Detalhe da pesquisa
1.
Cohesin complex-associated holoprosencephaly.
Brain
; 142(9): 2631-2643, 2019 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31334757
2.
Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.
Am J Hum Genet
; 95(2): 227-34, 2014 Aug 07.
Artigo
Inglês
| MEDLINE | ID: mdl-25105227
3.
Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.
Am J Hum Genet
; 92(1): 137-43, 2013 Jan 10.
Artigo
Inglês
| MEDLINE | ID: mdl-23273567
4.
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
Hum Mutat
; 31(10): 1142-54, 2010 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-20672375
5.
Cerebellar ataxia with progressive improvement.
Arch Neurol
; 63(4): 594-7, 2006 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-16606775
6.
Endovascular treatment of spinal arteriovenous fistula in a young child with hereditary hemorrhagic telangiectasia. Case report.
J Neurosurg
; 103(5 Suppl): 462-5, 2005 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-16302622
7.
Heterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription factor gene NKX2-1.
Chest
; 144(3): 794-804, 2013 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-23430038
8.
Enchondroma of the skull base secondary to generalized enchondromatosis: a case report and review of the literature.
Ear Nose Throat J
; 90(11): 535-7, 2011 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-22109922
9.
Selective IgM deficiency and 22q11.2 deletion syndrome.
Ann Allergy Asthma Immunol
; 99(1): 87-92, 2007 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-17650836
10.
A tribute to our teacher, Dr. Judith Hall: a child with the trait of the Earl of Shrewsbury.
Am J Med Genet A
; 140(2): 156-9, 2006 Jan 15.
Artigo
Inglês
| MEDLINE | ID: mdl-16353259