檢索結果 - Clark, Dinah

Investigation of Autistic Features Among Individuals With Mild to Moderate Cornelia de Lange Syndrome 由 Nakanishi, Mariko, Deardorff, Matthew A., Clark, Dinah, Levy, Susan E., Krantz, Ian, Pipan, Mary

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The Incidence of Thrombocytopenia in Children with Cornelia de Lange Syndrome 由 Lambert, Michele P., Jackson, Laird G., Clark, Dinah, Kaur, Mani, Krantz, Ian D., Deardorff, Matthew A.

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Facial Diagnosis of Mild and Variant CdLS: Insights From a Dysmorphologist Survey 由 Rohatgi, Sarika, Clark, Dinah, Kline, Antonie D., Jackson, Laird G., Pie, Juan, Siu, Victoria, Ramos, Feliciano J., Krantz, Ian D., Deardorff, Matthew A.

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Preimplantation Genetic Testing for Kidney Disease-Related Genes: A Laboratory's Experience 由 Chaperon, Jessica L., Wemmer, Nina M., McKanna, Trudy A., Clark, Dinah M., Westemeyer, Maggie A., Gauthier, Philippe, Bai, Yan, Coleman, Jessica M.

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Vignette-Based Reflections to Inform Genetic Testing Policies in Living Kidney Donors 由 Singh, Gurmukteshwar, Gohh, Reginald, Clark, Dinah, Kalra, Kartik, Das, Manoj, Bradauskaite, Gitana, Bleyer, Anthony J., Tanriover, Bekir, Chang, Alex R., Anand, Prince M.

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Two Siblings with Alternate Unbalanced Recombinants Derived from a Large Cryptic Maternal Pericentric Inversion of Chromosome 20 由 DeScipio, Cheryl, Morrissette, Jennifer J.D., Conlin, Laura K., Clark, Dinah, Kaur, Maninder, Coplan, James, Riethman, Harold, Spinner, Nancy B., Krantz, Ian D.

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Prenatal Profile of Cornelia de Lange Syndrome (CdLS): A Review of 53 Pregnancies 由 Clark, Dinah M., Sherer, Ilana, Deardorff, Matthew A., Byrne, Janice L.B., Loomes, Kathleen M., Nowaczyk, Malgorzata J.M., Jackson, Laird G., Krantz, Ian D.

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Congenital Heart Disease in Cornelia de Lange Syndrome: Phenotype and Genotype Analysis 由 Chatfield, Kathryn C., Schrier, Samantha A., Li, Jennifer, Clark, Dinah, Kaur, Maninder, Kline, Antonie D., Deardorff, Matthew A., Jackson, Laird S., Goldmuntz, Elizabeth, Krantz, Ian D.

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Causes of Death and Autopsy Findings in a Large Study Cohort of Individuals with Cornelia de Lange Syndrome and Review of the Literature 由 Schrier, Samantha A., Sherer, Ilana, Deardorff, Matthew A., Clark, Dinah, Audette, Lynn, Gillis, Lynette, Kline, Antonie D., Ernst, Linda, Loomes, Kathy, Krantz, Ian D., Jackson, Laird G.

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Homozygosity for the V37I GJB2 Mutation in Fifteen Probands with Mild to Moderate Sensorineural Hearing Impairment: Further Confirmation of Pathogenicity and Haplotype Analysis in... 由 Gallant, Emily, Francey, Lauren, Tsai, Ellen A., Berman, Micah, Zhao, Yaru, Fetting, Heather, Kaur, Maninder, Deardorff, Matthew A., Wilkens, Alisha, Clark, Dinah, Hakonarson, Hakon, Rehm, Heidi, Krantz, Ian D.

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SMC1A Expression and Mechanism of Pathogenicity in Probands with X-linked Cornelia de Lange Syndrome 由 Liu, Jinglan, Feldman, Rachel, Zhang, Zhe, Deardorff, Matthew A., Haverfield, Eden V., Kaur, Maninder, Li, Jennifer R., Clark, Dinah, Kline, Antonie D., Waggoner, Darrel J., Das, Soma, Jackson, Laird G., Krantz, Ian D.

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Transcriptional Dysregulation in NIPBL and Cohesin Mutant Human Cells 由 Liu, Jinglan, Zhang, Zhe, Bando, Masashige, Itoh, Takehiko, Deardorff, Matthew A., Clark, Dinah, Kaur, Maninder, Tandy, Stephany, Kondoh, Tatsuro, Rappaport, Eric, Spinner, Nancy B., Vega, Hugo, Jackson, Laird G., Shirahige, Katsuhiko, Krantz, Ian D.

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Clinical Report: Germline Mosaicism in Cornelia de Lange Syndrome 由 Slavin, Thomas P., Lazebnik, Noam, Clark, Dinah M., Vengoechea, Jaime, Cohen, Leslie, Kaur, Maninder, Konczal, Laura, Crowe, Carol A., Corteville, Jane E., Nowaczyk, Malgorzata J., Byrne, Janice L., Jackson, Laird G., Krantz, Ian D.

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Genome-wide SNP Genotyping Identifies the Stereocilin (STRC) Gene as a Major Contributor to Pediatric Bilateral Sensorineural Hearing Impairment 由 Francey, Lauren J, Conlin, Laura K, Kadesch, Hanna E, Clark, Dinah, Berrodin, Donna, Sun, Yi, Glessner, Joe, Hakonarson, Hakon, Jalas, Chaim, Landau, Chaim, Spinner, Nancy B, Kenna, Margaret, Sagi, Michal, Rehm, Heidi L, Krantz, Ian D

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Genome-wide DNA methylation analysis in cohesin mutant human cell lines 由 Liu, Jinglan, Zhang, Zhe, Bando, Masashige, Itoh, Takehiko, Deardorff, Matthew A., Li, Jennifer R., Clark, Dinah, Kaur, Maninder, Tatsuro, Kondo, Kline, Antonie D., Chang, Celia, Vega, Hugo, Jackson, Laird G., Spinner, Nancy B., Shirahige, Katsuhiko, Krantz, Ian D.

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SNP array mapping of 20p deletions: Genotypes, Phenotypes and Copy Number Variation 由 Kamath, Binita M., Thiel, Brian D., Gai, Xiaowu, Conlin, Laura K., Munoz, Pedro S., Glessner, Joseph, Clark, Dinah, Warthen, Daniel M., Shaikh, Tamim H., Mihci, Ercan, Piccoli, David A., Grant, Struan F.A., Hakonarson, Hakon, Krantz, Ian D., Spinner, Nancy B.

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PECONPI: A Novel Software for Uncovering Pathogenic Copy Number Variations in Non-Syndromic Sensorineural Hearing Loss and Other Genetically Heterogeneous Disorders 由 Tsai, Ellen A, Berman, Micah A, Conlin, Laura K, Rehm, Heidi L, Francey, Lauren J, Deardorff, Matthew A, Holst, Jenelle, Kaur, Maninder, Gallant, Emily, Clark, Dinah M, Glessner, Joseph T, Jensen, Shane T, Grant, Struan FA, Gruber, Peter J, Hakonarson, Hakon, Spinner, Nancy B, Krantz, Ian D

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Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction 由 Braunholz, Diana, Hullings, Melanie, Gil-Rodríguez, María Concepcion, Fincher, Christopher T, Mallozzi, Mark B, Loy, Elizabeth, Albrecht, Melanie, Kaur, Maninder, Limon, Janusz, Rampuria, Abhinav, Clark, Dinah, Kline, Antonie, Dalski, Andreas, Eckhold, Juliane, Tzschach, Andreas, Hennekam, Raoul, Gillessen-Kaesbach, Gabriele, Wierzba, Jolanta, Krantz, Ian D, Deardorff, Matthew A, Kaiser, Frank J

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Isolated NIPBL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction 由 Braunholz, Diana, Hullings, Melanie, Gil-Rodríguez, María Concepcion, Fincher, Christopher T, Mallozzi, Mark B, Loy, Elizabeth, Albrecht, Melanie, Kaur, Maninder, Limon, Janusz, Rampuria, Abhinav, Clark, Dinah, Kline, Antonie, Dalski, Andreas, Eckhold, Juliane, Tzschach, Andreas, Hennekam, Raoul, Gillessen-Kaesbach, Gabriele, Wierzba, Jolanta, Krantz, Ian D, Deardorff, Matthew A, Kaiser, Frank J

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Germline Gain-of-Function Mutations in AFF4 Cause a Developmental Syndrome Functionally Linking the Super Elongation Complex and Cohesin 由 Izumi, Kosuke, Nakato, Ryuichiro, Zhang, Zhe, Edmondson, Andrew C., Noon, Sarah, Dulik, Matthew C., Rajagopalan, Ramkakrishnan, Venditti, Charles P., Gripp, Karen, Samanich, Joy, Zackai, Elaine H., Deardorff, Matthew A., Clark, Dinah, Allen, Julian L., Dorsett, Dale, Misulovin, Ziva, Komata, Makiko, Bando, Masashige, Kaur, Maninder, Katou, Yuki, Shirahige, Katsuhiko, Krantz, Ian D.

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