المؤلفون: McCarty, T. P., Cumagun, P., Meeder, J., Moates, D., Edwards, W. S., Hutchinson, J., Lee, R. A., Leal, S. M.

المساهمون: Pride, David T., GenMark Dx

المصدر: Microbiology Spectrum ; volume 11, issue 1 ; ISSN 2165-0497

الإتاحة: https://doi.org/10.1128/spectrum.04092-22Test

المؤلفون: Bharadwaj, T. (Thashi), Schrauwen, I. (Isabelle), Acharya, A. (Anushree), Nouel-Saied, L. M. (Liz M.), Väisänen, M.-L. (Marja-Leena), Kraatari, M. (Minna), Rahikkala, E. (Elisa), Järvelä, I. (Irma), Kotimäki, J. (Jouko), Leal, S. M. (Suzanne M.)

مصطلحات موضوعية: CABP2, autosomal recessive, hearing impairment

وصف الملف: application/pdf

الإتاحة: http://urn.fi/urn:nbn:fi-fe2022090957966Test

المؤلفون: Järvelä, I. (Irma), Määttä, T. (Tuomo), Acharya, A. (Anushree), Leppälä, J. (Juha), Jhangiani, S. N. (Shalini N.), Arvio, M. (Maria), Siren, A. (Auli), Kankuri-Tammilehto, M. (Minna), Kokkonen, H. (Hannaleena), Palomäki, M. (Maarit), Varilo, T. (Teppo), Fang, M. (Mary), Hadley, T. D. (Trevor D), Jolly, A. (Angad), Linnankivi, T. (Tarja), Paetau, R. (Ritva), Saarela, A. (Anni), Kälviäinen, R. (Reetta), Olme, J. (Jan), Nouel-Saied, L. M. (Liz M.), Cornejo-Sanchez, D. M. (Diana M.), Llaci, L. (Lorida), Lupski, J. R. (James R.), Posey, J. E. (Jennifer E.), Leal, S. M. (Suzanne M.), Schrauwen, I. (Isabelle)

وصف الملف: application/pdf

الإتاحة: http://urn.fi/urn:nbn:fi-fe2021090845545Test

المؤلفون: Yap Z. Y., Efthymiou S., Seiffert S., Vargas Parra K., Lee S., Nasca A., Maroofian R., Schrauwen I., Pendziwiat M., Jung S., Bhoj E., Striano P., Mankad K., Vona B., Cuddapah S., Wagner A., Alvi J. R., Davoudi-Dehaghani E., Fallah M. -S., Gannavarapu S., Lamperti C., Legati A., Murtaza B. N., Nadeem M. S., Rehman M. U., Saeidi K., Salpietro V., von Spiczak S., Sandoval A., Zeinali S., Zeviani M., Reich A., Jang C., Helbig I., Barakat T. S., Ghezzi D., Leal S. M., Weber Y., Houlden H., Yoon W. H.

المساهمون: Z.Y. Yap, S. Efthymiou, S. Seiffert, K. Vargas Parra, S. Lee, A. Nasca, R. Maroofian, I. Schrauwen, M. Pendziwiat, S. Jung, E. Bhoj, P. Striano, K. Mankad, B. Vona, S. Cuddapah, A. Wagner, J.R. Alvi, E. Davoudi-Dehaghani, M.-. Fallah, S. Gannavarapu, C. Lamperti, A. Legati, B.N. Murtaza, M.S. Nadeem, M.U. Rehman, K. Saeidi, V. Salpietro, S. von Spiczak, A. Sandoval, S. Zeinali, M. Zeviani, A. Reich, C. Jang, I. Helbig, T.S. Barakat, D. Ghezzi, S.M. Leal, Y. Weber, H. Houlden, W.H. Yoon

مصطلحات موضوعية: bi-allelic, CRISPR-Cas9 gene editing, DEE, developmental and epileptic encephalopathy, Drosophila, exome sequencing, mitochondria, neurodevelopmental disease, OGDHL, α-ketoglutarate, Allele, Animal, Ataxia, Cells, Cultured, Child, Cohort Studie, DNA Mutational Analysi, Drosophila melanogaster, Epilepsy, Family Health, Female, Fibroblast, Hearing Lo, Human, Ketoglutarate Dehydrogenase Complex, Male, Neurodevelopmental Disorder, RNA Splicing, Vision Disorder

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34800363; info:eu-repo/semantics/altIdentifier/wos/WOS:000727739200014; volume:108; issue:12; firstpage:2368; lastpage:2384; numberofpages:17; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2434/902716Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85119926209

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.11.003Test
http://hdl.handle.net/2434/902716Test

المؤلفون: Hirsch, S. D., Elling, C. L., Bootpetch, T. C., Scholes, M. A., Hafrén, L., Streubel, S. -O, Pine, H. S., Wine, T. M., Szeremeta, W., Prager, J. D., Einarsdottir, Elisabet, Yousaf, A., Baschal, E. E., Rehman, S., Bamshad, M. J., Nickerson, D. A., Riazuddin, S., Leal, S. M., Ahmed, Z. M., Yoon, P. J., Kere, J., Chan, K. H., Mattila, P. S., Friedman, N. R., Chonmaitree, T., Frank, D. N., Ryan, A. F., Santos-Cortez, R. L. P.

المصدر: Journal of Molecular Medicine. 99(11):1571-1583

مصطلحات موضوعية: CDHR3, Expression, Microbiome, Middle ear, Otitis media, rs6967330, antibiotic agent, messenger RNA, RNA 16S, cadherin related protein, CDHR3 protein, human, membrane protein, transcriptome, acute otitis media, airway epithelium cell, allergic rhinitis, Article, bacterial microbiome, Caucasian, cdhr3 gene, child, cohort analysis, Colorado, differential expression analysis, DNA sequencing, ear tissue, ethnicity, exome, female, Finland, gene, gene frequency, gene function, gene identification, gene linkage disequilibrium, genetic susceptibility, genetic variability, genotype, Hispanic, human tissue, loss of function mutation, Lysobacter, major clinical study, male, Minnesota, nasopharynx, nontypeable Haemophilus influenzae, otoscopy, Pakistani, pathogenesis, population abundance, preschool child, recurrent disease, RNA sequencing, Sanger sequencing, single cell RNA seq, single nucleotide polymorphism, Streptomyces, Texas, tympanometry, whole exome sequencing, animal, C57BL mouse, genetic predisposition, genetics, infant, microbiology, microflora, mutation, Animals, Cadherin Related Proteins, Child, Preschool, Genetic Predisposition to Disease, Humans, Membrane Proteins, Mice, Inbred C57BL, Microbiota, RNA, Ribosomal, 16S

وصف الملف: print

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-310703Test

المؤلفون: Bharadwaj, T., Schrauwen, I., Acharya, A., Nouel-Saied, L. M., Väisänen, M.-L., Kraatari, M., Rahikkala, E., Järvelä, I., Kotimäki, J., Leal, S. M.

مصطلحات موضوعية: CABP2, autosomal recessive, hearing impairment, edu, demo

العلاقة: http://urn.fi/urn:nbn:fi-fe2022090957966Test

الإتاحة: http://urn.fi/urn:nbn:fi-fe2022090957966Test

المؤلفون: Robin, F, Leal, S M C, Zocche, D A D A, Andrade, G, Frantz, N

المصدر: Human Reproduction ; volume 37, issue Supplement_1 ; ISSN 0268-1161 1460-2350

مصطلحات موضوعية: Obstetrics and Gynecology, Rehabilitation, Reproductive Medicine

الإتاحة: https://doi.org/10.1093/humrep/deac104.125Test
https://academic.oup.com/humrep/article-pdf/37/Supplement_1/deac104.125/44305773/deac104.125.pdfTest

المؤلفون: van 't Hof, F. N., Ruigrok, Y. M., Lee, C. H., Ripke, S., Anderson, G., de Andrade, M., Baas, A. F., Blankensteijn, J. D., Böttinger, E. P., Bown, M. J., Broderick, J., Bijlenga, P., Carrell, D. S., Crawford, D. C., Crosslin, D. R., Ebeling, C., Eriksson, J. G., Fornage, M., Foroud, T., von Und Zu Fraunberg, M., Friedrich, C. M., Gaál, E. I., Gottesman, O., Guo, D. C., Harrison, S. C., Hernesniemi, J., Hofman, A., Inoue, I., Jääskeläinen, J. E., Jones, G. T., Kiemeney, L. A., Kivisaari, R., Ko, N., Koskinen, S., Kubo, M., Kullo, I. J., Kuivaniemi, H., Kurki, M. I., Laakso, A., Lai, D., Leal, S. M., Lehto, H., LeMaire, S. A., Low, S. K., Malinowski, J., McCarty, C. A., Milewicz, D. M., Mosley, T. H., Nakamura, Y., Nakaoka, H., Niemelä, M., Pacheco, J., Peissig, P. L., Pera, J., Rasmussen-Torvik, L., Ritchie, M. D., Rivadeneira, F., van Rij, A. M., Santos-Cortez, R. L., Saratzis, A., Slowik, A., Takahashi, A., Tromp, G., Uitterlinden, A. G., Verma, S. S., Vermeulen, S. H., Wang, G. T., Aneurysm Consortium, Vascular Research Consortium of New Zealand, Han, B., Rinkel, G. J., de Bakker, P. I.

مصطلحات موضوعية: abdominal aortic aneurysm, genome wide association study, intracranial aneurysm, thoracic aortic aneurysm

العلاقة: http://www.ncbi.nlm.nih.gov/pubmed/27418160Test; Journal of the American Heart Association, 2016, 5 (7); http://jaha.ahajournals.org/content/5/7/e002603Test; http://hdl.handle.net/2381/38413Test; JAHA.115.002603

الإتاحة: https://doi.org/10.1161/JAHA.115.002603Test
http://jaha.ahajournals.org/content/5/7/e002603Test
http://hdl.handle.net/2381/38413Test

المؤلفون: Weerts, M. J. A., Lanko, K., Guzmán-Vega, F. J., Jackson, A., Ramakrishnan, R., Cardona-Londoño, K. J., Peña-Guerra, K. A., van Bever, Y., van Paassen, B. W., Kievit, A., van Slegtenhorst, M., Allen, N. M., Kehoe, C. M., Robinson, H. K., Pang, L., Banu, S. H., Zaman, M., Efthymiou, S., Houlden, H., Järvelä, I., Lauronen, L., Määttä, T., Schrauwen, I., Leal, S. M., Ruivenkamp, C. A. L., Barge-Schaapveld, Dqcm, Peeters-Scholte, Cmpcd, Galehdari, H., Mazaheri, N., Sisodiya, S. M., Harrison, V., Sun, A., Thies, J., Pedroza, L. A., Lara-Taranchenko, Y., Chinn, I. K., Lupski, J. R., Garza-Flores, A., McGlothlin, J., Yang, L., Huang, S., Wang, X., Jewett, T., Rosso, G., Lin, X., Mohammed, S., Merritt, J. L., 2nd, Mirzaa, G. M., Timms, A. E., Scheck, J., Elting, M. W., Polstra, A. M., Schenck, L., Ruzhnikov, M. R. Z., Vetro, A., Montomoli, M., Guerrini, R., Koboldt, D. C., Mosher, T. M., Pastore, M. T., McBride, K. L., Peng, J., Pan, Z., Willemsen, M., Koning, S., Turnpenny, P. D., de Vries, B. B. A., Gilissen, C., Pfundt, R., Lees, M., Braddock, S. R., Klemp, K. C., Vansenne, F., van Gijn, M. E., Quindipan, C., Deardorff, M. A., Hamm, J. A., Putnam, A. M., Baud, R., Walsh, L., Lynch, S. A., Baptista, J., Person, R. E., Monaghan, K. G., Crunk, A., Keller-Ramey, J., Reich, A., Elloumi, H. Z., Alders, M., Kerkhof, J., McConkey, H., Haghshenas, S., Maroofian, R., Sadikovic, B., Banka, S., Arold, S. T., Barakat, T. S.

العلاقة: https://doi.org/10.1038/s41436-021-01246-2Test; Genet Med. 2021 Aug 3. doi:10.1038/s41436-021-01246-2.; https://rde.dspace-express.com/handle/11287/622159Test; Genetics in medicine

الإتاحة: https://doi.org/10.1038/s41436-021-01246-2Test
https://rde.dspace-express.com/handle/11287/622159Test

المؤلفون: Leal, S. M., Rodino, K. G., Fowler, W. C., Gilligan, P. H.

المصدر: Osteopathic Medicine, Jerry M. Wallace School of

مصطلحات موضوعية: Ophthalmology

العلاقة: https://cufind.campbell.edu/medicine_school/2370Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8262805Test/

الإتاحة: https://doi.org/10.1128/cmr.00070-19Test
https://cufind.campbell.edu/medicine_school/2370Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8262805Test/