المؤلفون: Stegmann, Jil D, Kalanithy, Jeshurun C, Dworschak, Gabriel C, Ishorst, Nina, Mingardo, Enrico, Lopes, Filipa M, Ho, Yee Mang, Grote, Phillip, Lindenberg, Tobias T, Yilmaz, Öznur, Channab, Khadija, Seltzsam, Steve, Shril, Shirlee, Hildebrandt, Friedhelm, Boschann, Felix, Heinen, André, Jolly, Angad, Myers, Katherine, McBride, Kim, Bekheirnia, Mir Reza, Bekheirnia, Nasim, Scala, Marcello, Morleo, Manuela, Nigro, Vincenzo, Torella, Annalaura, Pinelli, Michele, Capra, Valeria, Accogli, Andrea, Maitz, Silvia, Spano, Alice, Olson, Rory J, Klee, Eric W, Lanpher, Brendan C, Jang, Se Song, Chae, Jong-Hee, Steinbauer, Philipp, Rieder, Dietmar, Janecke, Andreas R, Vodopiutz, Julia, Vogel, Ida, Blechingberg, Jenny, Cohen, Jennifer L, Riley, Kacie, Klee, Victoria, Walsh, Laurence E, Begemann, Matthias, Elbracht, Miriam, Eggermann, Thomas, Stuurman, Kyra, van Slegtenhorst, Marjon

المصدر: Stegmann , J D , Kalanithy , J C , Dworschak , G C , TUDP consortium , Ishorst , N , Mingardo , E , Lopes , F M , Ho , Y M , Grote , P , Lindenberg , T T , Yilmaz , Ö , Channab , K , Seltzsam , S , Shril , S , Hildebrandt , F , Boschann , F , Heinen , A , Jolly , A , Myers , K , McBride , K , Bekheirnia , M R , Bekheirnia , N , Scala , M , Morleo ....

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/9da6fe48-84bb-49b0-9137-de45838f8c14Test

الإتاحة: https://doi.org/10.1038/s41525-024-00398-9Test
https://pure.eur.nl/en/publications/9da6fe48-84bb-49b0-9137-de45838f8c14Test
https://pure.eur.nl/ws/files/137962317/s41525-024-00398-9.pdfTest
http://www.scopus.com/inward/record.url?scp=85186632646&partnerID=8YFLogxKTest

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: Hackl, Margaret, Cook, Lola, Wetherill, Leah, Walsh, Laurence E., Delk, Paula, De León, Rebeca, Carbonell, Janfreisy, Cruz Vicioso, Rossy, Delgado Hodges, Priscila

المساهمون: Medical and Molecular Genetics, School of Medicine

المصدر: PMC

مصطلحات موضوعية: Research data, Parkinson's disease, Genetic testing

وصف الملف: application/pdf

العلاقة: NPJ Parkinson's Disease; Hackl M, Cook L, Wetherill L, et al. Readiness for Parkinson's disease genetic testing and counseling in patients and their relatives in urban settings in the Dominican Republic. NPJ Parkinsons Dis. 2023;9(1):126. Published 2023 Aug 29. doi:10.1038/s41531-023-00569-y; https://hdl.handle.net/1805/38986Test

الإتاحة: https://doi.org/10.1038/s41531-023-00569-yTest
https://hdl.handle.net/1805/38986Test

المؤلفون: Skraban, Cara M, Wells, Constance F, Markose, Preetha, Cho, Megan T, Nesbitt, Addie I, Au, PY Billie, Begtrup, Amber, Bernat, John A, Bird, Lynne M, Cao, Kajia, de Brouwer, Arjan PM, Denenberg, Elizabeth H, Douglas, Ganka, Gibson, Kristin M, Grand, Katheryn, Goldenberg, Alice, Innes, A Micheil, Juusola, Jane, Kempers, Marlies, Kinning, Esther, Markie, David M, Owens, Martina M, Payne, Katelyn, Person, Richard, Pfundt, Rolph, Stocco, Amber, Turner, Claire LS, Verbeek, Nienke E, Walsh, Laurence E, Warner, Taylor C, Wheeler, Patricia G, Wieczorek, Dagmar, Wilkens, Alisha B, Zonneveld-Huijssoon, Evelien, Study, Deciphering Developmental Disorders, Kleefstra, Tjitske, Robertson, Stephen P, Santani, Avni, van Gassen, Koen LI, Deardorff, Matthew A

المصدر: American Journal of Human Genetics. 101(1)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Dental/Oral and Craniofacial Disease, Rare Diseases, Neurodegenerative, Epilepsy, Clinical Research, Pediatric, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Adaptor Proteins, Signal Transducing, Amino Acid Sequence, Base Sequence, Child, Preschool, Chromosome Deletion, Facies, Female, Gait, Growth and Development, Haploinsufficiency, Humans, Intellectual Disability, Male, Mutation, Proteins, RNA Stability, Seizures, Syndrome, Deciphering Developmental Disorders Study, WD-40, WDR protein, WDR26, intellectual disability, seizure, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0q21846mTest

المؤلفون: Iwata-Otsubo, Aiko, Klee, Victoria H., Ahmad, Aaliya A., Walsh, Laurence E., Breman, Amy M.

المساهمون: Medical and Molecular Genetics, School of Medicine

المصدر: Publisher

مصطلحات موضوعية: 7q31, CMA, deletion, FOXP2, language, positional effect, speech

وصف الملف: application/pdf

العلاقة: Clinical Case Reports; Iwata-Otsubo, A., Klee, V. H., Ahmad, A. A., Walsh, L. E., & Breman, A. M. (2022). A 9.8 Mb deletion at 7q31.2q31.31 downstream of FOXP2 in an individual with speech and language impairment suggests a possible positional effect. Clinical Case Reports, 10(11), e6535. https://doi.org/10.1002/ccr3.6535Test; https://hdl.handle.net/1805/36735Test

الإتاحة: https://hdl.handle.net/1805/36735Test

المؤلفون: Tolley, James A., Walsh, Laurence E.

المساهمون: Anesthesia, School of Medicine

المصدر: PMC

مصطلحات موضوعية: Pediatric pain, Pediatric pain management, Pain, Axillary catheter, Lumbar epidural, Topical capsaicin, Capsaicin, Primary erythromelalgia, Erythromelalgia

وصف الملف: application/pdf

العلاقة: Cureus; Tolley JA, Walsh LE. Primary Erythromelalgia Treated With 10% Capsaicin Cream: A Case Report and a 10-Year Follow-Up. Cureus. 2022;14(8):e28342. Published 2022 Aug 24. doi:10.7759/cureus.28342; https://hdl.handle.net/1805/35231Test

الإتاحة: https://doi.org/10.7759/cureus.28342Test
https://hdl.handle.net/1805/35231Test

المؤلفون: Iwata‐Otsubo, Aiko, Klee, Victoria H., Ahmad, Aaliya A., Walsh, Laurence E., Breman, Amy M.

المصدر: Clinical Case Reports ; volume 10, issue 11 ; ISSN 2050-0904 2050-0904

الإتاحة: https://doi.org/10.1002/ccr3.6535Test

المؤلفون: Harris, Holly K., Nakayama, Tojo, Lai, Jenny, Zhao, Boxun, Argyrou, Nikoleta, Gubbels, Cynthia S., Soucy, Aubrie, Genetti, Casie A., Suslovitch, Victoria, Rodan, Lance H., Tiller, George E., Lesca, Gaetan, Gripp, Karen W., Asadollahi, Reza, Hamosh, Ada, Applegate, Carolyn D., Turnpenny, Peter D., Simon, Marleen E. H., Volker-Touw, Catharina M. L., van Gassen, Koen L. I., van Binsbergen, Ellen, Pfundt, Rolph, Gardeitchik, Thatjana, de Vries, Bert B. A., Immken, LaDonna L., Buchanan, Catherine, Willing, Marcia, Toler, Tomi L., Fassi, Emily, Baker, Laura, Vansenne, Fleur, Wang, Xiadong, Ambrus, Julian L., Fannemel, Madeleine, Posey, Jennifer E., Agolini, Emanuele, Novelli, Antonio, Rauch, Anita, Boonsawat, Paranchai, Fagerberg, Christina R., Larsen, Martin J., Kibaek, Maria, Labalme, Audrey, Poisson, Alice, Payne, Katelyn K., Walsh, Laurence E., Aldinger, Kimberly A., Balciuniene, Jorune, Skraban, Cara, Iqbal, Muhammad

المصدر: Harris , H K , Nakayama , T , Lai , J , Zhao , B , Argyrou , N , Gubbels , C S , Soucy , A , Genetti , C A , Suslovitch , V , Rodan , L H , Tiller , G E , Lesca , G , Gripp , K W , Asadollahi , R , Hamosh , A , Applegate , C D , Turnpenny , P D , Simon , M E H , Volker-Touw , C M L , van Gassen , K L I , van Binsbergen , E ....

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/0cec700f-320f-489c-b994-f6f3010f048bTest

الإتاحة: https://doi.org/10.1038/s41436-021-01114-zTest
https://hdl.handle.net/11370/0cec700f-320f-489c-b994-f6f3010f048bTest
https://research.rug.nl/en/publications/0cec700f-320f-489c-b994-f6f3010f048bTest
https://pure.rug.nl/ws/files/177557532/s41436_021_01114_z.pdfTest

المؤلفون: Goodman, Lindsey D., Cope, Heidi, Nil, Zelha, Ravenscroft, Thomas A., Charng, Wu-Lin, Lu, Shenzhao, Tien, An-Chi, Pfundt, Rolph, Koolen, David A., Haaxma, Charlotte A., Veenstra-Knol, Hermine E., Wassink-Ruiter, Jolien S. Klein, Wevers, Marijke R., Jones, Melissa, Walsh, Laurence E., Klee, Victoria H., Theunis, Miel, Legius, Eric, Steel, Dora, Barwick, Katy E. S., Kurian, Manju A., Mohammad, Shekeeb S., Dale, Russell C., Terhal, Paulien A., van Binsbergen, Ellen, Kirmse, Brian, Robinette, Bethany, Cogne, Benjamin, Isidor, Bertrand, Grebe, Theresa A., Kulch, Peggy, Hainline, Bryan E., Sapp, Katherine, Morava, Eva, Klee, Eric W., Macke, Erica L., Trapane, Pamela, Spencer, Christopher, Si, Yue, Begtrup, Amber, Moulton, Matthew J., Dutta, Debdeep, Kanca, Oguz, Wangler, Michael F., Yamamoto, Shinya, Bellen, Hugo J., Tan, Queenie K-G

المصدر: Undiagnosed Dis Network , Goodman , L D , Cope , H , Nil , Z , Ravenscroft , T A , Charng , W-L , Lu , S , Tien , A-C , Pfundt , R , Koolen , D A , Haaxma , C A , Veenstra-Knol , H E , Wassink-Ruiter , J S K , Wevers , M R , Jones , M , Walsh , L E , Klee , V H , Theunis , M , Legius , E , Steel , D , Barwick , K E S , Kurian , M ....

مصطلحات موضوعية: NUCLEAR-IMPORT, DE-NOVO, MUSHROOM BODY, GAL4 SYSTEM, C-FOS, TRANSPORTIN, MUTATIONS, PROTEINS, COMPLEX, EXPRESSION

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/390808ba-6c5d-4c60-b86b-8f0d24b5804eTest

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.06.019Test
https://hdl.handle.net/11370/390808ba-6c5d-4c60-b86b-8f0d24b5804eTest
https://research.rug.nl/en/publications/390808ba-6c5d-4c60-b86b-8f0d24b5804eTest
https://pure.rug.nl/ws/files/202793490/1_s2.0_S0002929721002676_main.pdfTest

المؤلفون: Ho, Chang Y., Love, Harrison L., Sokol, Deborah K., Walsh, Laurence E.

المساهمون: Radiology and Imaging Sciences, School of Medicine

المصدر: PMC

مصطلحات موضوعية: CACNA1A, Hemiplegic Migraines, Episodic Ataxia

وصف الملف: application/pdf

العلاقة: Radiology Case Reports; Ho CY, Love HL, Sokol DK, Walsh LE. Longitudinal MRI brain findings in the R1349Q pathogenic variant of CACNA1A. Radiol Case Rep. 2021;16(6):1276-1279. Published 2021 Mar 28. doi:10.1016/j.radcr.2021.02.052; https://hdl.handle.net/1805/29899Test

الإتاحة: https://doi.org/10.1016/j.radcr.2021.02.052Test
https://hdl.handle.net/1805/29899Test