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Translation and validation of the Chinese version of the MD Anderson symptom inventory for measuring perioperative symptom burden in patients with gynecologic cancer ...
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Translation and validation of the Chinese version of the MD Anderson symptom inventory for measuring perioperative symptom burden in patients with gynecologic cancer ...
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General Facial Representation Learning in a Visual-Linguistic Manner ...
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Receptive and Expressive Vocabulary Skills and Their Correlates in Mandarin-Speaking Infants with Unrepaired Cleft Lip and/or Palate
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In: Int J Environ Res Public Health (2020)
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Correlation between clinical parameters of crown and gingival morphology of anterior teeth and periodontal biotypes
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Dynamic methylome of internal mRNA N(7)-methylguanosine and its regulatory role in translation
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In: Cell Res (2019)
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A DAF-3 co-Smad molecule functions in Haemonchus contortus development
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Differences in Cardiorespiratory Fitness between Chinese and Japanese Children and Adolescents
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Online comics for the teaching and learning of Chinese language in the Australian context
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Triphenyl phosphite as the phosphorus source for the scalable and cost-effective production of transition metal phosphides
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Beyond the traditional simulation design for evaluating type 1 error control: From the “theoretical” null to “empirical” null
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Segmental and tonal errors in L2 Mandarin speech produced by Australian English learners
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THE ROLE OF READING COMPREHENSION IN LARGE-SCALE SUBJECT-MATTER ASSESSMENTS
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Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.
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Ching, Michael SL; Shen, Yiping; Tan, Wen-Hann; Jeste, Shafali S; Morrow, Eric M; Chen, Xiaoli; Mukaddes, Nahit M; Yoo, Seung-Yun; Hanson, Ellen; Hundley, Rachel; Austin, Christina; Becker, Ronald E; Berry, Gerard T; Driscoll, Katherine; Engle, Elizabeth C; Friedman, Sandra; Gusella, James F; Hisama, Fuki M; Irons, Mira B; Lafiosca, Tina; LeClair, Elaine; Miller, David T; Neessen, Michael; Picker, Jonathan D; Rappaport, Leonard; Rooney, Cynthia M; Sarco, Dean P; Stoler, Joan M; Walsh, Christopher A; Wolff, Robert R; Zhang, Ting; Nasir, Ramzi H; Wu, Bai-Lin; Children's Hospital Boston Genotype Phenotype Study Group
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In: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, vol 153B, iss 4 (2010)
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Abstract:
Research has implicated mutations in the gene for neurexin-1 (NRXN1) in a variety of conditions including autism, schizophrenia, and nicotine dependence. To our knowledge, there have been no published reports describing the breadth of the phenotype associated with mutations in NRXN1. We present a medical record review of subjects with deletions involving exonic sequences of NRXN1. We ascertained cases from 3,540 individuals referred clinically for comparative genomic hybridization testing from March 2007 to January 2009. Twelve subjects were identified with exonic deletions. The phenotype of individuals with NRXN1 deletion is variable and includes autism spectrum disorders, mental retardation, language delays, and hypotonia. There was a statistically significant increase in NRXN1 deletion in our clinical sample compared to control populations described in the literature (P = 8.9 x 10(-7)). Three additional subjects with NRXN1 deletions and autism were identified through the Homozygosity Mapping Collaborative for Autism, and this deletion segregated with the phenotype. Our study indicates that deletions of NRXN1 predispose to a wide spectrum of developmental disorders.
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Keyword:
array CGH; Autistic Disorder; Child; Child Development Disorders; Children's Hospital Boston Genotype Phenotype Study Group; Clinical Sciences; CNV; Comparative Genomic Hybridization; Developmental Disabilities; developmental disorders; Female; Genetics; Humans; Intellectual Disability; Language Development Disorders; Male; Mutation; Neurosciences; NRXN1; NRXN1 exonic deletions; Pervasive; Phenotype; Schizophrenia; Sequence Deletion
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URL: https://escholarship.org/uc/item/6zj2639n
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Frequency overlap between electric and acoustic stimulation and speech-perception benefit in patients with combined electric and acoustic stimulation
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Situational Context and Marked Code-Switching
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In: Cross-Cultural Communication; Vol 5, No 1 (2009): Cross-Cultural Communication; 62-67 ; 1923-6700 ; 1712-8358 (2010)
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The benefits of acoustic input to combined electric and contralateral acoustic hearing
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