Detalhe da pesquisa
1.
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature.
Eur J Pediatr
; 181(1): 171-187, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34232366
2.
Temporal lobe malformations, focal epilepsy, and FGFR3 mutations: a non-causal association?
Neurol Sci
; 42(5): 2063-2067, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33389251
3.
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.
Genet Med
; 20(9): 965-975, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29300384
4.
A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic Analysis.
Genes (Basel)
; 14(1)2023 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36672860
5.
Co-occurrence of Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism?
Front Cell Dev Biol
; 11: 1237629, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37635873
6.
Different Mechanisms Cause Hypomethylation of Both H19 and KCNQ1OT1 Imprinted Differentially Methylated Regions in Two Cases of Silver-Russell Syndrome Spectrum.
Genes (Basel)
; 13(10)2022 10 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36292759
7.
Acute disseminated encephalomyelitis in a patient with Noonan syndrome: A rare autoinflammatory complication or coincidence?
Eur J Med Genet
; 64(9): 104284, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34242782
8.
Fibrodysplasia Ossificans Progressiva: A Challenging Diagnosis.
Genes (Basel)
; 12(8)2021 07 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34440363
9.
Systemic Cat-Scratch Disease: a "Troublesome" Diagnosis.
Pediatr Infect Dis J
; 40(3): e117-e119, 2021 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33230057
10.
Pseudo Prune Belly syndrome: a case report with unilateral abdominal defect.
Radiol Case Rep
; 14(8): 941-945, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31193917
11.
Scurvy in childhood: do not forget it.
Minerva Pediatr (Torino)
; 74(3): 378-380, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32639115
12.
Crohn-Like Colitis in a Young Boy With Hirschsprung Disease.
Inflamm Bowel Dis
; 27(9): e112-e113, 2021 Aug 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34003268
13.
A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form).
Clin Dysmorphol
; 14(1): 13-18, 2005 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-15602087
14.
Prenatal diagnosis of Fraser syndrome: a matter of life or death?
Ital J Pediatr
; 41: 86, 2015 Nov 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26552811
15.
Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocation.
Mol Cytogenet
; 8: 50, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26175800
16.
Unbalanced translocation (3;5)(q26.1;p14): a clinical report.
Am J Med Genet
; 110(4): 353-8, 2002 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-12116209
17.
Effects of sample storage on 7- and 8-dehydrocholesterol levels analysed on whole blood spots by gas chromatography-mass spectrometry-selected ion monitoring.
J Chromatogr B Analyt Technol Biomed Life Sci
; 766(2): 365-70, 2002 Jan 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-11824824
18.
Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations.
Am J Med Genet A
; 146A(9): 1230-3, 2008 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18386804
19.
Constitutional 11q14-q22 chromosome deletion syndrome in a child with neuroblastoma MYCN single copy.
Eur J Med Genet
; 56(11): 626-34, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24035971
20.
Therapeutic approach to bronchiolitis: why pediatricians continue to overprescribe drugs?
Ital J Pediatr
; 36: 67, 2010 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20920314