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1.
Genetic landscape of pediatric acute liver failure of indeterminate origin.
Hepatology
; 79(5): 1075-1087, 2024 May 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37976411
2.
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.
Genet Med
; 26(2): 101013, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-37924258
3.
Understanding the informal aspects of medication processes to maintain patient safety in hospitals: a sociotechnical ethnographic study in paediatric units.
Ergonomics
; : 1-15, 2024 Apr 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-38557363
4.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Genet Med
; 25(6): 100314, 2023 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-36305855
5.
Humanizing harm: Using a restorative approach to heal and learn from adverse events.
Health Expect
; 25(4): 1192-1199, 2022 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-35322513
6.
Navigating uncertain illness trajectories for young children with serious infectious illness: a modified grounded theory study.
BMC Health Serv Res
; 22(1): 1103, 2022 Aug 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-36042434
7.
Biomarkers and biosensors for the diagnosis of noncompliant pH, dark cutting beef predisposition, and welfare in cattle.
Compr Rev Food Sci Food Saf
; 21(3): 2391-2432, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35279935
8.
Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland.
J Inherit Metab Dis
; 44(3): 639-655, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33300147
9.
Caring for a sick or injured child during the COVID-19 pandemic lockdown in 2020 in the UK: An online survey of parents' experiences.
Health Expect
; 24(6): 2036-2046, 2021 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-34407286
10.
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1.
Genet Med
; 22(11): 1863-1873, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32699352
11.
Meat color is determined not only by chromatic heme pigments but also by the physical structure and achromatic light scattering properties of the muscle.
Compr Rev Food Sci Food Saf
; 19(1): 44-63, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33319522
12.
Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.
Hum Mutat
; 40(10): 1731-1748, 2019 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-31045291
13.
Catalogue of inherited disorders found among the Irish Traveller population.
J Med Genet
; 55(4): 233-239, 2018 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-29358271
14.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Genet Med
; 25(6): 100828, 2023 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-37272928
15.
Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.
Am J Med Genet A
; 176(5): 1115-1127, 2018 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29575569
16.
Transient MutS-Based Hypermutation System for Adaptive Evolution of Lactobacillus casei to Low pH.
Appl Environ Microbiol
; 83(20)2017 10 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-28802267
17.
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype.
J Med Genet
; 53(9): 634-41, 2016 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-27091925
18.
Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS.
J Inherit Metab Dis
; 38(6): 1085-92, 2015 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-25917789
19.
Eight-month-old girl with feeding difficulties and an enlarged liver.
Arch Dis Child Educ Pract Ed
; 105(6): 369-371, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31073036
20.
It's never too late for 'us' to meet 'them': prior intergroup friendships moderate the impact of later intergroup friendships in educational settings.
Br J Educ Psychol
; 83(Pt 1): 57-75, 2013 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-23369175