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De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

机译：WDR37中的Novo变体与癫痫，Colobomas，疑难垂，发育延迟，智力障碍和小脑发育性有关

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1. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia [J] . Kanca Oguz, Andrews Jonathan C., Lee Pei-Tseng, The American Journal of Human Genetics . 2019,第2期

机译：WDR37中的Novo变体与癫痫，Colobomas，疑难术，发育延迟，智力障碍和小脑发育性有关
2. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia (vol 105, pg 413, 2019) [J] . Kanca Oguz, Andrews Jonathan C., Lee Pei-Tseng, The American Journal of Human Genetics . 2019,第3期

机译：WDR37中的Novo变体与癫痫，Colobomas，疑难垂，发育延迟，智力发育性和小脑发育性有关（Vol 105，PG 413,2019）
3. De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy [J] . Genetics in medicine . 2020,第4期

机译：de novo cltc变体与来自轻度至严重智力残疾，微头畸形，语料库胼callosum和癫痫发作的变量表型相关联
4. AN INVESTIGATION OF BIOMARKERS IN THE SERUM OF DEVELOPMENTAL DISORDERS USING AN INTELLECTUAL DISABILITY MODEL MOUSE, WHICH SHOW IMPAIRED SOCIAL BEHAVIOURS [C] . Keiji Gamoh, Mai Nishimura, Takumi Akashi, International Mass Spectrometry Conference . 2018

机译：利用智力残疾模型小鼠对发育障碍血清生物标志物的调查，这表明了社会行为受损
5. Characterization of genomic structural variations in Slovenian children with unexplained intellectual disabilities or developmental delay, congenital anomalies, and autistic spectrum disorders. [D] . Krgovic, Danijela. 2015

机译：具有无法解释的智力障碍或发育迟缓，先天性异常和自闭症谱系障碍的斯洛文尼亚儿童的基因组结构变异的特征。
6. De Novo Variants in WDR37 Are Associated with Epilepsy Colobomas Dysmorphism Developmental Delay Intellectual Disability and Cerebellar Hypoplasia [O] . Oguz Kanca, Jonathan C. Andrews, Pei-Tseng Lee, 2019

机译：WDR37中的De Novo变体与癫痫结肠癌畸形发育迟缓智力障碍和小脑发育不全相关
7. De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features. [O] . Tanaka, AJ, Cho, MT, Retterer, K, 2016

机译：CHamp1中的新生致病变体与全球发育迟缓，智力残疾和畸形面部特征相关。

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

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