Detalhe da pesquisa
1.
Natural history of KBG syndrome in a large European cohort.
Hum Mol Genet
; 31(24): 4131-4142, 2022 12 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35861666
2.
Long-term safety and efficacy of velmanase alfa treatment in children under 6 years of age with alpha-mannosidosis: A phase 2, open label, multicenter study.
J Inherit Metab Dis
; 46(4): 705-719, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36849760
3.
Type I spinal muscular atrophy patients treated with nusinersen: 4-year follow-up of motor, respiratory and bulbar function.
Eur J Neurol
; 30(6): 1755-1763, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36880698
4.
Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects.
Am J Med Genet A
; 188(5): 1384-1395, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35025139
5.
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.
Am J Med Genet A
; 188(1): 272-282, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34515416
6.
Could the MED13 mutations manifest as a Kabuki-like syndrome?
Am J Med Genet A
; 185(2): 584-590, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33258286
7.
Selumetinib side effects in children treated for plexiform neurofibromas: first case reports of peripheral edema and hair color change.
BMC Pediatr
; 21(1): 67, 2021 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33549085
8.
Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A).
Hum Mutat
; 41(10): 1761-1774, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32652677
9.
Remnant cholesterol as a risk factor for cardiovascular, cancer or other causes mortality: A competing risks analysis.
Nutr Metab Cardiovasc Dis
; 30(11): 2093-2102, 2020 10 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32819783
10.
Reducing NAFLD-screening time: A comparative study of eight diagnostic methods offering an alternative to ultrasound scans.
Liver Int
; 39(1): 187-196, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30248233
11.
A child without kneecaps.
J Paediatr Child Health
; 58(3): 550, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35244310
12.
Ulnar Pseudarthrosis in a Child with Type 1 Neurofibromatosis.
J Pediatr
; 239: 240-241, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34411599
13.
Juvenile xanthogranuloma: A possible diagnostic criterion for Neurofibromatosis type 1 in young children.
Am J Med Genet A
; 185(12): 3895-3896, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34250743
14.
A child without kneecaps.
J Paediatr Child Health
; 2021 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33961326
15.
A Child With Self-Improving Hypotonia: Look at the Skin!
J Pediatr
; 225: 269-270, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32511961
16.
Beneficial effect of gabapentin in two children with Noonan syndrome and early-onset neuropathic pain.
Am J Med Genet A
; 182(8): 1990-1992, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32627323
17.
Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.
Am J Med Genet A
; 164A(1): 42-7, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24273071
18.
Characterization of Cardiac Function by Echocardiographic Global Longitudinal Strain in a Cohort of Children with Neurofibromatosis Type 1 Treated with Selumetinib.
Paediatr Drugs
; 25(2): 217-224, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36529809
19.
Measuring Knowledge of Healthcare Providers on Pediatric Palliative Care with an Online Questionnaire Based on the National Core Curriculum in Italy.
Healthcare (Basel)
; 11(13)2023 Jul 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37444805
20.
A new family with a case of severe early-onset muscle fatigue and a peculiar maternally inherited painful swelling in chewing muscles associated with homoplasmic m.15992A>T mutation in mitochondrial tRNAPro.
Neuromuscul Disord
; 33(12): 972-977, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38030461