Detalhe da pesquisa
1.
The miniature CRISPR-Cas12m effector binds DNA to block transcription.
Mol Cell
; 82(23): 4487-4502.e7, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36427491
2.
PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice.
Hum Mol Genet
; 2024 Mar 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38520741
3.
Exploring miRNA-target gene pair detection in disease with coRmiT.
Brief Bioinform
; 25(2)2024 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38436559
4.
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.
Hum Mol Genet
; 32(6): 917-933, 2023 03 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36190515
5.
Metabolic Rewiring and Altered Glial Differentiation in an iPSC-Derived Astrocyte Model Derived from a Nonketotic Hyperglycinemia Patient.
Int J Mol Sci
; 25(5)2024 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38474060
6.
The Genetic Landscape and Epidemiology of Phenylketonuria.
Am J Hum Genet
; 107(2): 234-250, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32668217
7.
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Mol Genet Metab
; 139(3): 107624, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37348148
8.
Pathogenic variants of the coenzyme A biosynthesis-associated enzyme phosphopantothenoylcysteine decarboxylase cause autosomal-recessive dilated cardiomyopathy.
J Inherit Metab Dis
; 46(2): 261-272, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36564894
9.
Neuropathological Findings in Short-Chain enoyl-CoA Hydratase 1 Deficiency (ECHS1D): Case Report and Differential Diagnosis.
Pediatr Dev Pathol
; 26(2): 138-143, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36515364
10.
Dual latent tuberculosis screening with tuberculin skin tests and QuantiFERON-TB assays before TNF-α inhibitor initiation in children in Spain.
Eur J Pediatr
; 182(1): 307-317, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36335186
11.
What do I want to feel? Emotion goals in childhood, adolescence, and adulthood.
Child Dev
; 94(1): 315-328, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36045615
12.
The effect of face mask wearing on language processing and emotion recognition in young children.
J Exp Child Psychol
; 226: 105580, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36347070
13.
Streamlined CRISPR genome engineering in wild-type bacteria using SIBR-Cas.
Nucleic Acids Res
; 49(19): 11392-11404, 2021 11 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34614191
14.
Dysregulated Cell Homeostasis and miRNAs in Human iPSC-Derived Cardiomyocytes from a Propionic Acidemia Patient with Cardiomyopathy.
Int J Mol Sci
; 24(3)2023 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36768524
15.
Hyperuricaemia Does Not Interfere with Aortopathy in a Murine Model of Marfan Syndrome.
Int J Mol Sci
; 24(14)2023 Jul 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37511051
16.
Mucosal Immune Defence Gene Polymorphisms as Relevant Players in the Pathogenesis of IgA Vasculitis?
Int J Mol Sci
; 24(17)2023 Aug 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37685869
17.
Severe outbreak of ulcerative colitis and cerebral neoplasia. Difficult management in COVID time.
Rev Esp Enferm Dig
; 115(11): 657, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36926936
18.
A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones.
Hum Mutat
; 43(10): 1430-1442, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35789514
19.
The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1.
Clin Genet
; 102(1): 40-55, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35388452
20.
Insight on molecular pathogenesis and pharmacochaperoning potential in phosphomannomutase 2 deficiency, provided by novel human phosphomannomutase 2 structures.
J Inherit Metab Dis
; 45(2): 318-333, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34859900