Detalhe da pesquisa
1.
The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.
Hum Mol Genet
; 21(17): 3765-75, 2012 Sep 01.
Artigo
Inglês
| MEDLINE | ID: mdl-22661499
2.
A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication.
Eur J Hum Genet
; 26(9): 1288-1293, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-29891876
3.
Genital anomalies in a patient with Treacher Collins syndrome.
Am J Med Genet A
; 146A(16): 2169-71, 2008 Aug 15.
Artigo
Inglês
| MEDLINE | ID: mdl-18627048
4.
Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome.
Eur J Hum Genet
; 20(7): 769-77, 2012 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-22317976
5.
Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E.
Am J Hum Genet
; 72(4): 984-97, 2003 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-12649808