Detalhe da pesquisa
1.
Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans.
Hum Mol Genet
; 31(3): 362-375, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34494102
2.
De novo enhancer deletion of LMX1B produces a mild nail-patella clinical phenotype.
Clin Genet
; 105(2): 214-219, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37899549
3.
Bi-allelic LoF NRROS Variants Impairing Active TGF-ß1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification.
Am J Hum Genet
; 106(4): 559-569, 2020 04 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32197075
4.
Strengthening and expanding health inequality monitoring for the advancement of health equity: a review of WHO resources and contributions.
Int J Equity Health
; 22(1): 49, 2023 03 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36932363
5.
Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma.
Int J Mol Sci
; 24(4)2023 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36834994
6.
CDKL5 deficiency disorder: molecular insights and mechanisms of pathogenicity to fast-track therapeutic development.
Biochem Soc Trans
; 50(4): 1207-1224, 2022 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-35997111
7.
Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency.
J Inherit Metab Dis
; 45(6): 1028-1038, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35866541
8.
Education-related inequalities in beliefs and behaviors pertaining to COVID-19 non-pharmaceutical interventions.
Int J Equity Health
; 21(Suppl 3): 158, 2022 11 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36357891
9.
Health Inequality Monitoring channel on OpenWHO: capacity strengthening through eLearning.
Int J Equity Health
; 21(1): 133, 2022 09 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36100901
10.
Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function.
Int J Mol Sci
; 23(2)2022 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35055180
11.
Abnormalities of mitochondrial dynamics and bioenergetics in neuronal cells from CDKL5 deficiency disorder.
Neurobiol Dis
; 155: 105370, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33905871
12.
Subnational inequalities in diphtheria-tetanus-pertussis immunization in 24 countries in the African Region.
Bull World Health Organ
; 99(9): 627-639, 2021 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34475600
13.
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
Brain
; 143(1): 112-130, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31794024
14.
Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A).
Hum Mutat
; 41(10): 1761-1774, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32652677
15.
NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.
Brain
; 142(1): 50-58, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30576410
16.
Effectiveness of upgraded maternity waiting homes and local leader training on improving institutional births: a cluster-randomized controlled trial in Jimma, Ethiopia.
BMC Public Health
; 20(1): 1593, 2020 Oct 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33092565
17.
"Everything Is Perfect, and We Have No Problems": Detecting and Limiting Social Desirability Bias in Qualitative Research.
Qual Health Res
; 30(5): 783-792, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31830860
18.
WHO releases Health Inequality Data Repository.
Lancet
; 401(10388): 1565-1566, 2023 05 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37179107
19.
Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child.
Mol Genet Metab
; 126(1): 77-82, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30558828
20.
Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements.
Clin Genet
; 95(3): 403-408, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30417326