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Ocular coloboma: a reassessment in the age of molecular neuroscience
Congenital colobomata of the eye are important causes of childhood visual impairment and
blindness. Ocular coloboma can be seen in isolation and in an impressive number of …
blindness. Ocular coloboma can be seen in isolation and in an impressive number of …
Mowat-Wilson syndrome
L Garavelli, PC Mainardi - Orphanet journal of rare diseases, 2007 - Springer
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized
by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially …
by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially …
Uveal coloboma: clinical and basic science update
L Chang, D Blain, S Bertuzzi… - Current opinion in …, 2006 - journals.lww.com
Optic fissure closure requires precise orchestration in timing and apposition of two poles of
the optic cup. The relative roles of genetics and environment on this process remain elusive …
the optic cup. The relative roles of genetics and environment on this process remain elusive …
ZFHX1B mutations in patients with Mowat‐Wilson syndrome
F Dastot‐Le Moal, M Wilson, D Mowat, N Collot… - Human …, 2007 - Wiley Online Library
Mowat‐Wilson syndrome (MWS) is a recently delineated mental retardation (MR)‐multiple
congenital anomaly syndrome, characterized by typical facies, severe MR, epilepsy, and …
congenital anomaly syndrome, characterized by typical facies, severe MR, epilepsy, and …
Identification of myopia-associated WNT7B polymorphisms provides insights into the mechanism underlying the development of myopia
Myopia can cause severe visual impairment. Here, we report a two-stage genome-wide
association study for three myopia-related traits in 9,804 Japanese individuals, which was …
association study for three myopia-related traits in 9,804 Japanese individuals, which was …
Genes and pathways in optic fissure closure
A Patel, JC Sowden - Seminars in Cell & Developmental Biology, 2019 - Elsevier
Embryonic development of the vertebrate eye begins with the formation of an optic vesicle
which folds inwards to form a double-layered optic cup with a fissure on the ventral surface …
which folds inwards to form a double-layered optic cup with a fissure on the ventral surface …
Clinical and mutational spectrum of Mowat–Wilson syndrome
Mowat–Wilson Syndrome is a recently delineated mental retardation syndrome usually
associated with multiple malformations and a recognizable facial phenotype caused by …
associated with multiple malformations and a recognizable facial phenotype caused by …
Mowat–Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature
L Garavelli, M Zollino, PC Mainardi… - American Journal of …, 2009 - Wiley Online Library
In 1998, Mowat et al. described six patients with a new syndrome characterized by mental
retardation, a distinct facial appearance, microcephaly and Hirschsprung disease (HSCR) …
retardation, a distinct facial appearance, microcephaly and Hirschsprung disease (HSCR) …
The contribution of associated congenital anomalies in understanding Hirschsprung's disease
SW Moore - Pediatric surgery international, 2006 - Springer
Hirschsprung's disease (HSCR) is a complex congenital disorder which, from a molecular
perspective, appears to result due to disruption of normal signalling during development of …
perspective, appears to result due to disruption of normal signalling during development of …
Genome-wide association study identifies ZFHX1B as a susceptibility locus for severe myopia
Severe myopia (defined as spherical equivalent<− 6.0 D) is a predominant problem in Asian
countries, resulting in substantial morbidity. We performed a meta-analysis of four genome …
countries, resulting in substantial morbidity. We performed a meta-analysis of four genome …