| 2 |
A novel frameshift mutation of DDHD1 in a Japanese patient with autosomal recessive spastic paraplegia
|
Miura, Shiroh
|
|
2016
|
59 |
8 |
p. 413-416
4 p.
|
article
|
| 3 |
A novel nonsense mutation in LMNA gene identified by Exome Sequencing in an atrial fibrillation family
|
Zhao, Jinzhao
|
|
2016
|
59 |
8 |
p. 396-400
5 p.
|
article
|
| 4 |
A novel SMARCAL1 missense mutation that affects splicing in a severely affected Schimke immunoosseous dysplasia patient
|
Barraza-García, Jimena
|
|
2016
|
59 |
8 |
p. 363-366
4 p.
|
article
|
| 5 |
Duplications of SLC1A3: Associated with ADHD and autism
|
van Amen-Hellebrekers, Claudia J.M.
|
|
2016
|
59 |
8 |
p. 373-376
4 p.
|
article
|
| 6 |
Identification of novel mutations in CD2BP1 gene in clinically proven rheumatoid arthritis patients of south India
|
Kumar, Bhattaram Siddhartha
|
|
2016
|
59 |
8 |
p. 404-412
9 p.
|
article
|
| 7 |
Lipid profiles in a large cohort of Italian children with Down syndrome
|
Buonuomo, Paola Sabrina
|
|
2016
|
59 |
8 |
p. 392-395
4 p.
|
article
|
| 8 |
MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum
|
Bader, Ingrid
|
|
2016
|
59 |
8 |
p. 386-391
6 p.
|
article
|
| 9 |
Multiple giant cell lesions in a patient with Noonan syndrome with multiple lentigines
|
van den Berg, Henk
|
|
2016
|
59 |
8 |
p. 425-428
4 p.
|
article
|
| 10 |
Mutations in MSX1, PAX9 and MMP20 genes in Saudi Arabian patients with tooth agenesis
|
Shahid, Mohammad
|
|
2016
|
59 |
8 |
p. 377-385
9 p.
|
article
|
| 11 |
The molecular characterization of Beta globin gene in thalassemia patients reveals rare and a novel mutations in Pakistani population
|
Yasmeen, Humaira
|
|
2016
|
59 |
8 |
p. 355-362
8 p.
|
article
|
| 12 |
Two male sibs with severe micrognathia and a missense variant in MED12
|
Prescott, Trine E.
|
|
2016
|
59 |
8 |
p. 367-372
6 p.
|
article
|
| 13 |
Two patients with chromosome 22q11.2 deletion presenting with childhood obesity and hyperphagia
|
Bassett, J.K.
|
|
2016
|
59 |
8 |
p. 401-403
3 p.
|
article
|
Journal description