Detalhe da pesquisa
1.
Spatial tuning of electrophysiological responses to multisensory stimuli reveals a primitive coding of the body boundaries in newborns.
Proc Natl Acad Sci U S A
; 118(12)2021 03 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33798099
2.
Adult experiences in Beckwith-Wiedemann syndrome.
Am J Med Genet C Semin Med Genet
; 193(2): 116-127, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37163416
3.
Chronic subdural hematoma: A previously unreported life-threatening complication in adult with Sotos syndrome.
Am J Med Genet A
; 182(12): 3052-3055, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33052010
4.
NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations.
Hum Mutat
; 40(6): 721-728, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30825388
5.
Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus.
Genet Med
; 21(8): 1808-1820, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30635621
6.
Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome.
Am J Med Genet A
; 179(9): 1691-1702, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31339634
7.
Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant.
Eur J Hum Genet
; 2024 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38824260
8.
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.
Eur J Hum Genet
; 2024 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38824261
9.
Granulomatous inflammation in inborn errors of immunity.
Front Pediatr
; 11: 1110115, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36891233
10.
Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros).
Eur J Hum Genet
; 31(11): 1333-1336, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37365400
11.
Work-Up and Treatment Strategies for Individuals with PIK3CA-Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS Association.
Genes (Basel)
; 14(12)2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38136956
12.
Mulibrey nanism and immunological complications: a comprehensive case report and literature review.
Front Immunol
; 14: 1303251, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38116000
13.
Intestinal ultrasonography in pediatric population.
Minerva Pediatr (Torino)
; 2021 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33871250