Detalhe da pesquisa
1.
Autologous Ex Vivo Lentiviral Gene Therapy for Adenosine Deaminase Deficiency.
N Engl J Med
; 384(21): 2002-2013, 2021 05 27.
Artigo
Inglês
| MEDLINE | ID: mdl-33974366
2.
Further case of enlarged spinal nerve roots in KRAS-related Noonan syndrome.
Clin Genet
; 104(1): 136-138, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-36757675
3.
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.
Clin Genet
; 104(5): 528-541, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37455656
4.
Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death.
Eur Heart J
; 43(15): 1500-1510, 2022 04 14.
Artigo
Inglês
| MEDLINE | ID: mdl-34557911
5.
Validation and cross-cultural adaptation of the Italian version of the paediatric eating assessment tool (I-PEDI-EAT-10) in genetic syndromes.
Int J Lang Commun Disord
; 2023 Nov 19.
Artigo
Inglês
| MEDLINE | ID: mdl-37982346
6.
Chest Radiographs for Distinguishing ADA-SCID from Other Forms of SCID.
J Clin Immunol
; 40(2): 259-266, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31858364
7.
The combination of bortezomib with chemotherapy to treat relapsed/refractory acute lymphoblastic leukaemia of childhood.
Br J Haematol
; 176(4): 629-636, 2017 02.
Artigo
Inglês
| MEDLINE | ID: mdl-28116786
8.
Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature.
Genes (Basel)
; 15(3)2024 Mar 08.
Artigo
Inglês
| MEDLINE | ID: mdl-38540405
9.
Insights into the Cardiac Phenotype in 9p Deletion Syndrome: A Multicenter Italian Experience and Literature Review.
Genes (Basel)
; 14(1)2023 01 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36672887
10.
Metabolic Profile of Patients with Smith-Magenis Syndrome: An Observational Study with Literature Review.
Children (Basel)
; 10(9)2023 Aug 25.
Artigo
Inglês
| MEDLINE | ID: mdl-37761412
11.
What to Expect of Feeding Abilities and Nutritional Aspects in Achondroplasia Patients: A Narrative Review.
Genes (Basel)
; 14(1)2023 01 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36672940
12.
From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 Syndrome.
Genes (Basel)
; 14(10)2023 09 22.
Artigo
Inglês
| MEDLINE | ID: mdl-37895192
13.
Case Report: Challenges of Non-Invasive Prenatal Testing (NIPT): A Case Report of Confined Placental Mosaicism and Clinical Considerations.
Front Genet
; 13: 881284, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35646091
14.
Aberrant N-myristoylation as a prelude to autoimmune manifestations in patients with SHOC2 mutations.
Autoimmun Rev
; 22(11): 103462, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37793491
15.
Vitamin D and skeletal health in autoimmune bullous skin diseases: a case control study.
Orphanet J Rare Dis
; 10: 8, 2015 Feb 03.
Artigo
Inglês
| MEDLINE | ID: mdl-25644263
16.
Pyoderma gangrenosum: study of 21 patients and proposal of a 'clinicotherapeutic' classification.
J Dermatolog Treat
; 22(5): 254-60, 2011 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-20666672
17.
Topical tacrolimus for the treatment of localized, idiopathic, newly diagnosed pyoderma gangrenosum.
J Dermatolog Treat
; 21(3): 140-3, 2010 May.
Artigo
Inglês
| MEDLINE | ID: mdl-19903010
18.
Microencapsulated chloroperoxidase as a recyclable catalyst for the enantioselective oxidation of sulfides with hydrogen peroxide.
Angew Chem Int Ed Engl
; 43(31): 4097-9, 2004 Aug 06.
Artigo
Inglês
| MEDLINE | ID: mdl-15300705
19.
Highly dispersed gold on zirconia: characterization and activity in low-temperature water gas shift tests.
ChemSusChem
; 1(4): 320-6, 2008.
Artigo
Inglês
| MEDLINE | ID: mdl-18605097
20.
Pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa (PAPASH): a new autoinflammatory syndrome associated with a novel mutation of the PSTPIP1 gene.
JAMA Dermatol
; 149(6): 762-4, 2013 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-23571383