المؤلفون: Orm, Stian, Corbett, Blythe, Fjermestad, Krister, Wood, Jeffrey

المصدر: Journal of Pediatric Psychology. 48(10)

مصطلحات موضوعية: anxiety, autism, depression, rare disorders, suicidality, Male, Female, Child, Adolescent, Humans, Suicidal Ideation, Mental Health, Autistic Disorder, Anxiety, Risk-Taking

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6g98g3x2Test

المؤلفون: Anna M. Kerr, Christine Bereitschaft, Bryan Sisk

المصدر: Journal of Family Medicine and Primary Care, Vol 13, Iss 5, Pp 2116-2122 (2024)

مصطلحات موضوعية: care coordination, primary care, rare disorders, vascular anomalies, Medicine

وصف الملف: electronic resource

العلاقة: https://journals.lww.com/10.4103/jfmpc.jfmpc_1556_23Test; https://doaj.org/toc/2249-4863Test; https://doaj.org/toc/2278-7135Test

الوصول الحر: https://doaj.org/article/1c92ccaec179451eb2b3b8339165a058Test

المؤلفون: Agnieszka Śmieszek, Klaudia Marcinkowska, Zofia Małas, Mateusz Sikora, Martyna Kępska, Beata A. Nowakowska, Marta Deperas, Marta Smyk, Carlos Rodriguez-Galindo, Anna Raciborska

المصدر: BMC Cancer, Vol 24, Iss 1, Pp 1-23 (2024)

مصطلحات موضوعية: Histiocytoses, Langerhans cell histiocytosis, Rare disorders, Cell lines, In vitro study, Cellular model, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1471-2407Test

الوصول الحر: https://doaj.org/article/3f63d3dff8ab47c3833118b32a172bd0Test

المؤلفون: McConkie‐Rosell, Allyn, Schoch, Kelly, Sullivan, Jennifer, Spillmann, Rebecca C, Cope, Heidi, Tan, Queenie K‐G, Palmer, Christina GS, Hooper, Stephen R, Shashi, Vandana, Acosta, Maria T, Adam, Margaret, Adams, David R, Agrawal, Pankaj B, Alejandro, Mercedes E, Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak‐Toydemir, Pinar, Beck, Anita, Beggs, Alan H, Behrens, Edward, Bejerano, Gill, Bennet, Jimmy, Berg‐Rood, Beverly, Bernstein, Jonathan A, Berry, Gerard T, Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonnenmann, Carsten, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C, Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A, Burrage, Lindsay C, Butte, Manish J, Byers, Peter, Byrd, William E, Carey, John, Carrasquillo, Olveen, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao‐Tuan, Clark, Gary D, Coakley, Terra R, Cobban, Laurel A, Cogan, Joy D, Coggins, Matthew, Sessions Cole, F, Colley, Heather A, Cooper, Cynthia M, Craigen, William J, Crouse, Andrew B, Cunningham, Michael, D'Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davids, Mariska, Dayal, Jyoti G, Deardorff, Matthew, Dell'Angelica, Esteban C, Dhar, Shweta U, Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Douine, Emilie D, Draper, David D, Duncan, Laura, Earl, Dawn, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Esteves, Cecilia, Estwick, Tyra, Falk, Marni, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L, Findley, Laurie C, Fisher, Paul G, Fogel, Brent L, Forghani, Irman, Fresard, Laure, Gahl, William A, Glass, Ian, Godfrey, Rena A

المصدر: Journal of Genetic Counseling. 31(1)

مصطلحات موضوعية: Pediatric, Biotechnology, Human Genome, Clinical Research, Genetics, Good Health and Well Being, Child, Delivery of Health Care, Family, Genomics, Humans, Parents, Exome Sequencing, exome and genomic sequencing, undiagnosed disorders, healthcare empowerment, genetic counseling, parental perspectives, rare disorders, Undiagnosed Disease Network, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/76z1t0c4Test

المؤلفون: Wigdor, Emilie

المساهمون: Martin, Hilary

مصطلحات موضوعية: cis-regulatory variants, common genetic variation, complex traits, eQTL, genetics, incomplete penetrance, modified penetrance, polygenic scores, rare disease, rare disorders, RNA-sequencing, spliceosome, splicing, TWAS

الوصول الحر: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.871663Test

المؤلفون: Leire Solis, Samya Van Coillie, James R. Bonham, Fabian Hauck, Lennart Hammarström, Frank J. T. Staal, Bruce Lim, Martine Pergent, Johan Prévot

المصدر: International Journal of Neonatal Screening, Vol 10, Iss 2, p 30 (2024)

مصطلحات موضوعية: newborn screening, population screening, severe combined immunodeficiency (SCID), rare disorders, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2409-515X/10/2/30Test; https://doaj.org/toc/2409-515XTest

الوصول الحر: https://doaj.org/article/fa56b81f5cb84ed99bb72cf9a5e005c1Test

المؤلفون: Stefania Zampatti, Cristina Peconi, Domenica Megalizzi, Giulia Calvino, Giulia Trastulli, Raffaella Cascella, Claudia Strafella, Carlo Caltagirone, Emiliano Giardina

المصدر: Genes, Vol 15, Iss 4, p 421 (2024)

مصطلحات موضوعية: artificial intelligence, ChatGPT, rare disorders, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/15/4/421Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/960262c2c84d45e9802c98c81c802416Test

المؤلفون: Birute Tumiene, Harm Peters, Bela Melegh, Borut Peterlin, Algirdas Utkus, Natalja Fatkulina, György Pfliegler, Holm Graessner, Sanja Hermanns, Maurizio Scarpa, Jean-Yves Blay, Sharon Ashton, Lucy McKay, Gareth Baynam

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-20 (2022)

مصطلحات موضوعية: People living with rare disorders, Rare disease awareness, Medical education and training, Patient empowerment, Interprofessional learning, Highly-specialized knowledge, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/6407632929da40bb8a36b39315418770Test

المؤلفون: Saeed Anwar, Toshifumi Yokota

المصدر: Genes, Vol 14, Iss 12, p 2162 (2023)

مصطلحات موضوعية: fibrodysplasia ossificans progressiva (FOP), ultra-rare disorders, heterotopic ossification, bone morphogenetic proteins (BMPs), ACVR1, targeted therapy, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/14/12/2162Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/c8aa6086c0fb46848172336c1a1e85aeTest

المؤلفون: Ekaterina Lyulcheva-Bennett, Genomics England Research Consortium, Daimark Bennett

المصدر: Frontiers in Cell and Developmental Biology, Vol 11 (2023)

مصطلحات موضوعية: phosphatase, phosphatome, disease genes, de novo mutation, genome sequencing, rare disorders, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fcell.2023.1107930/fullTest; https://doaj.org/toc/2296-634XTest

الوصول الحر: https://doaj.org/article/998baeef1cf44b6399565cd11ca47dffTest