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Disrupted intricacy of histone H3K4 methylation in neurodevelopmental disorders
Methylation of histone H3 lysine 4 (H3K4me) is an intricately regulated posttranslational
modification, which is broadly associated with enhancers and promoters of actively …
modification, which is broadly associated with enhancers and promoters of actively …
Unmasking kabuki syndrome
N Bögershausen, B Wollnik - Clinical genetics, 2013 - Wiley Online Library
The identification of de novo dominant mutations in KMT2D (MLL2) as the main cause of
Kabuki syndrome (KS) has shed new light on the pathogenesis of this well‐delineated …
Kabuki syndrome (KS) has shed new light on the pathogenesis of this well‐delineated …
Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome
Kabuki syndrome (KS) is a rare genetic disease that causes developmental delay and
congenital anomalies. Since the identification of MLL2 mutations as the primary cause of KS …
congenital anomalies. Since the identification of MLL2 mutations as the primary cause of KS …
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X‐Linked Kabuki Syndrome Subtype 2
N Bögershausen, V Gatinois, V Riehmer… - Human …, 2016 - Wiley Online Library
Kabuki syndrome (KS) is a rare but recognizable condition that consists of a characteristic
face, short stature, various organ malformations, and a variable degree of intellectual …
face, short stature, various organ malformations, and a variable degree of intellectual …
Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development
Kabuki syndrome (KS) is a rare multiple congenital anomaly syndrome characterized by
distinctive facial features, global developmental delay, intellectual disability and …
distinctive facial features, global developmental delay, intellectual disability and …
MLL2 and KDM6A mutations in patients with Kabuki syndrome
Kabuki syndrome is a congenital anomaly syndrome characterized by developmental delay,
intellectual disability, specific facial features including long palpebral fissures and ectropion …
intellectual disability, specific facial features including long palpebral fissures and ectropion …
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum
MLL2 mutations are detected in 55 to 80% of patients with Kabuki syndrome (KS). In 20 to
45% patients with KS, the genetic basis remains unknown, suggesting possible genetic …
45% patients with KS, the genetic basis remains unknown, suggesting possible genetic …
Novel KDM6A (UTX) mutations and a clinical and molecular review of the X‐linked Kabuki syndrome (KS2)
We describe seven patients with KDM6A (located on Xp11. 3 and encodes UTX) mutations,
a rare cause of Kabuki syndrome (KS2, MIM 300867) and report, for the first time, germ‐line …
a rare cause of Kabuki syndrome (KS2, MIM 300867) and report, for the first time, germ‐line …
High expression of MMP9 in glioma affects cell proliferation and is associated with patient survival rates
Q Xue, L Cao, XY Chen, J Zhao, L Gao… - Oncology …, 2017 - spandidos-publications.com
Human gliomas are a heterogeneous group of primary malignant brain tumors, which most
commonly occur in the central nervous system of children and adults. Previous studies have …
commonly occur in the central nervous system of children and adults. Previous studies have …
KMT2C/D COMPASS complex-associated diseases [KCDCOM-ADs]: an emerging class of congenital regulopathies
The type 2 lysine methyltransferases KMT2C and KMT2D are large, enzymatically active
scaffold proteins that form the core of nuclear regulatory structures known as KMT2C/D …
scaffold proteins that form the core of nuclear regulatory structures known as KMT2C/D …