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Vein of Galen aneurysmal malformation: rationalizing medical management of neonatal heart failure
Neonates who present in high output heart failure secondary to vein of Galen aneurysmal
malformation can be difficult to manage medically due to the complex physiology that results …
malformation can be difficult to manage medically due to the complex physiology that results …
Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus
Hydrocephalus, characterized by cerebral ventricular dilatation, is routinely attributed to
primary defects in cerebrospinal fluid (CSF) homeostasis. This fosters CSF shunting as the …
primary defects in cerebrospinal fluid (CSF) homeostasis. This fosters CSF shunting as the …
Development and physiological functions of the lymphatic system: insights from human genetic studies of primary lymphedema
S Martin-Almedina, PS Mortimer… - Physiological …, 2021 - journals.physiology.org
Primary lymphedema is a long-term (chronic) condition characterized by tissue lymph
retention and swelling that can affect any part of the body, although it usually develops in the …
retention and swelling that can affect any part of the body, although it usually develops in the …
Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus
Congenital hydrocephalus (CH), characterized by enlarged brain ventricles, is considered a
disease of excessive cerebrospinal fluid (CSF) accumulation and thereby treated with …
disease of excessive cerebrospinal fluid (CSF) accumulation and thereby treated with …
Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations
To elucidate the pathogenesis of vein of Galen malformations (VOGMs), the most common
and most severe of congenital brain arteriovenous malformations, we performed an …
and most severe of congenital brain arteriovenous malformations, we performed an …
TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus
Congenital hydrocephalus, characterized by cerebral ventriculomegaly, is one of the most
common reasons for paediatric brain surgery. Recent studies have implicated lin-41 …
common reasons for paediatric brain surgery. Recent studies have implicated lin-41 …
Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts
Cerebral arachnoid cysts (ACs) are one of the most common and poorly understood types of
developmental brain lesion. To begin to elucidate AC pathogenesis, we performed an …
developmental brain lesion. To begin to elucidate AC pathogenesis, we performed an …
Angiogenesis depends upon EPHB4-mediated export of collagen IV from vascular endothelial cells
Capillary malformation-arteriovenous malformation (CM-AVM) is a blood vascular anomaly
caused by inherited loss-of-function mutations in RASA1 or EPHB4 genes, which encode …
caused by inherited loss-of-function mutations in RASA1 or EPHB4 genes, which encode …
DIAPH1 variants in non–east asian patients with sporadic moyamoya disease
Importance Moyamoya disease (MMD), a progressive vasculopathy leading to narrowing
and ultimate occlusion of the intracranial internal carotid arteries, is a cause of childhood …
and ultimate occlusion of the intracranial internal carotid arteries, is a cause of childhood …
Claudins in renal physiology and pathology
C Prot-Bertoye, P Houillier - Genes, 2020 - mdpi.com
Claudins are integral proteins expressed at the tight junctions of epithelial and endothelial
cells. In the mammalian kidney, every tubular segment express a specific set of claudins that …
cells. In the mammalian kidney, every tubular segment express a specific set of claudins that …