نتائج البحث - "Starr, Lois J."

1

دورية أكاديمية

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

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)

وصف الملف: application/pdf

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

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2

دورية أكاديمية

Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome

المساهمون: U.S. Department of Health & Human Services | NIH | National Institute of General Medical Sciences, U.S. Department of Health & Human Services | NIH | Office of Extramural Research, National Institutes of Health

المصدر: European Journal of Human Genetics ; volume 31, issue 7, page 824-833 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/s41431-023-01368-yTest
https://www.nature.com/articles/s41431-023-01368-y.pdfTest
https://www.nature.com/articles/s41431-023-01368-yTest

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3

دورية أكاديمية

CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum

مصطلحات موضوعية: Arthrogryposis, Developmental delay, Genetics, Genomics, Intellectual disability, Neurodevelopmental disorder, Rare diseases, Sciences du Vivant [q-bio]/Médecine humaine et pathologie

العلاقة: 0009-9163 (print) 1399-0004 (online); https://oskar-bordeaux.fr/handle/20.500.12278/112875Test

الإتاحة: https://doi.org/20.500.12278/112875Test
https://doi.org/10.1111/cge.14022Test
https://oskar-bordeaux.fr/handle/20.500.12278/112875Test
https://hdl.handle.net/20.500.12278/112875Test

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4

دورية أكاديمية

QTC IN PATIENTS WITH TURNER SYNDROME

المؤلفون: Robinson, Jeffrey A., Harrahill, Noah J., Starr, Lois J., Yetman, Angela

المصدر: Journal of the American College of Cardiology ; volume 75, issue 11, page 626 ; ISSN 0735-1097

مصطلحات موضوعية: Cardiology and Cardiovascular Medicine

الإتاحة: https://doi.org/10.1016/s0735-1097Test(20)31253-5
https://api.elsevier.com/content/article/PII:S0735109720312535?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0735109720312535?httpAccept=text/plainTest

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5

دورية أكاديمية

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

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

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