检索结果 - Jackson, Laird

Genetic counseling 由 Jackson, Laird G.

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Clinical genetics handbook 由 Jackson, Laird G.

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Prenatal diagnosis of fetal aneuploidies: post-genomic developments 由 Hahn, Sinuhe, Jackson, Laird G, Zimmermann, Bernhard G

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Phenotypic Information in Genomic Variant Databases Enhances Clinical Care and Research: The ISCA Consortium Experience 由 Riggs, Erin Rooney, Jackson, Laird, Miller, David T., Van Vooren, Steven

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Women’s experiences receiving abnormal prenatal chromosomal microarray testing results 由 Bernhardt, Barbara A., Soucier, Danielle, Hanson, Karen, Savage, Melissa S., Jackson, Laird, Wapner, Ronald J.

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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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Chromosome Rearrangements in Cornelia de Lange Syndrome (CdLS): Report of a der(3)t(3;12)(p25.3;p13.3) in Two Half Sibs With Features of CdLS and Review of Reported CdLS Cases With... 由 DeScipio, Cheryl, Kaur, Maninder, Yaeger, Dinah, Innis, Jeffrey W., Spinner, Nancy B., Jackson, Laird G., Krantz, Ian D.

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Precocious Sister Chromatid Separation (PSCS) in Cornelia de Lange Syndrome 由 Kaur, Maninder, DeScipio, Cheryl, McCallum, Jennifer, Yaeger, Dinah, Devoto, Marcella, Jackson, Laird G., Spinner, Nancy B., Krantz, Ian D.

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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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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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NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype–phenotype correlation 由 Pehlivan, Davut, Hullings, Melanie, Carvalho, Claudia M.B., Gonzaga-Jauregui, Claudia G., Loy, Elizabeth, Jackson, Laird G., Krantz, Ian D., Deardorff, Matthew A., Lupski, James R.

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Exclusion of Linkage to the CDL1 Gene Region on Chromosome 3q26.3 in Some Familial Cases of Cornelia de Lange Syndrome 由 Krantz, Ian D., Tonkin, Emma, Smith, Melanie, Devoto, Marcella, Bottani, Armand, Simpson, Claire, Hofreiter, Mary, Abraham, Vinod, Jukofsky, Lori, Conti, Brian P., Strachan, Tom, Jackson, Laird

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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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NIPBL Mutational Analysis in 120 Individuals with Cornelia de Lange Syndrome and Evaluation of Genotype-Phenotype Correlations 由 Gillis, Lynette A., McCallum, Jennifer, Kaur, Maninder, DeScipio, Cheryl, Yaeger, Dinah, Mariani, Allison, Kline, Antonie D., Li, Hui-hua, Devoto, Marcella, Jackson, Laird G., 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 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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Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation 由 Deardorff, Matthew A., Kaur, Maninder, Yaeger, Dinah, Rampuria, Abhinav, Korolev, Sergey, Pie, Juan, Gil-Rodríguez, Concepcion, Arnedo, María, Loeys, Bart, Kline, Antonie D., Wilson, Meredith, Lillquist, Kaj, Siu, Victoria, Ramos, Feliciano J., Musio, Antonio, Jackson, Laird S., Dorsett, Dale, Krantz, Ian D.

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