Detalhe da pesquisa
1.
Genome sequencing in families with congenital limb malformations.
Hum Genet;
140(8): 1229-1239, 2021 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34159400
2.
Investigations of potential susceptibility toward formaldehyde-induced genotoxicity.
Arch Toxicol;
86(9): 1465-73, 2012 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22411273
3.
Non-lethal non-mosaic male with Conradi-Hunermann syndrome caused by a novel EBP c.356T>G mutation.
Am J Med Genet A;
161A(9): 2385-8, 2013 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23852825
4.
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.
Orphanet J Rare Dis;
8: 110, 2013 Jul 24.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23879989