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A primer on congenital anomalies of the kidneys and urinary tracts (CAKUT)
Congenital anomalies of the kidneys and urinary tracts (CAKUT) are disorders caused by
defects in the development of the kidneys and their outflow tracts. The formation of the …
defects in the development of the kidneys and their outflow tracts. The formation of the …
The genetics and pathogenesis of CAKUT
CM Kolvenbach, S Shril, F Hildebrandt - Nature Reviews Nephrology, 2023 - nature.com
Congenital anomalies of the kidney and urinary tract (CAKUT) comprise a large variety of
malformations that arise from defective kidney or urinary tract development and frequently …
malformations that arise from defective kidney or urinary tract development and frequently …
Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice
N Knoers, C Antignac, C Bergmann… - Nephrology Dialysis …, 2022 - academic.oup.com
The overall diagnostic yield of massively parallel sequencing–based tests in patients with
chronic kidney disease (CKD) is 30% for paediatric cases and 6–30% for adult cases. These …
chronic kidney disease (CKD) is 30% for paediatric cases and 6–30% for adult cases. These …
[KİTAP][B] Pediatric nephrology
ED Avner, W Harmon, P Niaudet, P Niaudet - 2004 - books.google.com
Pediatric Nephrology is the premier comprehensive reference on congenital and acquired
kidney diseases and their therapies in children. Section One opens with an overview of the …
kidney diseases and their therapies in children. Section One opens with an overview of the …
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players
A Domingo-Gallego, M Pybus, G Bullich… - Nephrology Dialysis …, 2022 - academic.oup.com
Background Inherited kidney diseases are one of the leading causes of chronic kidney
disease (CKD) that manifests before the age of 30 years. Precise clinical diagnosis of early …
disease (CKD) that manifests before the age of 30 years. Precise clinical diagnosis of early …
Rare copy-number variants as modulators of common disease susceptibility
Abstract Background Copy-number variations (CNVs) have been associated with rare and
debilitating genomic disorders (GDs) but their impact on health later in life in the general …
debilitating genomic disorders (GDs) but their impact on health later in life in the general …
The genetic basis of congenital anomalies of the kidney and urinary tract
M Kagan, O Pleniceanu, A Vivante - Pediatric Nephrology, 2022 - Springer
During the past decades, remarkable progress has been made in our understanding of the
molecular basis of kidney diseases, as well as in the ability to pinpoint disease-causing …
molecular basis of kidney diseases, as well as in the ability to pinpoint disease-causing …
Clinical genetic screening in adult patients with kidney disease
Expanded accessibility of genetic sequencing technologies, such as chromosomal
microarray and massively parallel sequencing approaches, is changing the management of …
microarray and massively parallel sequencing approaches, is changing the management of …
The prevalence and clinical significance of congenital anomalies of the kidney and urinary tract in preterm infants
T Hays, MV Thompson, DA Bateman, R Sahni… - JAMA Network …, 2022 - jamanetwork.com
Importance The prevalence and importance of congenital anomalies of the kidney and
urinary tract (CAKUT) in preterm infants is unknown. Objective To determine the prevalence …
urinary tract (CAKUT) in preterm infants is unknown. Objective To determine the prevalence …
Medical records-based chronic kidney disease phenotype for clinical care and “big data” observational and genetic studies
Abstract Chronic Kidney Disease (CKD) represents a slowly progressive disorder that is
typically silent until late stages, but early intervention can significantly delay its progression …
typically silent until late stages, but early intervention can significantly delay its progression …