Detalhe da pesquisa
1.
Early onset cardiomyopathy associated with the mitochondrial tRNALeu((UUR)) 3271T>C MELAS mutation.
Biochem Biophys Res Commun
; 458(3): 601-604, 2015 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-25680467
2.
Evaluation of tibial osteopathy occurrence in neurofibromatosis type 1 Italian patients.
Am J Med Genet A
; 161A(5): 927-34, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23463485
3.
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study.
Cancers (Basel)
; 13(8)2021 Apr 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-33919865
4.
Etiology of nonimmune hydrops fetalis: a systematic review.
Am J Med Genet A
; 149A(5): 844-51, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19334091
5.
Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.
Cancers (Basel)
; 11(12)2019 11 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-31766501
6.
Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene.
DNA Cell Biol
; 2018 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30388038
7.
Heterozygous mutations of growth hormone receptor gene in children with idiopathic short stature.
Growth Horm IGF Res
; 15(6): 405-10, 2005 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-16213173
8.
Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients [corrected].
Hum Mutat
; 22(2): 179-80, 2003 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-12872266
9.
Response to rituximab in 3 children with opsoclonus-myoclonus syndrome resistant to conventional treatments.
Eur J Paediatr Neurol
; 16(2): 192-5, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21737325
10.
Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal lymphangiectasia.
Am J Med Genet A
; 132A(2): 202-5, 2005 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15578573