Detalhe da pesquisa
1.
Italian multicentre study found infectious and vaccine-preventable diseases in children adopted from Africa and recommends prompt medical screening.
Acta Paediatr
; 2018 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-29364534
2.
12 year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: the important role of early treatment.
BMC Med Genet
; 17: 19, 2016 Mar 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-26965916
3.
Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations.
Hum Mutat
; 36(3): 357-68, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25545067
4.
Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.
Mol Genet Metab
; 112(4): 310-6, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24913064
5.
Cognitive-motor profile, clinical characteristics and diagnosis of CHARGE syndrome: an Italian experience.
Am J Med Genet A
; 164A(12): 3042-51, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25255904
6.
Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy.
J Inherit Metab Dis
; 34(3): 763-80, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21465231
7.
Oligosaccharides in 4 different milk groups, Bifidobacteria, and Ruminococcus obeum.
J Pediatr Gastroenterol Nutr
; 53(1): 80-7, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21478759
8.
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature.
Hum Mutat
; 30(3): 334-41, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19006240
9.
Mental retardation, facial anomalies, brachydactyly, cerebral angiomas, femoral nucleus necrosis: a new entity or Hall-Riggs syndrome?
Am J Med Genet A
; 149A(5): 1001-5, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19363808
10.
Recurrence and Familial Inheritance of Intronic NIPBL Pathogenic Variant Associated With Mild CdLS.
Front Neurol
; 9: 967, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30538663
11.
Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ.
Clin Chim Acta
; 481: 25-33, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29476735
12.
Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects.
Eur J Hum Genet
; 14(1): 34-8, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16251899
13.
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.
Eur J Hum Genet
; 23(8): 1068-71, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25370043
14.
Optimal position of a long-term central venous catheter tip in a pediatric patient with congenital diseases.
Pediatr Rep
; 4(3): e32, 2012 Jul 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-25396037
15.
Erythema multiforme following live attenuated trivalent measles-mumps-rubella vaccine.
Acta Derm Venereol
; 86(4): 359-60, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16874427