المؤلفون: Banerjee, Jineta, Friedman, Jan M., Klesse, Laura J., Yohay, Kaleb H., Jordan, Justin T., Plotkin, Scott R., Allaway, Robert J., Blakeley, Jaishri O.

المصدر: Genetics in Medicine ; volume 25, issue 2, page 100324 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2022.10.007Test
https://api.elsevier.com/content/article/PII:S1098360022009881?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360022009881?httpAccept=text/plainTest

المؤلفون: Plotkin, Scott R.¹ splotkin@mgh.harvard.edu, Yohay, Kaleb H.², Nghiemphu, Phioanh L.³, Dinh, Christine T.⁴, Babovic-Vuksanovic, Dusica⁵, Merker, Vanessa L.¹, Bakker, Annette⁶, Fell, Geoffrey⁷, Trippa, Lorenzo⁷, Blakeley, Jaishri O.⁸

المصدر: New England Journal of Medicine. 6/27/2024, Vol. 390 Issue 24, p2284-2294. 11p.

مصطلحات موضوعية: *ACOUSTIC neuroma, *NEUROFIBROMATOSIS 2, *EPENDYMOMA, *ADVERSE health care events, *TUMORS, *TUMORS in children

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, 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, Martinez Ojeda, Mayra, 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, Ruhrman Shahar, Noa, 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 B M, Eoli, Marica, Martin, Yolanda, Wimmer, Katharina, De Luca, Alessandro, Legius, Eric, Messiaen, Ludwine M

المساهمون: 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, Martinez Ojeda, Mayra, 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, Ruhrman Shahar, Noa, 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

مصطلحات موضوعية: NF1, genotype-phenotype correlation, p.Arg1276, p.Lys1423, p.Met1149

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31595648; info:eu-repo/semantics/altIdentifier/wos/WOS:000492598500001; volume:41; issue:1; firstpage:299-315; lastpage:315; journal:HUMAN MUTATION; http://hdl.handle.net/11386/4744736Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85074609550

الإتاحة: https://doi.org/10.1002/humu.23929Test
http://hdl.handle.net/11386/4744736Test

المؤلفون: Yohay, Kaleb H., McCarthy, Matthew

المصدر: Common Neurosurgical Conditions in the Pediatric Practice ; page 71-92 ; ISBN 9781493938056 9781493938070

الإتاحة: https://doi.org/10.1007/978-1-4939-3807-0_7Test

المؤلفون: Yohay, Kaleb H., McCarthy, Matthew

المصدر: Common Neurosurgical Conditions in the Pediatric Practice; 2017, p71-92, 22p

المؤلفون: Yohay, Kaleb H.

المصدر: Seminars in Pediatric Neurology ; volume 13, issue 1, page 21-26 ; ISSN 1071-9091

مصطلحات موضوعية: Neurology (clinical), Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.spen.2006.01.007Test
https://api.elsevier.com/content/article/PII:S1071909106000118?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1071909106000118?httpAccept=text/plainTest

المؤلفون: Vicario, David S., Yohay, Kaleb H.

المصدر: Journal of Neurobiology ; volume 24, issue 4, page 488-505 ; ISSN 0022-3034 1097-4695

الإتاحة: https://doi.org/10.1002/neu.480240407Test

المؤلفون: Banerjee, Jineta, Friedman, Jan M., Klesse, Laura J., Yohay, Kaleb H., Jordan, Justin T., Plotkin, Scott R., Allaway, Robert J., Blakeley, Jaishri O.

المصدر: Genetics in Medicine; 20220101, Issue: Preprints