Detalhe da pesquisa
1.
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome.
Hum Mutat
; 38(4): 451-459, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28074573
2.
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.
Genet Med
; 19(6): 691-700, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27831545
3.
CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases.
Am J Med Genet A
; 164A(10): 2557-66, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25123255
4.
Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype.
Am J Med Genet A
; 161A(2): 273-84, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23322667
5.
Auditory system involvement in late onset Pompe disease: a study of 20 Italian patients.
Mol Genet Metab
; 107(3): 480-4, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22958975
6.
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria.
Am J Med Genet A
; 155A(7): 1536-45, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21671391
7.
Kabuki syndrome and cancer in two patients.
Am J Med Genet A
; 152A(6): 1536-9, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20503331
8.
"CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases" American Journal of Medical Genetics Part A. 164:2557-2566, 2014.
Am J Med Genet A
; 167(7): 1682-3, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26097173
9.
The theory of the 'mana personality' in Jung's works: a historic-hermeneutic perspective. Part II.
J Anal Psychol
; 65(3): 519-537, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32406943
10.
The construct of the 'mana personality' in Jung's works: a historic-hermeneutic perspective. Part I.
J Anal Psychol
; 65(2): 366-388, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-32170746
11.
Mucopolysaccharidosis VI: the Italian experience.
Eur J Pediatr
; 168(10): 1203-6, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19130082
12.
Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia.
Am J Med Genet A
; 146A(16): 2103-8, 2008 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18629883
13.
A double-blind, parallel, multicenter comparison of L-acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boys.
Am J Med Genet A
; 146A(7): 803-12, 2008 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18286595
14.
Recurrent facial nerve palsy associated with anti-GQ1b IgG antibodies.
Brain Dev
; 30(9): 606-8, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18396001
15.
Subgaleal hematoma in a child with Sturge-Weber syndrome: to prevent stroke-like episodes, is treatment with aspirin advisable?
Childs Nerv Syst
; 24(12): 1479-81, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18575872
16.
Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily.
Int J Neonatal Screen
; 4(2): 12, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33072938
17.
A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region.
Hum Mutat
; 28(7): 742, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17579360
18.
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16.
Hum Genet
; 122(5): 423-30, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17676343
19.
Cutaneous vasculitis associated with Mycoplasma pneumoniae infection: case report and literature review.
Clin Pediatr (Phila)
; 46(5): 451-3, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17556745
20.
Co-infection with Mycoplasma pneumoniae and cytomegalovirus resulting in an acute demyelinating polyneuropathy in a pediatric patient.
Turk J Pediatr
; 49(3): 331-3, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17990593