المؤلفون: Sara Carvalhal, Bruno Carmona, Anne-Marie Tassin, João Gonçalves

المصدر: Frontiers in Molecular Biosciences, Vol 11 (2024)

مصطلحات موضوعية: cilium, ciliopathies, molecular mechanisms of disease, rare genetic diseases, organelle, cytoskeleton, signalling, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fmolb.2024.1421419/fullTest; https://doaj.org/toc/2296-889XTest

الوصول الحر: https://doaj.org/article/eff0fb01206d455baf45d40d31d13045Test

المؤلفون: Oksana Kutsa, Sara M. Andrews, Erin Mallonee, Angela Gwaltney, Alissa Creamer, Paul K. J. Han, Melissa Raspa, Barbara B. Biesecker

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-13 (2022)

مصطلحات موضوعية: Severe combined immunodeficiency, Coping with uncertainties, Adaptation, Rare genetic diseases, Medicine

وصف الملف: electronic resource

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

الوصول الحر: https://doaj.org/article/2cd48ce294244d43ac7dbdd46c39caeaTest

المؤلفون: Jan Domaradzki

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)

مصطلحات موضوعية: Rare genetic diseases, Cinema, Popular movies, Science and movies, Science education, Medicine

وصف الملف: electronic resource

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

الوصول الحر: https://doaj.org/article/89f54eda35d04c48bc33a5ab82c1f926Test

المؤلفون: Peter Kühnen, Martin Wabitsch, Julia von Schnurbein, Costel Chirila, Usha G. Mallya, Patrick Callahan, Ari Gnanasakthy, Christine Poitou, Philipp M. Krabusch, Murray Stewart, Karine Clément

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-11 (2022)

مصطلحات موضوعية: Hyperphagia, IWQOL-Lite, PedsQL, PHQ-9, Rare genetic diseases of obesity, Disease burden, Medicine

وصف الملف: electronic resource

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

الوصول الحر: https://doaj.org/article/4c5949b639f04cd3b88c6a643bb6e70eTest

المؤلفون: Vanessa S. Fear, Catherine A. Forbes, Denise Anderson, Sebastian Rauschert, Genevieve Syn, Nicole Shaw, Sarra Jamieson, Michelle Ward, Gareth Baynam, Timo Lassmann

المصدر: Stem Cell Research & Therapy, Vol 13, Iss 1, Pp 1-15 (2022)

مصطلحات موضوعية: Rare genetic diseases, Translational genetics, Kleefstra syndrome, CRISPR SNV editing, Variant of uncertain significance, Inducible pluripotent stem cells, Medicine (General), R5-920, Biochemistry, QD415-436

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1757-6512Test

الوصول الحر: https://doaj.org/article/abeada057df24630a66a292be29cabefTest

المؤلفون: Rajech Sharkia, Sahil Jain, Muhammad Mahajnah, Clair Habib, Abdussalam Azem, Wasif Al-Shareef, Abdelnaser Zalan

المصدر: Genes; Volume 14; Issue 5; Pages: 1031

مصطلحات موضوعية: autosomal recessive disorder, bioinformatics analysis, clinical features, IMNEPD, PTRH2 gene, PTRH2 variants, rare genetic diseases

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes14051031Test

الإتاحة: https://doi.org/10.3390/genes14051031Test

المؤلفون: Alkhawaldeh, Aseel, Alsayed, Ahmad R., Daghash, Rajaa, Albaramiki, Jumana, Shibli, Dana, Abudahab, Sara, Hakooz, Nancy

المصدر: Pharmacy Practice (Granada), ISSN 1886-3655, Vol. 22, Nº. 1, 2024 (Ejemplar dedicado a: Jan-Mar)

مصطلحات موضوعية: 3-m syndrome, rare genetic diseases, autosomal recessive disease, genetics, Jordan

وصف الملف: application/pdf

العلاقة: https://dialnet.unirioja.es/servlet/oaiart?codigo=9414142Test; (Revista) ISSN 1886-3655

الإتاحة: https://dialnet.unirioja.es/servlet/oaiart?codigo=9414142Test

المؤلفون: Kühnen, Peter, Wabitsch, Martin, von Schnurbein, Julia, Chirila, Costel, Mallya, Usha, G, Callahan, Patrick, Gnanasakthy, Ari, Poitou, Christine, Krabusch, Philipp, M, Stewart, Murray, Clément, Karine

المساهمون: Charité - UniversitätsMedizin = Charité - University Hospital Berlin, University of Ulm (UUlm), RTI Health Solutions, Research Triangle Institute International (RTI International), Genesis Research and Development Corporation Limited, CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Nutrition et obésités: approches systémiques (UMR-S 1269) (Nutriomics), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)

المصدر: ISSN: 1750-1172 ; Orphanet Journal of Rare Diseases ; https://hal.sorbonne-universite.fr/hal-03561459Test ; Orphanet Journal of Rare Diseases, 2022, 17 (1), pp.38. ⟨10.1186/s13023-022-02186-z⟩.

مصطلحات موضوعية: Disease burden, Hyperphagia, IWQOL-Lite, Melanocortin receptor, PHQ-9, PedsQL, Rare genetic diseases of obesity, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35123544; hal-03561459; https://hal.sorbonne-universite.fr/hal-03561459Test; https://hal.sorbonne-universite.fr/hal-03561459/documentTest; https://hal.sorbonne-universite.fr/hal-03561459/file/s13023-022-02186-z.pdfTest; PUBMED: 35123544

الإتاحة: https://doi.org/10.1186/s13023-022-02186-zTest
https://hal.sorbonne-universite.fr/hal-03561459Test
https://hal.sorbonne-universite.fr/hal-03561459/documentTest
https://hal.sorbonne-universite.fr/hal-03561459/file/s13023-022-02186-z.pdfTest

المؤلفون: Agnieszka Trawicka, Aleksandra Lewandowska-Walter, Mikołaj Majkowicz, Robert Sabiniewicz, Lidia Woźniak-Mielczarek

المصدر: International Journal of Environmental Research and Public Health; Volume 19; Issue 11; Pages: 6827

مصطلحات موضوعية: Marfan syndrome, quality of life, rare genetic diseases, health-related quality of life, aortic aneurysm

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Global Health; https://dx.doi.org/10.3390/ijerph19116827Test

الإتاحة: https://doi.org/10.3390/ijerph19116827Test

المؤلفون: Francisco M. De La Vega (11561014), Shimul Chowdhury (232293), Barry Moore (30923), Erwin Frise (1477), Jeanette McCarthy (11561017), Edgar Javier Hernandez (11561020), Terence Wong (8982176), Kiely James (11561023), Lucia Guidugli (547067), Pankaj B. Agrawal (11090285), Casie A. Genetti (11090270), Catherine A. Brownstein (11090273), Alan H. Beggs (142493), Britt-Sabina Löscher (11561026), Andre Franke (77511), Braden Boone (41619), Shawn E. Levy (11561029), Katrin Õunap (5700383), Sander Pajusalu (9989388), Matt Huentelman (625659), Keri Ramsey (271046), Marcus Naymik (10698663), Vinodh Narayanan (72819), Narayanan Veeraraghavan (13928), Paul Billings (11561032), Martin G. Reese (11561035), Mark Yandell (61663), Stephen F. Kingsmore (8397318)

مصطلحات موضوعية: Genetics, whether sv calls, mostly nicu infants, inferred ab initio, rare genetic diseases, including structural variants, speed genome interpretation, expediting genome interpretation, results gem ranked, potentially decreasing cost, integrating predictive methods, derived phenotype descriptions, causal genes among, 60 cases collected, genetic disease diagnosis, expediting case review, genetic variants, genetic disease, one case, causal svs, candidate genes, gem identified, fabric gem, benchmarked gem, wes ), two means, time expenditure, svs ), singleton cases, short list

العلاقة: https://figshare.com/articles/journal_contribution/Additional_file_2_of_Artificial_intelligence_enables_comprehensive_genome_interpretation_and_nomination_of_candidate_diagnoses_for_rare_genetic_diseases/16807846Test

الإتاحة: https://doi.org/10.6084/m9.figshare.16807846.v1Test