Detalhe da pesquisa
1.
Enrichment of Immune Dysregulation Disorders in Adult Patients with Human Inborn Errors of Immunity.
J Clin Immunol
; 44(3): 61, 2024 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38363452
2.
Two siblings with uncombable hair syndrome: A new pathogenic variant.
Pediatr Dermatol
; 2024 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38456245
3.
TCF3 haploinsufficiency defined by immune, clinical, gene-dosage, and murine studies.
J Allergy Clin Immunol
; 152(3): 736-747, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37277074
4.
Novel Germline TET2 Mutations in Two Unrelated Patients with Autoimmune Lymphoproliferative Syndrome-Like Phenotype and Hematologic Malignancy.
J Clin Immunol
; 43(1): 165-180, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36066697
5.
First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center.
Neurogenetics
; 22(4): 343-346, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34296368
6.
Conformational features of secondary N-cyclopropyl amides.
J Org Chem
; 80(8): 3914-20, 2015 Apr 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-25803271
7.
Clinical and Genetic Analysis of Patients With TK2 Deficiency.
Neurol Genet
; 10(2): e200138, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38544965
8.
Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review.
Pediatr Neurol
; 155: 8-17, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38569228
9.
Determination of magnitudes and relative signs of 1H-19F coupling constants through 1D- and 2D-TOCSY experiments.
J Org Chem
; 78(24): 12844-7, 2013 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-24195699
10.
CLIP-HSQMBC: easy measurement of small proton-carbon coupling constants in organic molecules.
Org Biomol Chem
; 11(27): 4473-8, 2013 Jul 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-23715525
11.
Alström syndrome: Two clinical cases with two novel pathogenic variants.
Eur J Ophthalmol
; 33(4): NP27-NP31, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-36112829
12.
Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the PERP Gene Associated with Autosomal Recessive Erythrokeratoderma.
Genes (Basel)
; 14(7)2023 07 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37510397
13.
Activation of the human insulin receptor by non-insulin-related peptides.
Nat Commun
; 13(1): 5695, 2022 09 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36171189
14.
Measurement of long-range proton-carbon coupling constants from pure in-phase 1D multiplets.
Magn Reson Chem
; 49(8): 502-7, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21751246
15.
Air quality variations in Northern South America during the COVID-19 lockdown.
Sci Total Environ
; 749: 141621, 2020 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-32822915
16.
Assignment of absolute configuration on the basis of the conformational effects induced by chiral derivatizing agents: the 2-arylpyrrolidine case.
Org Lett
; 9(21): 4123-6, 2007 Oct 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-17887687
17.
Conformational behaviour of glycomimetics: NMR and molecular modelling studies of the C-glycoside analogue of the disaccharide methyl beta-D-galactopyranosyl-(1-->3)-beta-D-glucopyranoside.
Carbohydr Res
; 342(12-13): 1910-7, 2007 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-17517384
18.
Conformational flexibility around the Gal-ß-(1 â 3)-Glc linkage: Experimental evidence for the existence of the anti-ψ conformation in aqueous solution.
Carbohydr Res
; 433: 36-40, 2016 Oct 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27434833
19.
Protein-Observed Fluorine NMR Is a Complementary Ligand Discovery Method to 1H CPMG Ligand-Observed NMR.
ACS Chem Biol
; 11(11): 3154-3164, 2016 11 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-27627661
20.
Riesgo cardiovascular en la mujer diabética / Cardiovascular risk in the diabetic woman
Rev. colomb. cardiol
; 28(5): 404-409, sep.-oct. 2021.
Artigo
em Espanhol
| LILACS, COLNAL | ID: biblio-1357206