부산대학교 도서관

Julie Xian; Kim Marie Thalwitzer; Jillian McKee; Katie Rose Sullivan; Elise Brimble; Eryn Fitch; Jonathan Toib; Michael C. Kaufman; Danielle deCampo; Kristin Cunningham; Samuel R. Pierce; James Goss; Charlene Son Rigby; Steffen Syrbe; Michael Boland; Ben Prosser; Nasha Fitter; Sarah M. Ruggiero; Ingo Helbig

medRxiv
Brain

Katie R. Sullivan; Sarah M. Ruggiero; Julie Xian; Kim M. Thalwitzer; Rahma Ali; Sydni Stewart; Mahgenn Cosico; Jackie Steinberg; James Goss; Anna C. Pfalzer; Kyle J. Horning; Nicole Weitzel; Sydney Corey; Laura Conway; Charlene Son Rigby; Terry Jo Bichell; Ingo Helbig

Epilepsia Open
Epilepsia Open, Vol 8, Iss 2, Pp 320-333 (2023)

Xian, Julie; Parthasarathy, Shridhar; Ruggiero, Sarah M; Balagura, Ganna; Fitch, Eryn; Helbig, Katherine; Gan, Jing; Ganesan, Shiva; Kaufman, Michael C; Ellis, Colin A; Lewis-Smith, David; Galer, Peter; Cunningham, Kristin; O'Brien, Margaret; Cosico, Mahgenn; Baker, Kate; Darling, Alejandra; Veiga De Goes, Fernanda; El Achkar, Christelle M; Doering, Jan Henje; Furia, Francesca; García-Cazorla, Ángeles; Gardella, Elena; Geertjens, Lisa; Klein, Courtney; Kolesnik-Taylor, Anna; Lammertse, Hanna; Lee, Jeehun; Mackie, Alexandra; Misra-Isrie, Mala; Olson, Heather; Sexton, Emma; Sheidley, Beth; Smith, Lacey; Sotero, Luiza; Stamberger, Hannah; Syrbe, Steffen; Thalwitzer, Kim Marie; Van Berkel, Annemiek; Van Haelst, Mieke; Yuskaitis, Christopher; Weckhuysen, Sarah; Prosser, Ben; Son Rigby, Charlene; Demarest, Scott; Pierce, Samuel; Zhang, Yuehua; Møller, Rikke S; Bruining, Hilgo; Poduri, Annapurna; Zara, Federico; Verhage, Matthijs; Striano, Pasquale; Helbig, Ingo

Brain
BRAIN
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
instname
Xian, J, Parthasarathy, S, Ruggiero, S M, Balagura, G, Fitch, E, Helbig, K, Gan, J, Ganesan, S, Kaufman, M C, Ellis, C A, Lewis-Smith, D, Galer, P, Cunningham, K, O'Brien, M, Cosico, M, Baker, K, Darling, A, Veiga de Goes, F, el Achkar, C M, Doering, J H, Furia, F, García-Cazorla, Á, Gardella, E, Geertjens, L, Klein, C, Kolesnik-Taylor, A, Lammertse, H, Lee, J, Mackie, A, Misra-Isrie, M, Olson, H, Sexton, E, Sheidley, B, Smith, L, Sotero, L, Stamberger, H, Syrbe, S, Thalwitzer, K M, van Berkel, A, van Haelst, M, Yuskaitis, C, Weckhuysen, S, Prosser, B, Son Rigby, C, Demarest, S, Pierce, S, Zhang, Y, Møller, R S, Bruining, H, Poduri, A, Zara, F, Verhage, M, Striano, P & Helbig, I 2022, 'Assessing the landscape of STXBP1-related disorders in 534 individuals', Brain, vol. 145, no. 5, pp. 1668-1683. https://doi.org/10.1093/brain/awab327

Zigler CK; Department of Physical Medicine & Rehabilitation, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.; McFatrich M; Department of Population Health Sciences, Duke University School of Medicine, Durham, NC, USA.; Lucas N; Department of Population Health Sciences, Duke University School of Medicine, Durham, NC, USA.; Plyler K; Department of Population Health Sciences, Duke University School of Medicine, Durham, NC, USA.; Zapata-Leiva L; Center for Communication Science, RTI International, Research Triangle Park, NC, USA.; Gordon K; Duke Health, Durham, NC, USA.; Jones HN; Department of Head and Neck Surgery & Communication Sciences, Duke University School of Medicine, Durham, NC, USA.; Lin L; Department of Population Health Sciences, Duke University School of Medicine, Durham, NC, USA.; Kern J; Duke Health, Durham, NC, USA.; Radar A; Department of Population Health Sciences, Duke University School of Medicine, Durham, NC, USA.; Chen D; Department of Population Health Sciences, Duke University School of Medicine, Durham, NC, USA.; Bergelson E; Department of Psychology, Harvard University, Cambridge, MA, USA.; Still K; Phelan-McDermid Syndrome Foundation, Laurel, FL, USA.; Hinger B; NR2F1 Foundation, Pflugerville, TX, USA.; Delagrammatikas CG; Malan Syndrome Foundation, Old Bridge, NJ, USA.; Poliquin S; COMBINEDBrain, Brentwood, TN, USA.; Short BP; COMBINEDBrain, Brentwood, TN, USA.; Marfia-Ash L; GRIN2B Foundation, Niles, IL, USA.; Stephens K; Muenzer MPS Research and Treatment Center at UNC, Chapel Hill, NC, USA.; Oyler HO; SETBP1 Society, Austin, TX, USA.; Graglia JM; SYNGAP Research Fund, San Diego, CA, USA.; Worth K; SYNGAP Research Fund, San Diego, CA, USA.; Son Rigby C; STXBP1 Foundation, Holly Springs, NC, USA.; Goss JR; STXBP1 Foundation, Holly Springs, NC, USA.; Bigelow B; Foundation for Hao-Fountain Syndrome, Falmouth, ME, USA.; Bliss G; CureSHANK, Los Angeles, CA, USA.; Beatty K; Project Alive, Davenport, FL, USA.; Schust Myers L; FamilieSCN2A Foundation, Gettysburg, PA, USA.; Thelen M; NR2F1 Foundation, Pflugerville, TX, USA.; Summerfield N; The Schinzel-Giedion Syndrome Foundation, West Sussex, UK.; Bichell TJ; COMBINEDBrain, Brentwood, TN, USA.; Reeve BB; Department of Population Health Sciences, Duke University School of Medicine, Durham, NC, USA.

Publisher: Blackwell Publishers Country of Publication: England NLM ID: 0375361 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-7610 (Electronic) Linking ISSN: 00219630 NLM ISO Abbreviation: J Child Psychol Psychiatry Subsets: MEDLINE

Trzupek K; Global Genes, 1012 14th Street NW, Washington, DC 20005, USA. Electronic address: karmen.trzupek@globalgenes.org.; Bhargava R; F. Hoffman-La Roche, 7070 Mississauga Rd, Mississauga, ON L5N 5M8, Canada.; Kuan C; Global Genes, 1012 14th Street NW, Washington, DC 20005, USA.; Sie F; F. Hoffman-La Roche, 7070 Mississauga Rd, Mississauga, ON L5N 5M8, Canada.; Vogel-Farley V; Global Genes, 1012 14th Street NW, Washington, DC 20005, USA; Rare Epilepsy Network (REN), 12042 Cedar Creek Rd, Cedarburg, WI 53012, USA.; Hobbs K; Global Genes, 1012 14th Street NW, Washington, DC 20005, USA.; Chung V; DreamChallenges, Sage Bionetworks, 2901 Third Ave. Suite 330, Seattle, WA 98121, USA.; Diaz M; DreamChallenges, Sage Bionetworks, 2901 Third Ave. Suite 330, Seattle, WA 98121, USA.; Son-Rigby C; Global Genes, 1012 14th Street NW, Washington, DC 20005, USA.; Geraci J; NetraMark, 1655 Dupont St Suite #101, Toronto, ON M6P 3T1, Canada.; Albrecht J; Bristol Myers Squibb, 3401 Princeton Pike, Lawrence, NJ 08648, USA.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE

Chapman, R.; Onukwugha, E.; Swenor, B.; Son Rigby, C.; Diaby, K.; Spangler, J.; Bright, J.

Value in Health. 26(6):S261-S261

Goss JR; STXBP1 Foundation, PO Box 1148, Holly Springs, NC 27540, USA.; Prosser B; Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Center for Epilepsy and Neurodevelopmental Disorders (ENDD), Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Helbig I; Division of Neurology, Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Center for Epilepsy and Neurodevelopmental Disorders (ENDD), Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Son Rigby C; STXBP1 Foundation, Holly Springs, NC, USA.

Publisher: Sage Country of Publication: England NLM ID: 9918557474706676 Publication Model: eCollection Cited Medium: Internet ISSN: 2633-0040 (Electronic) Linking ISSN: 26330040 NLM ISO Abbreviation: Ther Adv Rare Dis Subsets: PubMed not MEDLINE

Xian, Julie; Thalwitzer, Kim Marie; McKee, Jillian; Sullivan, Katie Rose; Brimble, Elise; Fitch, Eryn; Toib, Jonathan; Kaufman, Michael C; deCampo, Danielle; Cunningham, Kristin; Pierce, Samuel R; Goss, James; Rigby, Charlene Son; Syrbe, Steffen; Boland, Michael; Prosser, Benjamin; Fitter, Nasha; Ruggiero, Sarah M; Helbig, Ingo

Brain: A Journal of Neurology (BRAIN), Dec2023; 146(12): 5182-5197. (16p)

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In Nuclear Physics, Section B 2003 658(1):3-46

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In Nuclear Physics, Section B 2002 637(1):3-56

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Physics Reports. 532(4):119-244

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