المؤلفون: Rojas, Samantha K., Adam, Shelin, Elliott, Alison M., Zawati, Ma'n H.

المساهمون: Canadian Institutes of Health Research, Genome Canada, Genome British Columbia, Génome Québec, Fonds de Recherche du Québec - Santé

المصدر: Journal of Genetic Counseling ; ISSN 1059-7700 1573-3599

الإتاحة: https://doi.org/10.1002/jgc4.1943Test

المؤلفون: Ravenscroft, Thomas A, Phillips, Jennifer B, Fieg, Elizabeth, Bajikar, Sameer S, Peirce, Judy, Wegner, Jeremy, Luna, Alia A, Fox, Eric J, Yan, Yi-Lin, Rosenfeld, Jill A, Zirin, Jonathan, Kanca, Oguz, Benke, Paul J, Cameron, Eric S, Strehlow, Vincent, Platzer, Konrad, Jamra, Rami Abou, Klöckner, Chiara, Osmond, Matthew, Licata, Thomas, Rojas, Samantha, Dyment, David, Chong, Josephine SC, Lincoln, Sharyn, Stoler, Joan M, Postlethwait, John H, Wangler, Michael F, Yamamoto, Shinya, Krier, Joel, Westerfield, Monte, Bellen, Hugo J

المصدر: Genetics in Medicine. 23(10)

مصطلحات موضوعية: Congenital Structural Anomalies, Genetics, Pediatric, 2.1 Biological and endogenous factors, Detection, screening and diagnosis, 4.1 Discovery and preclinical testing of markers and technologies, Aetiology, Animals, Bone Morphogenetic Proteins, Craniofacial Abnormalities, Growth Differentiation Factors, Humans, Mutation, Missense, Phenotype, Spine, Zebrafish, Undiagnosed Diseases Network, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/1pq530nqTest

المؤلفون: Hartley, Taila, Marshall, Deborah, Acker, Meryl, Fooks, Katharine, Gillespie, Meredith K, Price, E Magda, Graham, Ian D, White-Brown, Alexandre, MacKay, Layla, Macdonald, Stella K, Brady, Lauren, Hui, Angela Y, Andrews, Joseph D, Chowdhury, Ashfia, Wall, Erika, Soubry, Élisabeth, Ediae, Grace U, Rojas, Samantha, Assamad, Daniel, Dyment, David, Tarnopolsky, Mark, Sawyer, Sarah L, Chisholm, Caitlin, Lemire, Gabrielle, Amburgey, Kimberly, Lazier, Joanna, Mendoza-Londono, Roberto, Dowling, James J, Balci, Tugce B, Armour, Christine M, Bhola, Priya T, Costain, Gregory, Dupuis, Lucie, Carter, Melissa, Badalato, Lauren, Richer, Julie, Boswell-Patterson, Christie, Kannu, Peter, Cordeiro, Dawn, Warman-Chardon, Jodi, Graham, Gail, Siu, Victoria Mok, Cytrynbaum, Cheryl, Rusnak, Alison, Aul, Ritu B, Yoon, Grace, Gonorazky, Hernan, McNiven, Vanda, Mercimek-Andrews, Saadet, Guerin, Andrea, Deshwar, Ashish R, Marwaha, Ashish, Weksberg, Rosanna, Karp, Natalya, Campbell, Maggie, Al-Qattan, Sarah, Shuen, Andrew Y, Inbar-Feigenberg, Michal, Cohn, Ronald, Szuto, Anna, Inglese, Cara, Poirier, Myriam, Chad, Lauren, Potter, Beth, Boycott, Kym M, Hayeems, Robin

المصدر: Genet Med ; ISSN:1530-0366 ; Volume:26 ; Issue:2

مصطلحات موضوعية: Clinical validity, Exome sequencing, Health care system, Implementation science, Rare disease

العلاقة: https://doi.org/10.1016/j.gim.2023.101012Test; https://pubmed.ncbi.nlm.nih.gov/37924259Test

الإتاحة: https://doi.org/10.1016/j.gim.2023.101012Test
https://pubmed.ncbi.nlm.nih.gov/37924259Test

المؤلفون: Slim, Rima, Fisher, Rosemary, Milhavet, Florian, Hemida, Reda, Rojas, Samantha, Rittore, Cécile, Bagga, Rashmi, Aguinaga, Monica, Touitou, Isabelle

المساهمون: McGill University = Université McGill Montréal, Canada, Imperial College London, Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Mansoura University Egypt, Panjab University Chandigarh

المصدر: ISSN: 1059-7794.

مصطلحات موضوعية: Infevers, NLRP7, Biallelic variants, Diploid biparental moles, Expert consensus, Recurrent hydatidiform mole, Subcortical maternal complex, MESH: Humans, MESH: Female, MESH: Pregnancy, MESH: Adaptor Proteins, Signal Transducing, MESH: Placenta, MESH: Hydatidiform Mole, MESH: Genotype, MESH: Uterine Neoplasms, [SDV.GEN]Life Sciences [q-bio]/Genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35842788; hal-04453536; https://hal.science/hal-04453536Test; https://hal.science/hal-04453536/documentTest; https://hal.science/hal-04453536/file/Human%20Mutation%20-%202022%20-%20Slim%20-%20Biallelic%20NLRP7%20variants%20in%20patients%20with%20recurrent%20hydatidiform%20mole%20A%20review%20and%20expert.pdfTest; PUBMED: 35842788; WOS: 000829107000001

الإتاحة: https://doi.org/10.1002/humu.24439Test
https://hal.science/hal-04453536Test
https://hal.science/hal-04453536/documentTest
https://hal.science/hal-04453536/file/Human%20Mutation%20-%202022%20-%20Slim%20-%20Biallelic%20NLRP7%20variants%20in%20patients%20with%20recurrent%20hydatidiform%20mole%20A%20review%20and%20expert.pdfTest

المؤلفون: Gauquelin, Laurence, Hartley, Taila, Tarnopolsky, Mark, Dyment, David A., Brais, Bernard, Geraghty, Michael T., Tétreault, Martine, Ahmed, Sohnee, Rojas, Samantha, Choquet, Karine, Majewski, Jacek, Bernier, François, Innes, Allan Micheil, Rouleau, Guy, Suchowersky, Oksana, Boycott, Kym M., Yoon, Grace

المساهمون: Genome Alberta, Genome British Columbia, Génome Québec, Ontario Genomics Institute, Canadian Institutes of Health Research, Genome Canada

المصدر: Movement Disorders Clinical Practice ; volume 7, issue 8, page 940-949 ; ISSN 2330-1619 2330-1619

الإتاحة: https://doi.org/10.1002/mdc3.13086Test

المؤلفون: Singh, Bhajan, Maislin, Greg, Keenan, Brendan T., McArdle, Nigel, Mazzotti, Diego R., Magalang, Ulysses, Pack, Allan I., Schwab, Richard, Lim, Diane C., Veatch, Olivia J., Mazzotti, Diego, Boland, Mary, Pack, Francis, Kim, Jinyoung, Magalang, Ulysses J., Mindel, Jesse, Lyons, M. Melanie, Holfinger, Steven, Rojas, Samantha, Gislason, Thorarinn, BenediktsdLttir, BryndSs, Penzel, Thomas, Sanner, Bernd, Fietze, Ingo, Franczyk, Maria, Laharnar, Naima, Qin, Hua, Han, Fang, Xu, Adele Liyue, Guo, Jing Jing, Li, Qing Yun, Lin, Yingni, Chen, Ning-hung, Chuang, Li-Pang, Lin, Yu-Sheng, Lin, Shih-Wei, Huang, Hung-Yu, Shin, Chol, Lee, Seung Ku, Cistulli, Peter A., deChazal, Philip, Sutherland, Kate, Eastwood, Peter

المصدر: Chest ; volume 157, issue 4, page 1046-1047 ; ISSN 0012-3692

مصطلحات موضوعية: Cardiology and Cardiovascular Medicine, Critical Care and Intensive Care Medicine, Pulmonary and Respiratory Medicine

الإتاحة: https://doi.org/10.1016/j.chest.2019.11.051Test
https://api.elsevier.com/content/article/PII:S0012369220301276?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0012369220301276?httpAccept=text/plainTest

المؤلفون: Kovesi, Thomas, Rojas, Samantha K., Boycott, Kym M.

المصدر: American Journal of Medical Genetics. Part A; Aug2023, Vol. 191 Issue 8, p2188-2192, 5p

المؤلفون: Bend, Renee, Cohen, Lior, Carter, Melissa T., Lyons, Michael J., Niyazov, Dmitriy, Mikati, Mohamad A., Rojas, Samantha K., Person, Richard E., Si, Yue, Wentzensen, Ingrid M., Torti, Erin, Lee, Jennifer A., Boycott, Kym M., Basel-Salmon, Lina, Ferreira, Carlos R., Gonzaga-Jauregui, Claudia

المساهمون: Genome Canada, Gouvernement du Canada | Canadian Institutes of Health Research

المصدر: European Journal of Human Genetics ; volume 28, issue 1, page 76-87 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/s41431-019-0487-1Test
http://www.nature.com/articles/s41431-019-0487-1.pdfTest
http://www.nature.com/articles/s41431-019-0487-1Test

المؤلفون: Mindel, Jesse W, Rojas, Samantha L, Kline, David, Bao, Shengying, Rezai, Ali, Corrigan, John D, Nelson, Randy J, D, Ph, Magalang, Ulysses J

المصدر: Sleep ; volume 42, issue Supplement_1, page A15-A16 ; ISSN 0161-8105 1550-9109

مصطلحات موضوعية: Physiology (medical), Neurology (clinical)

الإتاحة: https://doi.org/10.1093/sleep/zsz067.037Test
http://academic.oup.com/sleep/article-pdf/42/Supplement_1/A15/28384894/zsz067.037.pdfTest

المؤلفون: Espinosa-Herrera, Fernando, Espín, Estefanía, Tito-Álvarez, Ana M., Beltrán, Leonardo-J, Gómez-Correa, Diego, Burgos, German, Llamos, Arianne, Zurita, Camilo, Rojas, Samantha, Dueñas-Espín, Iván, Cueva-Ludeña, Kenny, Salazar-Vega, Jorge, Pinto-Basto, Jorge

المصدر: Gynecological Endocrinology ; volume 36, issue 1, page 24-29 ; ISSN 0951-3590 1473-0766

الإتاحة: https://doi.org/10.1080/09513590.2019.1650342Test