المؤلفون: Garza Flores, Alexandra, Nordgren, Ida, Pettersson, Maria, Dias-Santagata, Dora, Nilsson, Daniel, Hammarsjö, Anna, Lindstrand, Anna, Batkovskyte, Dominyka, Wiggs, Janey, Walton, David S., Goldenberg, Paula, Eisfeldt, Jesper, Lin, Angela E., Lachman, Ralph S., Nishimura, Gen, Grigelioniene, Giedre

المصدر: Frontiers in Genetics ; volume 14 ; ISSN 1664-8021

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Medicine

الإتاحة: https://doi.org/10.3389/fgene.2023.1174046Test

المؤلفون: Lines, Matthew A., Goldenberg, Paula, Wong, Ashley, Srivastava, Siddharth, Bayat, Allan, Hove, Hanne, Karstensen, Helena Gásdal, Anyane-Yeboa, Kwame, Liao, Jun, Jiang, Nan, May, Alison, Guzman, Edwin, Morleo, Manuela, D'Arrigo, Stefano, Ciaccio, Claudia, Pantaleoni, Chiara, Castello, Raffaele, McKee, Shane, Ong, Jinfon, Zibdeh-Lough, Hana, Tran-Mau-Them, Frederic, Gerasimenko, Anna, Heron, Delphine, Keren, Boris, Margot, Henri, de Sainte Agathe, Jean Madeleine, Burglen, Lydie, Voets, Thomas, Vriens, Joris, Innes, A. Micheil, Dyment, David A.

المصدر: Lines , M A , Goldenberg , P , Wong , A , Srivastava , S , Bayat , A , Hove , H , Karstensen , H G , Anyane-Yeboa , K , Liao , J , Jiang , N , May , A , Guzman , E , Morleo , M , D'Arrigo , S , Ciaccio , C , Pantaleoni , C , Castello , R , McKee , S , Ong , J , Zibdeh-Lough , H , Tran-Mau-Them , F , Gerasimenko , A , Heron , D , Keren , B , Margot ....

مصطلحات موضوعية: Genematcher, global developmental delay, intellectual disability, seizures, TRPM3, Epilepsy, Humans, Infant, Newborn, Diseases, Mutation, Missense, Developmental Disabilities/genetics, Whole Exome Sequencing, Intellectual Disability/genetics, Muscle Hypotonia/genetics, TRPM Cation Channels/genetics, Child

وصف الملف: application/pdf

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/29c6a551-d9c8-4cf5-a411-163a5cad88c4Test

الإتاحة: https://doi.org/10.1002/ajmg.a.62673Test
https://portal.findresearcher.sdu.dk/da/publications/29c6a551-d9c8-4cf5-a411-163a5cad88c4Test
https://findresearcher.sdu.dk/ws/files/200071127/ajmg.a.62673.pdfTest

المؤلفون: Bayat, Allan, Pendziwiat, Manuela, Obersztyn, Ewa, Goldenberg, Paula, Zacher, Pia, Döring, Jan Henje, Syrbe, Steffen, Begtrup, Amber, Borovikov, Artem, Sharkov, Artem, Karasińska, Aneta, Giżewska, Maria, Mitchell, Wendy, Morava, Eva, Møller, Rikke S, Rubboli, Guido

مصطلحات موضوعية: article, ScholarlyArticle, ddc:610, Published Version, Disease severity, Developmental Delay, Generalized Seizures, Myoclonic-atonic Seizures, Inherited Glycosylphosphatidylinositol-anchored Protein (Gpi-ap) Deficiency, Glycosylphosphatidylinositol Biosynthesis Defects

العلاقة: Frontiers in genetics -- 1664-8021; https://doi.org/10.3389/fgene.2021.663643Test; https://nbn-resolving.org/urn:nbn:de:gbv:8:3-2021-00697-8Test; https://macau.uni-kiel.de/receive/macau_mods_00001509Test; https://macau.uni-kiel.de/servlets/MCRFileNodeServlet/macau_derivate_00002568/fgene-12-663643.pdfTest

الإتاحة: https://doi.org/10.3389/fgene.2021.663643Test
https://nbn-resolving.org/urn:nbn:de:gbv:8:3-2021-00697-8Test
https://macau.uni-kiel.de/receive/macau_mods_00001509Test
https://macau.uni-kiel.de/servlets/MCRFileNodeServlet/macau_derivate_00002568/fgene-12-663643.pdfTest

المؤلفون: Wong, Jennifer C., Butler, Kameryn M., Shapiro, Lindsey, Thelin, Jacquelyn T., Mattison, Kari A., Garber, Kathryn B., Goldenberg, Paula C., Kubendran, Shobana, Schaefer, G. Bradley, Escayg, Andrew

المصدر: Frontiers in Pharmacology ; volume 12 ; ISSN 1663-9812

مصطلحات موضوعية: Pharmacology (medical), Pharmacology

الإتاحة: https://doi.org/10.3389/fphar.2021.748415Test

المؤلفون: Langhammer, Franziska, Maroofian, Reza, Badar, Rueda, Gregor, Anne, Rochman, Michelle, Ratliff, Jeffrey B, Koopmans, Marije, Herget, Theresia, Hempel, Maja, Kortüm, Fanny, Heron, Delphine, Mignot, Cyril, Keren, Boris, Brooks, Susan, Botti, Christina, Ben-Zeev, Bruria, Argilli, Emanuela, Sherr, Elliot H, Gowda, Vykuntaraju K, Srinivasan, Varunvenkat M, Bakhtiari, Somayeh, Kruer, Michael C, Salih, Mustafa A, Kuechler, Alma, Muller, Eric A, Blocker, Karli, Kuismin, Outi, Park, Kristen L, Kochhar, Aaina, Brown, Kathleen, Ramanathan, Subhadra, Clark, Robin Dawn, Elgizouli, Magdeldin, Melikishvili, Gia, Tabatadze, Nazhi, Stark, Zornitza, Mirzaa, Ghayda M, Ong, Jinfon, Grasshoff, Ute, Bevot, Andrea, von Wintzingerode, Lydia, Jamra, Rami Abou, Hennig, Yvonne, Goldenberg, Paula, Al Alam, Chadi, Charif, Majida, Boulouiz, Redouane, Bellaoui, Mohammed, Amrani, Rim, Al Mutairi, Fuad, Tamim, Abdullah M, Abdulwahab, Firdous, Alkuraya, Fowzan S, Khouj, Ebtissal Mohammad, Alvi, Javeria Raza, Sulta, Tipu, Hashemi, Narges, Karimiani, Ehsan Ghayoor, Ashrafzadeh, Farah, Imannezhad, Shima, Efthymiou, Stephanie, Houlden, Henry, Sticht, Heinrich, Zweier, Christiane

المصدر: Langhammer, Franziska; Maroofian, Reza; Badar, Rueda; Gregor, Anne; Rochman, Michelle; Ratliff, Jeffrey B; Koopmans, Marije; Herget, Theresia; Hempel, Maja; Kortüm, Fanny; Heron, Delphine; Mignot, Cyril; Keren, Boris; Brooks, Susan; Botti, Christina; Ben-Zeev, Bruria; Argilli, Emanuela; Sherr, Elliot H; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; . (2023). Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders. Genetics in medicine, 25(8), p. 100885. Springer Nature 10.1016/j.gim.2023.100885

مصطلحات موضوعية: 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://boris.unibe.ch/182494Test/

الإتاحة: https://doi.org/10.1016/j.gim.2023.100885Test
https://boris.unibe.ch/182494/1/1-s2.0-S1098360023008985-main.pdfTest
https://boris.unibe.ch/182494Test/

المؤلفون: Srivastava, Siddharth, Shaked, Hagar Mor, Gable, Kenneth, Gupta, Sita D, Pan, Xueyang, Somashekarappa, Niranjanakumari, Han, Gongshe, Mohassel, Payam, Gotkine, Marc, Doney, Elizabeth, Goldenberg, Paula, Tan, Queenie K G, Gong, Yi, Kleinstiver, Benjamin, Wishart, Brian, Cope, Heidi, Pires, Claudia Brito, Stutzman, Hannah, Spillmann, Rebecca C, Alejandro, Mercedes E, Azamian, Mahshid S, Bacino, Carlos A, Balasubramanyam, Ashok, Burrage, Lindsay C, Chao, Hsiao-Tuan, Clark, Gary D, Craigen, William J, Dai, Hongzheng, Dhar, Shweta U, Emrick, Lisa T, Goldman, Alica M, Hanchard, Neil A, Jamal, Fariha, Karaviti, Lefkothea, Lalani, Seema R, Lee, Brendan H, Lewis, Richard A, Marom, Ronit, Moretti, Paolo M, Murdock, David R, Nicholas, Sarah K, Orengo, James P, Posey, Jennifer E, Potocki, Lorraine, Rosenfeld, Jill A, Samson, Susan L, Scott, Daryl A, Tran, Alyssa A, Vogel, Tiphanie P, Wangler, Michael F

المساهمون: Connolly Family Charitable Fund, NIH Common Fund, Office of Strategic Coordination, Office of the NIH Director, CDMRP, NIH-NINDS, Margaret Q. Landenberger Research Foundation, Mass General Hospital Howard M. Goodman Fellowship, NIH-GM, NIH-ORIP, Huffington Foundation

المصدر: Brain ; volume 146, issue 4, page 1420-1435 ; ISSN 0006-8950 1460-2156

الإتاحة: https://doi.org/10.1093/brain/awac460Test
https://academic.oup.com/brain/article-pdf/146/4/1420/50800066/awac460.pdfTest

المؤلفون: Garza Flores, Alexandra, Nordgren, Ida, Pettersson, Maria, Dias-Santagata, Dora, Nilsson, Daniel, Hammarsjö, Anna, Lindstrand, Anna, Batkovskyte, Dominyka, Wiggs, Janey, Walton, David S., Goldenberg, Paula, Eisfeldt, Jesper, Lin, Angela E., Lachman, Ralph S., Gen Nishimura, Grigelioniene, Giedre

المصدر: Frontiers in Genetics; 2023, p01-08, 8p

مصطلحات موضوعية: FORKHEAD transcription factors, JOINT hypermobility, JOINT instability, SHORT stature, SKELETAL abnormalities, SYNDROMES

المؤلفون: Hickey, Chelsea L., Sherman, Janet C., Goldenberg, Paula, Kritzer, Amy, Caruso, Paul, Schmahmann, Jeremy D., Colvin, Mary K.

المصدر: Cerebellum & Ataxias ; volume 5, issue 1 ; ISSN 2053-8871

مصطلحات موضوعية: Neurology (clinical)

الإتاحة: https://doi.org/10.1186/s40673-018-0085-yTest

المؤلفون: Calvert Jr., James F., Goldenberg, Paula C., Schock, Cathy

المصدر: Journal of Rural Health. Win 2005 21(1):74-78.

تمت مراجعته من قبل الزملاء: Y

Page Count: 5

الواصفات: Patients, Physicians, Health Facilities, Diseases, Nurses, Insurance, Health Education, Rural Areas

مصطلحات جغرافية: Oregon

المؤلفون: Saunier, Chloé, Støve, Svein Isungset, Popp, Bernt, Gérard, Bénédicte, Blenski, Marina, Ahmew, Nicholas, de Bie, Charlotte, Goldenberg, Paula, Isidor, Bertrand, Keren, Boris, Leheup, Bruno, Lampert, Laetitia, Mignot, Cyril, Tezcan, Kamer, Mancini, Grazia M.S., Nava, Caroline, Wasserstein, Melissa, Bruel, Ange-Line, Thevenon, Julien, Masurel, Alice, Duffourd, Yannis, Kuentz, Paul, Huet, Frédéric, Rivière, Jean-Baptiste, van Slegtenhorst, Marjon, Faivre, Laurence, Piton, Amélie, Reis, André, Arnesen, Thomas, Thauvin-Robinet, Christel, Zweier, Christiane

المساهمون: Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service de pédiatrie (CHU de Dijon), Department of Molecular Biology, University of Bergen (UiB), Dpt of Surgery Bergen, Haukeland University Hospital, University of Bergen (UiB)-University of Bergen (UiB), Friedrich-Alexander Universität Erlangen-Nürnberg = University of Erlangen-Nuremberg (FAU), Laboratoire de Génétique Moléculaire CHRU Strasbourg, CHRU Strasbourg, Division of Genetics & Metabolism, Children's National Medical Center, Dpt of Genetics Utrecht, University Medical Center Utrecht, Massachusetts General Hospital Boston, Service de génétique médicale - Unité de génétique clinique Nantes, Université de Nantes (UN)-Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Pierre et Marie Curie - Paris 6 (UPMC), Service de Génétique Médicale CHRU Nancy, Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Kaiser Permanente, Erasmus University Medical Center Rotterdam (Erasmus MC), Dpts of Genetics and Genomic Sciences and Pediatrics New York, Icahn School of Medicine at Mount Sinai New York (MSSM), Université de Bourgogne (UB), Génétique des Anomalies du Développement (GAD), Université de Bourgogne (UB)-IFR100 - Structure fédérative de recherche Santé-STIC, Laboratoire de génétique moléculaire (hôpital général, CHU Dijon), Hôpital général (CHU Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon)-Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon)

المصدر: ISSN: 1059-7794.

مصطلحات موضوعية: Contract grant sponsors: Dijon University Hospital, Regional Council of Burgundy, KEY WORDS: NAA10, X-linked, intellectual disability, N-terminal acetylation, [SDV.GEN]Life Sciences [q-bio]/Genetics

العلاقة: hal-01314294; https://hal.sorbonne-universite.fr/hal-01314294Test; https://hal.sorbonne-universite.fr/hal-01314294/documentTest; https://hal.sorbonne-universite.fr/hal-01314294/file/humu23001.pdfTest

الإتاحة: https://doi.org/10.1002/humu.23001Test
https://hal.sorbonne-universite.fr/hal-01314294Test
https://hal.sorbonne-universite.fr/hal-01314294/documentTest
https://hal.sorbonne-universite.fr/hal-01314294/file/humu23001.pdfTest