المؤلفون: Chisholm, Anita K., Lami, Francesca, Haebich, Kristina M., Ure, Alex, Brignell, Amanda, Maloof, Tiba, Pride, Natalie A., Walsh, Karin S., Maier, Alice, Rouel, Melissa, Granader, Yael, Barton, Belinda, Darke, Hayley, Fuelscher, Ian, Dabscheck, Gabriel, Anderson, Vicki A., Williams, Katrina, North, Kathryn N., Payne, Jonathan M. (ORCID 0000-0001-9565-3845)

المصدر: Journal of Autism and Developmental Disorders. Jul 2023 53(7):2835-2850.

Peer Reviewed: Y

Page Count: 16

Descriptors: Gender Differences, Age Differences, Autism Spectrum Disorders, Symptoms (Individual Disorders), Genetic Disorders, Diagnostic Tests, Observation, Social Behavior

Assessment and Survey Identifiers: Social Responsiveness Scale, Autism Diagnostic Observation Schedule

المؤلفون: de Blank, Peter MK, Gross, Andrea M, Akshintala, Srivandana, Blakeley, Jaishri O, Bollag, Gideon, Cannon, Ashley, Dombi, Eva, Fangusaro, Jason, Gelb, Bruce D, Hargrave, Darren, Kim, AeRang, Klesse, Laura J, Loh, Mignon, Martin, Staci, Moertel, Christopher, Packer, Roger, Payne, Jonathan M, Rauen, Katherine A, Rios, Jonathan J, Robison, Nathan, Schorry, Elizabeth K, Shannon, Kevin, Stevenson, David A, Stieglitz, Elliot, Ullrich, Nicole J, Walsh, Karin S, Weiss, Brian D, Wolters, Pamela L, Yohay, Kaleb, Yohe, Marielle E, Widemann, Brigitte C, Fisher, Michael J

المصدر: Neuro-Oncology. 24(11)

مصطلحات موضوعية: Neurosciences, Neurofibromatosis, Rare Diseases, Cancer, Pediatric, Child, Humans, Consensus, Mitogen-Activated Protein Kinase Kinases, Neurofibroma, Plexiform, Neurofibromatosis 1, Protein Kinase Inhibitors, low-grade glioma, MEK inhibitors, neurofibromatosis type 1, plexiform neurofibromas, RASopathy, Oncology and Carcinogenesis, Oncology & Carcinogenesis

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/68v541w1

المؤلفون: Walsh, Karin S., Mrakotsky, Christine, Carcao, Manuel, Chan, Anthony K.C., Nielsen, Pernille Højlund, Holst, Helle, Shapiro, Kevin

المساهمون: Novo Nordisk A/S

المصدر: Research and Practice in Thrombosis and Haemostasis ; volume 8, issue 2, page 102341 ; ISSN 2475-0379

الاتاحة: http://dx.doi.org/10.1016/j.rpth.2024.102341
https://api.elsevier.com/content/article/PII:S2475037924000293?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2475037924000293?httpAccept=text/plain

المؤلفون: Gripp, Karen W, Schill, Lisa, Schoyer, Lisa, Stronach, Beth, Bennett, Anton M, Blaser, Susan, Brown, Amanda, Burdine, Rebecca, Burkitt-Wright, Emma, Castel, Pau, Darilek, Sandra, Dias, Alwyn, Dyer, Tuesdi, Ellis, Michelle, Erickson, Gregg, Gelb, Bruce D, Green, Tamar, Gross, Andrea, Ho, Alan, Holder, James Lloyd, Inoue, Shin-Ichi, Jelin, Angie C, Kennedy, Annie, Klein, Richard, Kontaridis, Maria I, Magoulas, Pilar, McConnell, Darryl B, McCormick, Frank, Neel, Benjamin G, Prada, Carlos E, Rauen, Katherine A, Roberts, Amy, Rodriguez-Viciana, Pablo, Rosen, Neal, Rumbaugh, Gavin, Sablina, Anna, Solman, Maja, Tartaglia, Marco, Thomas, Angelica, Timmer, William C, Venkatachalam, Kartik, Walsh, Karin S, Wolters, Pamela L, Yi, Jae-Sung, Zenker, Martin, Ratner, Nancy

المصدر: American journal of medical genetics. Part A. 182(3)

مصطلحات موضوعية: Humans, Genetic Diseases, Inborn, ras Proteins, Mitogen-Activated Protein Kinase Kinases, Signal Transduction, Germ-Line Mutation, Costello syndrome, Noonan syndrome, RASopathy, cardio-facio-cutaneous syndrome, kinases, neurofibromatosis, Rare Diseases, Genetics, Good Health and Well Being, Clinical Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5628r91h

المؤلفون: Payne, Jonathan M, Barton, Belinda, Ullrich, Nicole J, Cantor, Alan, Hearps, Stephen JC, Cutter, Gary, Rosser, Tena, Walsh, Karin S, Gioia, Gerard A, Wolters, Pamela L, Tonsgard, James, Schorry, Elizabeth, Viskochil, David, Klesse, Laura, Fisher, Michael, Gutmann, David H, Silva, Alcino J, Hunter, Scott J, Rey-Casserly, Celiane, Cantor, Nancy L, Byars, Anna W, Stavinoha, Peter L, Ackerson, Joseph D, Armstrong, Carol L, Isenberg, Jill, O'Neil, Sharon H, Packer, Roger J, Korf, Bruce, Acosta, Maria T, North, Kathryn N

المصدر: Neurology. 87(24)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Pediatric, Behavioral and Social Science, Clinical Trials and Supportive Activities, Mental Health, Neurofibromatosis, Clinical Research, Rehabilitation, Rare Diseases, Basic Behavioral and Social Science, Evaluation of treatments and therapeutic interventions, 6.1 Pharmaceuticals, Attention, Attention Deficit Disorder with Hyperactivity, Double-Blind Method, Executive Function, Female, Humans, Learning, Lovastatin, Male, Neurofibromatosis 1, Neuropsychological Tests, Quality of Life, NF Clinical Trials Consortium, Cognitive Sciences, Neurology & Neurosurgery, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/26876328

المؤلفون: Walsh, Karin S, Janusz, Jennifer, Wolters, Pamela L, Martin, Staci, Klein-Tasman, Bonita P, Toledo-Tamula, Mary Anne, Thompson, Heather L, Payne, Jonathan M, Hardy, Kristina K, de Blank, Peter, Semerjian, Claire, Gray, Laura Schaffner, Solomon, Sondra E, Ullrich, Nicole

المصدر: Neurology. 87(7_Supplement_1)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Basic Behavioral and Social Science, Clinical Trials and Supportive Activities, Pediatric, Rare Diseases, Neurofibromatosis, Clinical Research, Mental Health, Behavioral and Social Science, Attention, Clinical Trials as Topic, Humans, Neurofibromatosis 1, Neuropsychological Tests, Treatment Outcome, REiNS International Collaboration, Cognitive Sciences, Neurology & Neurosurgery, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/71c4s3mf

المؤلفون: Chisholm, Anita K., Haebich, Kristina M., Pride, Natalie A., Walsh, Karin S., Lami, Francesca, Ure, Alex, Maloof, Tiba, Brignell, Amanda, Rouel, Melissa, Granader, Yael, Maier, Alice, Barton, Belinda, Darke, Hayley, Dabscheck, Gabriel, Anderson, Vicki A., Williams, Katrina, North, Kathryn N., Payne, Jonathon M.

مصطلحات موضوعية: autism, autistic behaviours, Autism Diagnostic Interview-Revised (ADI-R), Autism Diagnostic Observation Schedule-Second Edition (ADOS-2), neurofibromatosis type 1

وصف الملف: application/pdf

Relation: https://acuresearchbank.acu.edu.au/item/8zw18/delineating-the-autistic-phenotype-in-children-with-neurofibromatosis-type-1; https://acuresearchbank.acu.edu.au/download/0ef6b6300211fdfecdcc12876698e596219408e14a69e3328381b426511f1595/3504728/OA_Chisholm_2022_Delineating_the_autistic_phenotype_in_children.pdf; https://doi.org/10.1186/s13229-021-00481-3; Chisholm, Anita K., Haebich, Kristina M., Pride, Natalie A., Walsh, Karin S., Lami, Francesca, Ure, Alex, Maloof, Tiba, Brignell, Amanda, Rouel, Melissa, Granader, Yael, Maier, Alice, Barton, Belinda, Darke, Hayley, Dabscheck, Gabriel, Anderson, Vicki A., Williams, Katrina, North, Kathryn N. and Payne, Jonathon M. (2022). Delineating the autistic phenotype in children with neurofibromatosis type 1. Molecular Autism. 13, p. Article 3. https://doi.org/10.1186/s13229-021-00481-3

الاتاحة: https://acuresearchbank.acu.edu.au/download/0ef6b6300211fdfecdcc12876698e596219408e14a69e3328381b426511f1595/3504728/OA_Chisholm_2022_Delineating_the_autistic_phenotype_in_children.pdf
https://doi.org/10.1186/s13229-021-00481-3

المؤلفون: Walsh, Karin S.^1,2 (AUTHOR) kwalsh@childrensnational.org, Pizer, Barry³ (AUTHOR), Samargia-Grivette, Sharyl⁴ (AUTHOR), Lux, Andrew L.⁵ (AUTHOR), Schmahmann, Jeremy D.⁶ (AUTHOR), Hartley, Helen⁷ (AUTHOR), Avula, Shivaram⁸ (AUTHOR)

المصدر: Child's Nervous System. Jul2024, Vol. 40 Issue 7, p2177-2191. 15p.

مصطلحات موضوعية: *POSTERIOR fossa syndrome, *ART & society, *CIVIL society, *ART associations, *SYNDROMES

مصطلحات جغرافية: LIVERPOOL (England), UNITED Kingdom

المؤلفون: Fangusaro, Jason, Avery, Robert A, Fisher, Michael J, Packer, Roger J, Walsh, Karin S, Schouten-van Meeteren, Antoinette, Karres, Dominik, Bradford, Diana, Bhatnagar, Vishal, Singh, Harpreet, Kluetz, Paul G, Donoghue, Martha, Duke, Elizabeth S

المصدر: GW Authored Works

Relation: https://hsrc.himmelfarb.gwu.edu/gwhpubs/5165; https://doi.org/10.1158/1078-0432.CCR-23-3386

الاتاحة: https://hsrc.himmelfarb.gwu.edu/gwhpubs/5165
https://doi.org/10.1158/1078-0432.CCR-23-3386

المؤلفون: Mrakotsky, Christine, Walsh, Karin S, Buranahirun Burns, Cathy, Croteau, Stacy E, Markert, Anja, Geybels, Milan, Hannemann, Cara, Rajpurkar, Madhvi, Shapiro, Kevin A, Wilkening, Greta N, Ventola, Pamela, Cooper, David L

المصدر: GW Authored Works

مصطلحات موضوعية: hemophilia, neurology, neuropsychology

Relation: https://hsrc.himmelfarb.gwu.edu/gwhpubs/4961; https://doi.org/10.1016/j.jpeds.2024.114089

الاتاحة: https://hsrc.himmelfarb.gwu.edu/gwhpubs/4961
https://doi.org/10.1016/j.jpeds.2024.114089

المؤلفون: Klein-Tasman, Bonita P., Lee, Kristin, Thompson, Heather L., Janusz, Jennifer, Payne, Jonathan M., Pardej, Sara, de Blank, Peter, Kennedy, Tess, Janke, Kelly M., Castillo, Allison del, Walsh, Karin S.

المصدر: Neurology ; volume 97, issue 7_Supplement_1 ; ISSN 0028-3878 1526-632X

الاتاحة: http://dx.doi.org/10.1212/wnl.0000000000012423
https://www.neurology.org/doi/pdfdirect/10.1212/WNL.0000000000012423

المؤلفون: Walsh, Karin S., Wolters, Pamela L., Widemann, Brigitte C., Castillo, Allison del, Sady, Maegan D., Inker, Tess, Roderick, Marie Claire, Martin, Staci, Toledo-Tamula, Mary Anne, Struemph, Kari, Paltin, Iris, Collier, Victoria, Mullin, Kathy, Fisher, Michael J., Packer, Roger J.

المصدر: Neurology Genetics ; volume 7, issue 5 ; ISSN 2376-7839

الاتاحة: http://dx.doi.org/10.1212/nxg.0000000000000616
https://www.neurology.org/doi/pdfdirect/10.1212/NXG.0000000000000616

المؤلفون: Janusz, Jennifer A., Klein-Tasman, Bonita P., Payne, Jonathan M., Wolters, Pamela L., Thompson, Heather L., Martin, Staci, de Blank, Peter, Ullrich, Nicole, del Castillo, Allison, Hussey, Maureen, Hardy, Kristina K., Haebich, Kristina, Rosser, Tena, Toledo-Tamula, Mary Anne, Walsh, Karin S.

المصدر: Neurology ; volume 97, issue 7_Supplement_1 ; ISSN 0028-3878 1526-632X

الاتاحة: http://dx.doi.org/10.1212/wnl.0000000000012422
https://www.neurology.org/doi/pdfdirect/10.1212/WNL.0000000000012422

المؤلفون: Paquier, Philippe, Walsh, Karin S., Docking, Kimberley M., Hartley, Helen, Kumar, Ram, Catsman-Berrevoets, Coriene E.

المصدر: 0256-7040 ; Child's nervous system

مصطلحات موضوعية: Human medicine

وصف الملف: pdf

Relation: info:eu-repo/semantics/altIdentifier/isi/000535831800020

الاتاحة: https://hdl.handle.net/10067/1601740151162165141
https://repository.uantwerpen.be/docman/irua/7657ea/160174.pdf

المؤلفون: Molinari, Emanuela, Pizer, Barry, Catsman-Berrevoets, Coriene, Avula, Shivaram, Keating, Robert, Paquier, Philippe, Wisoff, Jeffrey H., Walsh, Karin S.

المصدر: 0256-7040 ; Child's nervous system

مصطلحات موضوعية: Human medicine

وصف الملف: pdf

Relation: info:eu-repo/semantics/altIdentifier/isi/000535831800012

الاتاحة: https://hdl.handle.net/10067/1600170151162165141
https://repository.uantwerpen.be/docman/irua/ce3037/160017_2020_06_09.pdf

المؤلفون: Ullrich, Nicole J., Payne, Jonathan M., Walsh, Karin S., Cutter, Gary, Packer, Roger, North, Kathryn, Rey‐Casserly, Celiane

المساهمون: Medical Research and Materiel Command

المصدر: Annals of Clinical and Translational Neurology ; volume 7, issue 2, page 245-249 ; ISSN 2328-9503 2328-9503

الاتاحة: http://dx.doi.org/10.1002/acn3.50976
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Facn3.50976
https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.50976
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/acn3.50976

المؤلفون: Payne, Jonathan M, Walsh, Karin S, Pride, Natalie A, Haebich, Kristina M, Maier, Alice, Chisholm, Anita, Glad, Danielle M, Casnar, Christina L, Rouel, Melissa, Lorenzo, Jennifer, Del Castillo, Allison, North, Kathryn N, Klein‐Tasman, Bonita

المساهمون: US Department of Defence Investigator Initiated Research Award as part of the Neurofibromatosis Research Program

المصدر: Developmental Medicine & Child Neurology ; volume 62, issue 7, page 813-819 ; ISSN 0012-1622 1469-8749

الاتاحة: http://dx.doi.org/10.1111/dmcn.14517
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fdmcn.14517
https://onlinelibrary.wiley.com/doi/pdf/10.1111/dmcn.14517
https://onlinelibrary.wiley.com/doi/full-xml/10.1111/dmcn.14517

المؤلفون: Haebich, Kristina M, Pride, Natalie A, Walsh, Karin S, Chisholm, Anita, Rouel, Melissa, Maier, Alice, Anderson, Vicki, Barton, Belinda, Silk, Tim, Korgaonkar, Mayuresh, Seal, Marc, Lami, Francesca, Lorenzo, Jennifer, Williams, Katrina, Dabscheck, Gabriel, Rae, Caroline D, Kean, Michael, North, Kathryn N, Payne, Jonathan M

مصطلحات موضوعية: Protocol

وصف الملف: text/html

Relation: http://bmjopen.bmj.com/cgi/content/short/9/9/e030601; http://dx.doi.org/10.1136/bmjopen-2019-030601

الاتاحة: http://bmjopen.bmj.com/cgi/content/short/9/9/e030601
https://doi.org/10.1136/bmjopen-2019-030601

المؤلفون: Payne, Jonathan M., Hearps, Stephen J. C., Walsh, Karin S., Paltin, Iris, Barton, Belinda, Ullrich, Nicole J., Haebich, Kristina M., Coghill, David, Gioia, Gerard A., Cantor, Alan, Cutter, Gary, Tonsgard, James H., Viskochil, David, Rey‐Casserly, Celiane, Schorry, Elizabeth K., Ackerson, Joseph D., Klesse, Laura, Fisher, Michael J., Gutmann, David H., Rosser, Tena, Packer, Roger J., Korf, Bruce, Acosta, Maria T., North, Kathryn N.

المساهمون: U.S. Department of Defense

المصدر: Annals of Clinical and Translational Neurology ; volume 6, issue 12, page 2555-2565 ; ISSN 2328-9503 2328-9503

الاتاحة: http://dx.doi.org/10.1002/acn3.50952
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Facn3.50952
https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.50952
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/acn3.50952
https://onlinelibrary.wiley.com/doi/am-pdf/10.1002%2Facn3.50952

المؤلفون: Buranahirun, Cathy, Walsh, Karin S., Mrakotsky, Christine, Croteau, Stacy E., Rajpurkar, Madhvi, Kearney, Susan, Hannemann, Cara, Wilkening, Greta N., Shapiro, Kevin A., Cooper, David L.

المصدر: Pediatric Blood & Cancer ; volume 67, issue 1 ; ISSN 1545-5009 1545-5017

الاتاحة: http://dx.doi.org/10.1002/pbc.28004
https://onlinelibrary.wiley.com/doi/pdf/10.1002/pbc.28004
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/pbc.28004