المؤلفون: Koczkowska, Magdalena, Callens, Tom, Gomes, Alicia, Sharp, Angela, Chen, Yunjia, Hicks, Alesha D, Aylsworth, Arthur S, Azizi, Amedeo A, Basel, Donald G, Bellus, Gary, Bird, Lynne M, Blazo, Maria A, Burke, Leah W, Cannon, Ashley, Collins, Felicity, DeFilippo, Colette, Denayer, Ellen, Digilio, Maria C, Dills, Shelley K, Dosa, Laura, Greenwood, Robert S, Griffis, Cristin, Gupta, Punita, Hachen, Rachel K, Hernández-Chico, Concepción, Janssens, Sandra, Jones, Kristi J, Jordan, Justin T, Kannu, Peter, Korf, Bruce R, Lewis, Andrea M, Listernick, Robert H, Lonardo, Fortunato, Mahoney, Maurice J, Ojeda, Mayra Martinez, McDonald, Marie T, McDougall, Carey, Mendelsohn, Nancy, Miller, David T, Mori, Mari, Oostenbrink, Rianne, Perreault, Sebastién, Pierpont, Mary Ella, Piscopo, Carmelo, Pond, Dinel A, Randolph, Linda M, Rauen, Katherine A, Rednam, Surya, Rutledge, S Lane, Saletti, Veronica, Schaefer, G Bradley, Schorry, Elizabeth K, Scott, Daryl A, Shugar, Andrea, Siqveland, Elizabeth, Starr, Lois J, Syed, Ashraf, Trapane, Pamela L, Ullrich, Nicole J, Wakefield, Emily G, Walsh, Laurence E, Wangler, Michael F, Zackai, Elaine, Claes, Kathleen BM, Wimmer, Katharina, van Minkelen, Rick, De Luca, Alessandro, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine M

المصدر: Genetics in Medicine. 21(4)

مصطلحات موضوعية: Biological Sciences, Genetics, Pediatric, Rare Diseases, Neurofibromatosis, Clinical Research, Neurosciences, Brain Disorders, Adolescent, Adult, Child, Child, Preschool, Female, Genetic Association Studies, Genetic Predisposition to Disease, Heterozygote, Humans, Infant, Learning Disabilities, Male, Mutation, Missense, Neurofibroma, Plexiform, Neurofibromatosis 1, Neurofibromin 1, Sequence Deletion, Young Adult, NF1, p.Met992del, genotype-phenotype correlation, neurofibroma, learning difficulties, genotype–phenotype correlation, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/8m17h094Test

المؤلفون: Silverstein, Max L., Burke, Leah W., Laub, Donald R.

المصدر: Plastic and Reconstructive Surgery - Global Open ; volume 9, issue 2, page e3358 ; ISSN 2169-7574

الإتاحة: https://doi.org/10.1097/gox.0000000000003358Test

المؤلفون: Haspel, Richard L., Genzen, Jonathan R., Wagner, Jay, Fong, Karen, Wilcox, Rebecca, Adem, Patricia V., Anderson, Hana, Atkinson, James B., Burke, Leah W., Joseph, Loren, LeGallo, Robin D., Lew, Madelyn, Lockwood, Christina M., Naeem, Rizwan, Rizvi, Hasan, Ortega, Julian Sanz, Shane-Carson, Kate, Sobel, Mark E., Suarez, Eric, Tafe, Laura J., Wang, Jason, Wilcox, Rebecca L.

المصدر: Genetics in Medicine ; volume 23, issue 6, page 1151-1157 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1038/s41436-021-01100-5Test
https://www.nature.com/articles/s41436-021-01100-5.pdfTest
https://www.nature.com/articles/s41436-021-01100-5Test
https://api.elsevier.com/content/article/PII:S1098360021052138?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021052138?httpAccept=text/plainTest

المؤلفون: Koczkowska, Magdalena, Callens, Tom, Gomes, Alicia, Sharp, Angela, Chen, Yunjia, Hicks, Alesha D., Aylsworth, Arthur S., Azizi, Amedeo A., Basel, Donald G., Bellus, Gary, Bird, Lynne M., Blazo, Maria A., Burke, Leah W., Cannon, Ashley, Collins, Felicity, DeFilippo, Colette, Denayer, Ellen, Digilio, Maria C., Dills, Shelley K., Dosa, Laura, Greenwood, Robert S., Griffis, Cristin, Gupta, Punita, Hachen, Rachel K., Hernández-Chico, Concepción, Janssens, Sandra, Jones, Kristi J., Jordan, Justin T., Kannu, Peter, Korf, Bruce R., Lewis, Andrea M., Listernick, Robert H., Lonardo, Fortunato, Mahoney, Maurice J., Ojeda, Mayra Martinez, McDonald, Marie T., McDougall, Carey, Mendelsohn, Nancy, Miller, David T., Mori, Mari, Oostenbrink, Rianne, Perreault, Sebastién, Pierpont, Mary Ella, Piscopo, Carmelo, Pond, Dinel A., Randolph, Linda M., Rauen, Katherine A., Rednam, Surya, Rutledge, S. Lane, Saletti, Veronica, Schaefer, G. Bradley, Schorry, Elizabeth K., Scott, Daryl A., Shugar, Andrea, Siqveland, Elizabeth, Starr, Lois J., Syed, Ashraf, Trapane, Pamela L., Ullrich, Nicole J., Wakefield, Emily G., Walsh, Laurence E., Wangler, Michael F., Zackai, Elaine, Claes, Kathleen B.M., Wimmer, Katharina, van Minkelen, Rick, De Luca, Alessandro, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine M.

المساهمون: Neurology, School of Medicine

المصدر: Publisher

مصطلحات موضوعية: genotype–phenotype correlation, NF1, p.Met992del, neurofibroma, learning difficulties

وصف الملف: application/pdf

العلاقة: Genetics in Medicine; Koczkowska, M., Callens, T., Gomes, A., Sharp, A., Chen, Y., Hicks, A. D., Aylsworth, A. S., Azizi, A. A., Basel, D. G., Bellus, G., Bird, L. M., Blazo, M. A., Burke, L. W., Cannon, A., Collins, F., DeFilippo, C., Denayer, E., Digilio, M. C., Dills, S. K., … Messiaen, L. M. (2019). Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation. Genetics in Medicine, 21(3), 764–765. https://doi.org/10.1038/s41436-018-0326-8Test; https://hdl.handle.net/1805/27404Test

الإتاحة: https://doi.org/10.1038/s41436-018-0326-8Test
https://hdl.handle.net/1805/27404Test

المؤلفون: Koczkowska, Magdalena, Callens, Tom, Gomes, Alicia, Sharp, Angela, Chen, Yunjia, Hicks, Alesha D., Aylsworth, Arthur S., Azizi, Amedeo A., Basel, Donald G., Bellus, Gary, Bird, Lynne M., Blazo, Maria A., Burke, Leah W., Cannon, Ashley, Collins, Felicity, DeFilippo, Colette, Denayer, Ellen, Digilio, Maria C., Dills, Shelley K., Dosa, Laura, Greenwood, Robert S., Griffis, Cristin, Gupta, Punita, Hachen, Rachel K., Hernández-Chico, Concepción, Janssens, Sandra, Jones, Kristi J., Jordan, Justin T., Kannu, Peter, Korf, Bruce R., Lewis, Andrea M., Listernick, Robert H., Lonardo, Fortunato, Mahoney, Maurice J., Ojeda, Mayra Martinez, McDonald, Marie T., McDougall, Carey, Mendelsohn, Nancy, Miller, David T., Mori, Mari, Oostenbrink, Rianne, Perreault, Sebastién, Pierpont, Mary Ella, Piscopo, Carmelo, Pond, Dinel A., Randolph, Linda M., Rauen, Katherine A., Rednam, Surya, Rutledge, S. Lane, Saletti, Veronica, Schaefer, G. Bradley, Schorry, Elizabeth K., Scott, Daryl A., Shugar, Andrea, Siqveland, Elizabeth, Starr, Lois J., Syed, Ashraf, Trapane, Pamela L., Ullrich, Nicole J., Wakefield, Emily G., Walsh, Laurence E., Wangler, Michael F., Zackai, Elaine, Claes, Kathleen, Wimmer, Katharina, van Minkelen, Rick, De Luca, Alessandro, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine M.

مصطلحات موضوعية: Genetics(clinical)

العلاقة: https://www.openaccessrepository.it/record/26547Test

الإتاحة: https://doi.org/10.1038/s41436-018-0326-8Test
https://www.openaccessrepository.it/record/26547Test

المؤلفون: Tinkle, Brad T., Lacro, Ronald V., Burke, Leah W.

المصدر: Pediatrics; Apr2023, Vol. 151 Issue 4, p1-18, 18p

المؤلفون: Burke, Leah W.

المصدر: Congenital Anomalies of the Upper Extremity ; page 41-52 ; ISBN 9783030641580 9783030641597

الإتاحة: https://doi.org/10.1007/978-3-030-64159-7_3Test

المؤلفون: Cohen, Jennifer L., Schrier Vergano, Samantha A., Mazzola, Sarah, Strong, Alanna, Keena, Beth, McDougall, Carey, Ritter, Alyssa, Li, Dong, Bedoukian, Emma C., Burke, Leah W., Hoffman, Amber, Zurcher, Victoria, Krantz, Ian D., Izumi, Kosuke, Bhoj, Elizabeth, Zackai, Elaine H., Deardorff, Matthew A.

المصدر: American Journal of Medical Genetics Part A ; volume 182, issue 12, page 2926-2938 ; ISSN 1552-4825 1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.61883Test

المؤلفون: Wilcox, Rebecca L., Adem, Patricia V., Afshinnekoo, Ebrahim, Atkinson, James B., Burke, Leah W., Cheung, Hoiwan, Dasgupta, Shoumita, DeLaGarza, Julia, Joseph, Loren, LeGallo, Robin, Lew, Madelyn, Lockwood, Christina M., Haspel, Richard L.

المصدر: NYMC Faculty Publications

مصطلحات موضوعية: NCI, active learning, curricula, genetics, genomics, interprofessional, medical education, precision medicine, Medicine and Health Sciences

وصف الملف: application/pdf

العلاقة: https://touroscholar.touro.edu/nymc_fac_pubs/1565Test; https://touroscholar.touro.edu/context/nymc_fac_pubs/article/2448/viewcontent/Adem_Patricia_Undergraduate_AM.pdfTest

الإتاحة: https://doi.org/10.2217/pme-2017-0077Test
https://touroscholar.touro.edu/nymc_fac_pubs/1565Test
https://touroscholar.touro.edu/context/nymc_fac_pubs/article/2448/viewcontent/Adem_Patricia_Undergraduate_AM.pdfTest

المؤلفون: Burke, Leah W.

المصدر: Human Malformations and Related Anomalies ; page 853-870

الإتاحة: https://doi.org/10.1093/med/9780199386031.003.0032Test