Detalhe da pesquisa
1.
Effect of everolimus on skin lesions in patients treated for subependymal giant cell astrocytoma and renal angiomyolipoma: final 4-year results from the randomized EXIST-1 and EXIST-2 studies.
J Eur Acad Dermatol Venereol
; 32(10): 1796-1803, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-29569806
2.
22q13.3 deletion syndrome: clinical and molecular analysis using array CGH.
Am J Med Genet A
; 152A(3): 573-81, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20186804
3.
Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment.
J Med Genet
; 46(12): 825-33, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19584063
4.
Abnormal sudomotor function in the hypomelanotic macules of tuberous sclerosis complex.
J Child Neurol
; 15(8): 529-32, 2000 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-10961791
5.
Early diagnosis of subependymal giant cell astrocytoma in patients with tuberous sclerosis.
J Child Neurol
; 13(4): 173-7, 1998 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-9568761
6.
Somatosensory evoked potential monitoring of peripheral nerves during external fixation for limb lengthening and correction of deformity in children.
J Bone Joint Surg Br
; 94(10): 1421-6, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23015572
7.
Tuberous sclerosis complex.
Curr Opin Neurol
; 13(2): 115-9, 2000 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-10987566
8.
Felbamate urolithiasis.
Epilepsia
; 42(5): 682-5, 2001 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-11380578
9.
Renal lesion growth in children with tuberous sclerosis complex.
J Urol
; 160(1): 141-5, 1998 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-9628635
10.
Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene.
Ann Neurol
; 47(4): 517-20, 2000 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-10762165
11.
Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa-responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiency.
J Inherit Metab Dis
; 22(3): 213-5, 1999 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-10384370