Detalhe da pesquisa
1.
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.
Genet Med
; 18(12): 1226-1234, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27101134
2.
Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1.
Neurology
; 101(9): e879-e891, 2023 08 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37407264
3.
Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy.
Brain
; 133(Pt 7): 2123-35, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20554658
4.
Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study.
Orphanet J Rare Dis
; 11(1): 104, 2016 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-27473762
5.
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
6.
Management of pneumatosis coli with free intraperitoneal gas mimicking abdominal hollow organ perforation in a 13-year-old patient following bone marrow transplantation.
Dig Dis Sci
; 48(8): 1542-4, 2003 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-12924650