Výsledky vyhledávání - Clark, Dinah

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

Prenatal Profile of Cornelia de Lange Syndrome (CdLS): A Review of 53 Pregnancies Autor 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.

Získat plný text Získat plný text Získat plný text

Congenital Heart Disease in Cornelia de Lange Syndrome: Phenotype and Genotype Analysis Autor 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.

Získat plný text Získat plný text Získat plný text

Causes of Death and Autopsy Findings in a Large Study Cohort of Individuals with Cornelia de Lange Syndrome and Review of the Literature Autor 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.

Získat plný text Získat plný text Získat plný text

Homozygosity for the V37I GJB2 Mutation in Fifteen Probands with Mild to Moderate Sensorineural Hearing Impairment: Further Confirmation of Pathogenicity and Haplotype Analysis in... Autor 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.

Získat plný text Získat plný text Získat plný text

SMC1A Expression and Mechanism of Pathogenicity in Probands with X-linked Cornelia de Lange Syndrome Autor 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.

Získat plný text Získat plný text Získat plný text

Transcriptional Dysregulation in NIPBL and Cohesin Mutant Human Cells Autor 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.

Získat plný text Získat plný text Získat plný text

Clinical Report: Germline Mosaicism in Cornelia de Lange Syndrome Autor 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.

Získat plný text Získat plný text Získat plný text

Genome-wide SNP Genotyping Identifies the Stereocilin (STRC) Gene as a Major Contributor to Pediatric Bilateral Sensorineural Hearing Impairment Autor 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

Získat plný text Získat plný text Získat plný text

Genome-wide DNA methylation analysis in cohesin mutant human cell lines Autor 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.

Získat plný text Získat plný text Získat plný text

SNP array mapping of 20p deletions: Genotypes, Phenotypes and Copy Number Variation Autor 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.

Získat plný text Získat plný text Získat plný text

PECONPI: A Novel Software for Uncovering Pathogenic Copy Number Variations in Non-Syndromic Sensorineural Hearing Loss and Other Genetically Heterogeneous Disorders Autor 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

Získat plný text Získat plný text Získat plný text

Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction Autor 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

Získat plný text Získat plný text Získat plný text

Isolated NIPBL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction Autor 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

Získat plný text Získat plný text

Germline Gain-of-Function Mutations in AFF4 Cause a Developmental Syndrome Functionally Linking the Super Elongation Complex and Cohesin Autor 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.

Získat plný text Získat plný text Získat plný text