检索结果 - Wu, Bai-Lin

Avoiding Pitfalls in Molecular Genetic Testing: Case Studies of High-Resolution Array Comparative Genomic Hybridization Testing in the Definitive Diagnosis of Mowat-Wilson Syndrome 由 Kluk, Michael Joseph, An, Yu, James, Philip, Coulter, David, Harris, David, Wu, Bai-Lin, Shen, Yiping

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Autistic Children Exhibit Decreased Levels of Essential Fatty Acids in Red Blood Cells 由 Brigandi, Sarah A., Shao, Hong, Qian, Steven Y., Shen, Yiping, Wu, Bai-Lin, Kang, Jing X.

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Intracytoplasmic Sperm Injection May Increase the Risk of Imprinting Defects 由 Cox, Gerald F., Bürger, Joachim, Lip, Va, Mau, Ulrike A., Sperling, Karl, Wu, Bai-Lin, Horsthemke, Bernhard

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Extracellular Cl(−) regulates human SO(4)(2−)/anion exchanger SLC26A1 by altering pH-sensitivity of anion transport 由 Wu, Meng, Heneghan, John F., Vandorpe, David H., Escobar, Laura I., Wu, Bai-Lin, Alper, Seth L.

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GABA Signaling Pathway-associated Gene PLCL1 Rare Variants May be Associated with Autism Spectrum Disorders 由 Zheng, Fengyun, Liu, Guoyuan, Dang, Ting, Chen, Qiaowen, An, Yu, Wu, Meng, Kong, Xiangxuan, Qiu, Zilong, Wu, Bai-Lin

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Audiologic Phenotype and Progression in GJB2 (Connexin 26) Hearing Loss 由 Kenna, Margaret A., Feldman, Henry A., Neault, Marilyn W., Frangulov, Anna, Wu, Bai-Lin, Fligor, Brian, Rehm, Heidi L.

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Molecular Analysis of a Deletion Hotspot in the NRXN1 Region Reveals the Involvement of Short Inverted Repeats in Deletion CNVs 由 Chen, Xiaoli, Shen, Yiping, Zhang, Feng, Chiang, Colby, Pillalamarri, Vamsee, Blumenthal, Ian, Talkowski, Michael, Wu, Bai-Lin, Gusella, James F.

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Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes 由 Bennett, Richard R, Schneider, Hal E, Estrella, Elicia, Burgess, Stephanie, Cheng, Andrew S, Barrett, Caitlin, Lip, Va, Lai, Poh San, Shen, Yiping, Wu, Bai-Lin, Darras, Basil T, Beggs, Alan H, Kunkel, Louis M

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High Proportion of 22q13 Deletions and SHANK3 Mutations in Chinese Patients with Intellectual Disability 由 Gong, Xiaohong, Jiang, Yu-wu, Zhang, Xin, An, Yu, Zhang, Jun, Wu, Ye, Wang, Jingmin, Sun, Yangfei, Liu, Yanyan, Gao, Xuewu, Shen, Yiping, Wu, Xiru, Qiu, Zilong, Jin, Li, Wu, Bai-Lin, Wang, Hongyan

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Detection of Copy Number Variants Reveals Association of Cilia Genes with Neural Tube Defects 由 Chen, Xiaoli, Shen, Yiping, Gao, Yonghui, Zhao, Huizhi, Sheng, Xiaoming, Zou, Jizhen, Lip, Va, Xie, Hua, Guo, Jin, Shao, Hong, Bao, Yihua, Shen, Jianliang, Niu, Bo, Gusella, James F., Wu, Bai-Lin, Zhang, Ting

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Congenital chloride-losing diarrhea in a Mexican child with the novel homozygous SLC26A3 mutation G393W 由 Reimold, Fabian R., Balasubramanian, Savithri, Doroquez, David B., Shmukler, Boris E., Zsengeller, Zsuzsanna K., Saslowsky, David, Thiagarajah, Jay R., Stillman, Isaac E., Lencer, Wayne I., Wu, Bai-Lin, Villalpando-Carrion, Salvador, Alper, Seth L.

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Genome-Wide Oligonucleotide Array Comparative Genomic Hybridization for Etiological Diagnosis of Mental Retardation: A Multicenter Experience of 1499 Clinical Cases 由 Xiang, Bixia, Zhu, Hongbo, Shen, Yiping, Miller, David T., Lu, Kangmo, Hu, Xiaofeng, Andersson, Hans C., Narumanchi, Tarachandra M., Wang, Yueying, Martinez, Jose E., Wu, Bai-Lin, Li, Peining, Li, Marilyn M., Chen, Tian-Jian, Fan, Yao-Shan

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Genome-wide Association of Copy-Number Variation Reveals an Association between Short Stature and the Presence of Low-Frequency Genomic Deletions 由 Dauber, Andrew, Yu, Yongguo, Turchin, Michael C., Chiang, Charleston W., Meng, Yan A., Demerath, Ellen W., Patel, Sanjay R., Rich, Stephen S., Rotter, Jerome I., Schreiner, Pamela J., Wilson, James G., Shen, Yiping, Wu, Bai-Lin, Hirschhorn, Joel N.

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Rare deleterious PARD3 variants in the aPKC-binding region are implicated in the pathogenesis of human cranial neural tube defects via disrupting apical tight junction formation 由 Chen, Xiaoli, An, Yu, Gao, Yonghui, Guo, Liu, Rui, Lei, Xie, Hua, Sun, Mei, Hung, Siv Lam, Sheng, Xiaoming, Zou, Jizhen, Bao, Yihua, Guan, Hongyan, Niu, Bo, Li, Zandong, Finnell, Richard H., Gusella, James F., Wu, Bai-Lin, Zhang, Ting

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Homozygous PLCB1 Deletion Associated with Malignant Migrating Partial Seizures in Infancy 由 Poduri, Annapurna, Chopra, Sameer S., Neilan, Edward G., Elhosary, P. Christina, Kurian, Manju A., Meyer, Esther, Barry, Brenda J., Khwaja, Omar S., Salih, Mustafa A. M., Sci, Dr Med, Stödberg, Tommy, Scheffer, Ingrid E., Maher, Eamonn R., Sahin, Mustafa, Wu, Bai-Lin, Med, M, Berry, Gerard T., Walsh, Christopher A., Picker, Jonathan, Kothare, Sanjeev V.

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Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders 由 Miller, David T., Shen, Yiping, Weiss, Lauren A., Korn, Joshua, Anselm, Irina, Bridgemohan, Carolyn, Cox, Gerald F., Dickinson, Hope, Gentile, Jennifer, Harris, David J., Hegde, Vijay, Hundley, Rachel, Khwaja, Omar, Kothare, Sanjeev, Luedke, Christina, Nasir, Ramzi, Poduri, Annapurna, Prasad, Kiran, Raffalli, Peter, Reinhard, Ann, Smith, Sharon E., Sobeih, Magdi M., Soul, Janet S., Stoler, Joan, Takeoka, Masanori, Tan, Wen-Hann, Thakuria, Joseph, Wolff, Robert, Yusupov, Roman, Gusella, James F., Daly, Mark J., Wu, Bai-Lin

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GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment 由 Dai, Pu, Yu, Fei, Han, Bing, Liu, Xuezhong, Wang, Guojian, Li, Qi, Yuan, Yongyi, Liu, Xin, Huang, Deliang, Kang, Dongyang, Zhang, Xin, Yuan, Huijun, Yao, Kun, Hao, Jinsheng, He, Jia, He, Yong, Wang, Youqin, Ye, Qing, Yu, Youjun, Lin, Hongyan, Liu, Lijia, Deng, Wei, Zhu, Xiuhui, You, Yiwen, Cui, Jinghong, Hou, Nongsheng, Xu, Xuehai, Zhang, Jin, Tang, Liang, Song, Rendong, Lin, Yongjun, Sun, Shuanzhu, Zhang, Ruining, Wu, Hao, Ma, Yuebing, Zhu, Shanxiang, Wu, Bai-lin, Han, Dongyi, Wong, Lee-Jun C

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Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries 由 Talkowski, Michael E., Rosenfeld, Jill A., Blumenthal, Ian, Pillalamarri, Vamsee, Chiang, Colby, Heilbut, Adrian, Ernst, Carl, Hanscom, Carrie, Rossin, Elizabeth, Lindgren, Amelia, Pereira, Shahrin, Ruderfer, Douglas, Kirby, Andrew, Ripke, Stephan, Harris, David, Lee, Ji-Hyun, Ha, Kyungsoo, Kim, Hyung-Goo, Solomon, Benjamin D., Gropman, Andrea L., Lucente, Diane, Sims, Katherine, Ohsumi, Toshiro K., Borowsky, Mark L., Loranger, Stephanie, Quade, Bradley, Lage, Kasper, Miles, Judith, Wu, Bai-Lin, Shen, Yiping, Neale, Benjamin, Shaffer, Lisa G., Daly, Mark J., Morton, Cynthia C., Gusella, James F.

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Somatic Mutations in Cerebral Cortical Malformations 由 Jamuar, Saumya S., Lam, Anh-Thu N., Kircher, Martin, D'Gama, Alissa M., Wang, Jian, Barry, Brenda J., Zhang, Xiaochang, Hill, Robert Sean, Partlow, Jennifer N., Rozzo, Aldo, Servattalab, Sarah, Mehta, Bhaven K., Topcu, Meral, Amrom, Dina, Andermann, Eva, Dan, Bernard, Parrini, Elena, Guerrini, Renzo, Scheffer, Ingrid E., Berkovic, Samuel F., Leventer, Richard J., Shen, Yiping, Wu, Bai Lin, Barkovich, A. James, Sahin, Mustafa, Chang, Bernard S., Bamshad, Michael, Nickerson, Deborah A., Shendure, Jay, Poduri, Annapurna, Yu, Timothy W., Walsh, Christopher A.

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Deletions of NRXN1 (Neurexin-1) Predispose to a Wide Spectrum of Developmental Disorders 由 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

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