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: Wojcik, Monica, Bresnahan, Mairead, Rosario, Maya del, Ojeda, Mayra Martinez, Kritzer, Amy, Fraiman, Yarden

المصدر: Genetics in Medicine ; volume 24, issue 3, page S386 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2022.01.616Test
https://api.elsevier.com/content/article/PII:S1098360022006347?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360022006347?httpAccept=text/plainTest

المؤلفون: Koczkowska, Magdalena, Callens, Tom, Chen, Yunjia, Gomes, Alicia, Hicks, Alesha D., Sharp, Angela, Johns, Eric, Uhas, Kim Armfield, Armstrong, Linlea, Bosanko, Katherine Armstrong, Babovic-Vuksanovic, Dusica, Baker, Laura, Basel, Donald G., Bengala, Mario, Bennett, James T., Chambers, Chelsea, Clarkson, Lola K., Clementi, Maurizio, Cortes, Fanny M., Cunningham, Mitch, D'Agostino, M. Daniela, Delatycki, Martin B., Digilio, Maria C., Dosa, Laura, Esposito, Silvia, Fox, Stephanie, Freckmann, Mary-Louise, Fauth, Christine, Giugliano, Teresa, Giustini, Sandra, Goetsch, Allison, Goldberg, Yael, Greenwood, Robert S., Griffis, Cristin, Gripp, Karen W., Gupta, Punita, Haan, Eric, Hachen, Rachel K., Haygarth, Tamara L., Hernandez-Chico, Concepcion, Hodge, Katelyn, Hopkin, Robert J., Hudgins, Louanne, Janssens, Sandra, Keller, Kory, Kelly-Mancuso, Geraldine, Kochhar, Aaina, Korf, Bruce R., Lewis, Andrea M., Liebelt, Jan, Lichty, Angie, Listernick, Robert H., Lyons, Michael J., Maystadt, Isabelle, Ojeda, Mayra Martinez, McDougall, Carey, McGregor, Lesley K., Melis, Daniela, Mendelsohn, Nancy, Nowaczyk, Malgorzata J. M., Ortenberg, June, Panzer, Karin, Pappas, John G., Pierpont, Mary Ella, Piluso, Giulio, Pinna, Valentina, Pivnick, Eniko K., Pond, Dinel A., Powell, Cynthia M., Rogers, Caleb, Shahar, Noa Ruhrman, Rutledge, S. Lane, Saletti, Veronica, Sandaradura, Sarah A., Santoro, Claudia, Schatz, Ulrich A., Schreiber, Allison, Scott, Daryl A., Sellars, Elizabeth A., Sheffer, Ruth, Siqveland, Elizabeth, Slopis, John M., Smith, Rosemarie, Spalice, Alberto, Stockton, David W., Streff, Haley, Theos, Amy, Tomlinson, Gail E., Tran, Grace, Trapane, Pamela L., Trevisson, Eva, Ullrich, Nicole J., van den Ende, Jenneke, Vergano, Samantha A. Schrier, Wallace, Stephanie E., Wangler, Michael F., Weaver, David D., Yohay, Kaleb H., Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen B. M., Eoli, Marica, Martin, Yolanda, Wimmer, Katharina, De Luca, Alessandro, Legius, Eric, Messiaen, Ludwine M.

المصدر: 1059-7794 ; Human mutation

مصطلحات موضوعية: Human medicine

وصف الملف: pdf

العلاقة: info:eu-repo/semantics/altIdentifier/isi/000492598500001

الإتاحة: https://doi.org/10.1002/HUMU.23929Test
https://hdl.handle.net/10067/1646780151162165141Test
https://repository.uantwerpen.be/docman/irua/13fa5b/164678.pdfTest

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: Wojcik, Monica H., Bresnahan, Mairead, del Rosario, Maya C., Ojeda, Mayra Martinez, Kritzer, Amy, Fraiman, Yarden S.

المصدر: Pediatric Research ; volume 93, issue 1, page 110-117 ; ISSN 0031-3998 1530-0447

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1038/s41390-022-02240-3Test
https://www.nature.com/articles/s41390-022-02240-3.pdfTest
https://www.nature.com/articles/s41390-022-02240-3Test

المؤلفون: Wojcik, Monica H., Bresnahan, Mairead, del Rosario, Maya C., Ojeda, Mayra Martinez, Kritzer, Amy, Fraiman, Yarden S.

المصدر: Pediatric Research; Jan2023, Vol. 93 Issue 1, p110-117, 8p

المؤلفون: Koczkowska, Magdalena, Callens, Tom, Chen, Yunjia, Gomes, Alicia, Hicks, Alesha D., Sharp, Angela, Johns, Eric, Uhas, Kim Armfield, Armstrong, Linlea, Bosanko, Katherine Armstrong, Babovic‐Vuksanovic, Dusica, Baker, Laura, Basel, Donald G, Bengala, Mario, Bennett, James T, Chambers, Chelsea, Clarkson, Lola K, Clementi, Maurizio, Cortés, Fanny M, Cunningham, Mitch, D'Agostino, M Daniela, Delatycki, Martin B, Digilio, Maria C, Dosa, Laura, Esposito, Silvia, Fox, Stephanie, Freckmann, Mary‐Louise, Fauth, Christine, Giugliano, Teresa, Giustini, Sandra, Goetsch, Allison, Goldberg, Yael, Greenwood, Robert S, Griffis, Cristin, Gripp, Karen W, Gupta, Punita, Haan, Eric, Hachen, Rachel K, Haygarth, Tamara L, Hernández‐Chico, Concepción, Hodge, Katelyn, Hopkin, Robert J, Hudgins, Louanne, Janssens, Sandra, Keller, Kory, Kelly‐Mancuso, Geraldine, Kochhar, Aaina, Korf, Bruce R, Lewis, Andrea M, Liebelt, Jan, Lichty, Angie, Listernick, Robert H, Lyons, Michael J, Maystadt, Isabelle, Ojeda, Mayra Martinez, McDougall, Carey, McGregor, Lesley K., Melis, Daniela, Mendelsohn, Nancy, Nowaczyk, Malgorzata JM, Ortenberg, June, Panzer, Karin, Pappas, John G, Pierpont, Mary Ella, Piluso, Giulio, Pinna, Valentina, Pivnick, Eniko K, Pond, Dinel A, Powell, Cynthia M, Rogers, Caleb, Shahar, Noa Ruhrman, Rutledge, S Lane, Saletti, Veronica, Sandaradura, Sarah A, Santoro, Claudia, Schatz, Ulrich A, Schreiber, Allison, Scott, Daryl A, Sellars, Elizabeth A, Sheffer, Ruth, Siqveland, Elizabeth, Slopis, John M, Smith, Rosemarie, Spalice, Alberto, Stockton, David W, Streff, Haley, Theos, Amy, Tomlinson, Gail E, Tran, Grace, Trapane, Pamela L, Trevisson, Eva, Ullrich, Nicole J, Van den Ende, Jenneke, Schrier Vergano, Samantha A, Wallace, Stephanie E, Wangler, Michael F, Weaver, David D, Yohay, Kaleb H, Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen, Eoli, Marica, Martin, Yolanda, Wimmer, Katharina, De Luca, Alessandro, Legius, Eric, Messiaen, Ludwine M

المصدر: HUMAN MUTATION ; ISSN: 1059-7794 ; ISSN: 1098-1004

مصطلحات موضوعية: Medicine and Health Sciences, genotype-phenotype correlation, NF1, p.Arg1276, p.Lys1423, p.Met1149, OPTIC PATHWAY TUMORS, SOUTH EAST WALES, AU-LAIT SPOTS, NOONAN-SYNDROME, VONRECKLINGHAUSEN NEUROFIBROMATOSIS, SPINAL NEUROFIBROMATOSIS, PULMONARY STENOSIS, NATURAL-HISTORY, INDEPENDENT NF1, MUTATIONS

وصف الملف: application/pdf

العلاقة: https://biblio.ugent.be/publication/8632274Test; http://hdl.handle.net/1854/LU-8632274Test; http://dx.doi.org/10.1002/humu.23929Test; https://biblio.ugent.be/publication/8632274/file/8639135Test

الإتاحة: https://doi.org/10.1002/humu.23929Test
https://biblio.ugent.be/publication/8632274Test
http://hdl.handle.net/1854/LU-8632274Test
https://biblio.ugent.be/publication/8632274/file/8639135Test

المؤلفون: Shao, Diane D., Achkar, Christelle M., Lai, Abbe, Srivastava, Siddharth, Doan, Ryan N., Rodan, Lance H., Chen, Allen Y., Poduri, Annapurna, Yang, Edward, Walsh, Christopher A., Irons, Mira B., Johnson, Ervin L., Ojeda, Mayra Martinez, Olson, Heather E., Sahin, Mustafa, Stredny, Coral M., Tan, Wen‐Hann

المصدر: Annals of Neurology; Dec2020, Vol. 88 Issue 6, p1153-1164, 12p

مصطلحات موضوعية: ELECTRONIC health records, PEOPLE with epilepsy, DEVELOPMENTAL delay

المؤلفون: Frugoni, Francesco, Dobbs, Kerry, Felgentreff, Kerstin, Aldhekri, Hasan, Al Saud, Bandar K., Arnaout, Rand, Ali, Afshan Ashraf, Abhyankar, Avinash, Alroqi, Fayhan, Ojeda, Mayra Martinez, Tsitsikov, Erdyni, Pai, Sung Yun, Casanova, Jean Laurent, Notarangelo, Luigi D., Manis, John P., GILIANI, Silvia Clara

المساهمون: Frugoni, Francesco, Dobbs, Kerry, Felgentreff, Kerstin, Aldhekri, Hasan, Al Saud, Bandar K., Arnaout, Rand, Ali, Afshan Ashraf, Abhyankar, Avinash, Alroqi, Fayhan, Giliani, Silvia Clara, Ojeda, Mayra Martinez, Tsitsikov, Erdyni, Pai, Sung Yun, Casanova, Jean Laurent, Notarangelo, Luigi D., Manis, John P.

مصطلحات موضوعية: Immunology and Allergy, Immunology

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26365386; info:eu-repo/semantics/altIdentifier/wos/WOS:000369235500042; journal:JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY; http://hdl.handle.net/11379/464318Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84957947152; http://www.elsevier.com/inca/publications/store/6/2/3/3/6/8/index.httTest

الإتاحة: https://doi.org/10.1016/j.jaci.2015.06.049Test
http://hdl.handle.net/11379/464318Test
http://www.elsevier.com/inca/publications/store/6/2/3/3/6/8/index.httTest