Turnitin
降AI改写
早检测系统
早降重系统
Turnitin-UK版
万方检测-期刊版
维普编辑部版
Grammarly检测
Paperpass检测
checkpass检测
PaperYY检测
Diagnosis, prognosis, and treatment of leukodystrophies
Leukodystrophies comprise a large group of rare genetic disorders primarily affecting CNS
white matter. Historically, the diagnostic process was slow and patient prognosis regarded …
white matter. Historically, the diagnostic process was slow and patient prognosis regarded …
Adulthood leukodystrophies
The leukodystrophies are a group of inherited white matter disorders with a heterogeneous
genetic background, considerable phenotypic variability and disease onset at all ages. This …
genetic background, considerable phenotypic variability and disease onset at all ages. This …
Structure of the human respiratory complex II
Z Du, X Zhou, Y Lai, J Xu, Y Zhang, S Zhou… - Proceedings of the …, 2023 - pnas.org
Human complex II is a key protein complex that links two essential energy-producing
processes: the tricarboxylic acid cycle and oxidative phosphorylation. Deficiencies due to …
processes: the tricarboxylic acid cycle and oxidative phosphorylation. Deficiencies due to …
Patient-iPSC-derived kidney organoids show functional validation of a ciliopathic renal phenotype and reveal underlying pathogenetic mechanisms
Despite the increasing diagnostic rate of genomic sequencing, the genetic basis of more
than 50% of heritable kidney disease remains unresolved. Kidney organoids differentiated …
than 50% of heritable kidney disease remains unresolved. Kidney organoids differentiated …
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications
G Schobers, JH Schieving, HG Yntema, M Pennings… - Genome medicine, 2022 - Springer
Background Approximately two third of patients with a rare genetic disease remain
undiagnosed after exome sequencing (ES). As part of our post-test counseling procedures …
undiagnosed after exome sequencing (ES). As part of our post-test counseling procedures …
GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
M Okubo, H Doi, R Fukai, A Fujita… - Annals of …, 2019 - Wiley Online Library
Leukoencephalopathies comprise a broad spectrum of disorders, but the genetic
background of adult leukoencephalopathies has rarely been assessed. In this study, we …
background of adult leukoencephalopathies has rarely been assessed. In this study, we …
De novo mutations and rare variants occurring in NMDA receptors
Highlights•NMDAR rare variants are associated with various neuropsychiatric
disorders.•Functional consequences of variants differ among domains.•Evaluation of …
disorders.•Functional consequences of variants differ among domains.•Evaluation of …
Pediatric palliative care in infants and neonates
The application of palliative and hospice care to newborns in the neonatal intensive care
unit (NICU) has been evident for over 30 years. This article addresses the history, current …
unit (NICU) has been evident for over 30 years. This article addresses the history, current …
Clinical application of next-generation sequencing to the practice of neurology
Next-generation sequencing technologies allow for rapid and inexpensive large-scale
genomic analysis, creating unprecedented opportunities to integrate genomic data into the …
genomic analysis, creating unprecedented opportunities to integrate genomic data into the …
A population‐based cost‐effectiveness study of early genetic testing in severe epilepsies of infancy
KB Howell, S Eggers, K Dalziel, J Riseley… - …, 2018 - Wiley Online Library
Objective The severe epilepsies of infancy (SEI) are a devastating group of disorders that
pose a major care and economic burden on society; early diagnosis is critical for optimal …
pose a major care and economic burden on society; early diagnosis is critical for optimal …