Detalhe da pesquisa
1.
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Am J Hum Genet
; 110(2): 215-227, 2023 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36586412
2.
A Novel LC-MS/MS Method for Therapeutic Drug Monitoring of Baricitinib in Plasma of Pediatric Patients.
Ther Drug Monit
; 46(1): 67-72, 2024 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37752637
3.
De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder.
Am J Hum Genet
; 106(4): 438-452, 2020 04 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32197073
4.
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Am J Hum Genet
; 107(2): 311-324, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32738225
5.
Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder.
Genet Med
; 25(9): 100900, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37226891
6.
[Clinical care pathway appropriateness of the intoxicated paediatric patient: a retrospective evaluation with Poisoning Severity Score]. / Appropriatezza del percorso clinico-assistenziale nel paziente pediatrico intossicato: una valutazione restrospettiva mediante Poisoning Severity Score.
Epidemiol Prev
; 47(1-2): 20-25, 2023.
Artigo
em Italiano
| MEDLINE | ID: mdl-36987931
7.
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.
Am J Hum Genet
; 105(3): 509-525, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31422817
8.
A case of anti-HMGCR myopathy triggered by sodium/glucose co-transporter 2 (SGLT2) inhibitors.
Neurol Sci
; 43(7): 4567-4570, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35391603
9.
Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability.
Hum Mol Genet
; 28(6): 952-960, 2019 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30476144
10.
Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis.
Clin Genet
; 100(3): 329-333, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34037256
11.
Ophthalmic phenotypes associated with biallelic loss-of-function PCDH12 variants.
Am J Med Genet A
; 185(4): 1275-1281, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33527719
12.
Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish.
Hum Mutat
; 41(1): 240-254, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31549751
13.
Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.
Am J Hum Genet
; 100(1): 105-116, 2017 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27939639
14.
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
Genet Med
; 22(3): 538-546, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31723249
15.
Active pharmacovigilance program in patients affected by psoriasis and inflammatory bowel diseasesâ©.
Int J Clin Pharmacol Ther
; 58(4): 208-213, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-32053103
16.
Cannabidiol Determination on Peripheral Capillary Blood Using a Microsampling Method and Ultra-High-Performance Liquid Chromatography Tandem Mass Spectrometry with On-Line Sample Preparation.
Molecules
; 25(16)2020 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32784413
17.
Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient.
Pediatr Res
; 85(3): 384-389, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30420707
18.
Reconstructing the genetic history of Italians: new insights from a male (Y-chromosome) perspective.
Ann Hum Biol
; 45(1): 44-56, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29382284
19.
Pharmacokinetics of high-dose extended-infusion meropenem during pulmonary exacerbation in adult cystic fibrosis patients: a case series.
New Microbiol
; 41(1): 47-51, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29313863
20.
Bromfenac ophthalmic solution 0.09 %: human aqueous humor concentration detected by high-performance liquid chromatography.
Int Ophthalmol
; 37(2): 417-421, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27324371