Detalles de la búsqueda
1.
Lung adenocarcinoma promotion by air pollutants.
Nature
; 616(7955): 159-167, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-37020004
2.
Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey.
J Med Genet
; 61(4): 305-312, 2024 Mar 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-38154813
3.
The effect of NK3-Saporin injection within the arcuate nucleus on puberty, the LH surge, and the response to Senktide in female sheep.
Biol Reprod
; 110(2): 275-287, 2024 Feb 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-37930247
4.
Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996-2020: development of a national resource of patient-level genomics laboratory records.
J Med Genet
; 60(7): 669-678, 2023 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-36572524
5.
Germline predisposition to haematological malignancies: Best practice consensus guidelines from the UK Cancer Genetics Group (UKCGG), CanGene-CanVar and the NHS England Haematological Oncology Working Group.
Br J Haematol
; 201(1): 25-34, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36744544
6.
Neurocognitive and emotional factors predict pain-related healthcare utilization in children with sickle cell disease.
Pediatr Blood Cancer
; 70(6): e30346, 2023 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-37026487
7.
Feasibility and preliminary efficacy of the Balance Program to reduce pain-related disability in pediatric sickle cell disease.
Pediatr Blood Cancer
; 70(12): e30667, 2023 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-37726889
8.
Children's Oncology Group's 2023 blueprint for research: Behavioral science.
Pediatr Blood Cancer
; 70 Suppl 6: e30557, 2023 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-37430416
9.
Sebaceous carcinoma epidemiology, associated malignancies and Lynch/Muir-Torre syndrome screening in England from 2008 to 2018.
J Am Acad Dermatol
; 89(6): 1129-1135, 2023 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-37031776
10.
Cognitive Functioning and Educational Support Plans in Youth With Sickle Cell Disease.
J Pediatr Hematol Oncol
; 43(5): e666-e676, 2021 07 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33625087
11.
A Randomized Controlled Trial of Working Memory Training in Pediatric Sickle Cell Disease.
J Pediatr Psychol
; 46(8): 1001-1014, 2021 08 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-33824980
12.
Neurocognitive and psychological effects of persistent pain in pediatric sickle cell disease.
Pediatr Blood Cancer
; 66(9): e27823, 2019 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-31131984
13.
Views of parents of children with sickle cell disease on pre-implantation genetic diagnosis.
Pediatr Blood Cancer
; 65(8): e27102, 2018 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-29667775
14.
Cognitive Abilities Moderate the Effect of Disease Severity on Health-Related Quality of Life in Pediatric Sickle Cell Disease.
J Pediatr Psychol
; 43(8): 882-894, 2018 09 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29659914
15.
Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.
Am J Hum Genet
; 95(3): 315-25, 2014 Sep 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-25175347
16.
Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.
J Inherit Metab Dis
; 40(1): 121-130, 2017 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27696117
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.
Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults.
Eur Heart J
; 37(32): 2552-9, 2016 Aug 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-26188002
19.
Characterization of acinar airspace involvement in asthmatic patients by using inert gas washout and hyperpolarized (3)helium magnetic resonance.
J Allergy Clin Immunol
; 137(2): 417-25, 2016 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-26242298
20.
Feasibility of Home-Based Computerized Working Memory Training With Children and Adolescents With Sickle Cell Disease.
Pediatr Blood Cancer
; 63(9): 1578-85, 2016 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-27227457