المؤلفون: Rodrigues, Bárbara, Sousa, Vanessa, Yrigollen, Carolyn, Tassone, Flora, Villate, Olatz, Allen, Emily, Glicksman, Anne, Tortora, Nicole, Nolin, Sarah, Nogueira, António, Jorge, Paula

المصدر: Reproductive Biology and Endocrinology. 22(1)

مصطلحات موضوعية: FMR1 allelic complexity, FMR1 gene premutation, AGG interspersion pattern, Age at amenorrhea, CGG repeats, Fragile X-associated primary ovarian insufficiency, Humans, Female, Fragile X Mental Retardation Protein, Amenorrhea, Alleles, Primary Ovarian Insufficiency, Adult, Heterozygote, Mutation, Fragile X Syndrome, Age Factors, Young Adult, Adolescent

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/1nh5p08wTest
https://escholarship.org/content/qt1nh5p08w/qt1nh5p08w.pdfTest

المؤلفون: Yu, David, Miller, Corey, Feng, Yi, Guichard, Audrey, Béziat, Vivien, Bustamante, Jacinta, Pan-Hammarström, Qiang, Zhang, Yu, Rosen, Lindsey, Holland, Steve, Bosticardo, Marita, Kenney, Heather, Castagnoli, Riccardo, Slade, Charlotte, Boztuğ, Kaan, Mahlaoui, Nizar, Latour, Sylvain, Abraham, Roshini, Lougaris, Vassilios, Hauck, Fabian, Sediva, Anna, Atschekzei, Faranaz, Sogkas, Georgios, Poli, M, Slatter, Mary, Palterer, Boaz, Keller, Michael, Pinzon-Charry, Alberto, Sullivan, Anna, Droney, Luke, Suan, Daniel, Wong, Melanie, Kane, Alisa, Hu, Hannah, Ma, Cindy, Grombiříková, Hana, Ciznar, Peter, Dalal, Ilan, Aladjidi, Nathalie, Hie, Miguel, Lazaro, Estibaliz, Franco, Jose, Keles, Sevgi, Malphettes, Marion, Pasquet, Marlene, Maccari, Maria, Meinhardt, Andrea, Ikinciogullari, Aydan, Shahrooei, Mohammad, Celmeli, Fatih, Frosk, Patrick, Goodnow, Christopher, Gray, Paul, Belot, Alexandre, Kuehn, Hye, Rosenzweig, Sergio, Miyara, Makoto, Licciardi, Francesco, Servettaz, Amélie, Barlogis, Vincent, Le Guenno, Guillaume, Herrmann, Vera-Maria, Kuijpers, Taco, Ducoux, Grégoire, Sarrot-Reynauld, Françoise, Schuetz, Catharina, Cunningham-Rundles, Charlotte, Rieux-Laucat, Frédéric, Tangye, Stuart, Sobacchi, Cristina, Doffinger, Rainer, Warnatz, Klaus, Grimbacher, Bodo, Fieschi, Claire, Berteloot, Laureline, Bryant, Vanessa, Trouillet Assant, Sophie, Su, Helen, Neven, Benedicte, Abel, Laurent, Zhang, Qian, Boisson, Bertrand, Cobat, Aurélie, Jouanguy, Emmanuelle, Kampe, Olle, Bastard, Paul, Roifman, Chaim, Landegren, Nils, Notarangelo, Luigi, Le Voyer, Tom, Parent, Audrey, Liu, Xian, Cederholm, Axel, Gervais, Adrian, Rosain, Jérémie, Nguyen, Tina, Perez Lorenzo, Malena, Rackaityte, Elze, Rinchai, Darawan, Zhang, Peng

المصدر: Nature. 623(7988)

مصطلحات موضوعية: Humans, Autoantibodies, COVID-19, Gain of Function Mutation, Genetic Predisposition to Disease, Heterozygote, I-kappa B Proteins, Interferon Type I, Loss of Function Mutation, NF-kappa B, NF-kappa B p52 Subunit, Pneumonia, Viral, Thymus Gland, Thyroid Epithelial Cells

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6w33j3whTest

المؤلفون: Morra, Anna, Schreurs, Maartje AC, Andrulis, Irene L, Anton‐Culver, Hoda, Augustinsson, Annelie, Beckmann, Matthias W, Behrens, Sabine, Bojesen, Stig E, Bolla, Manjeet K, Brauch, Hiltrud, Broeks, Annegien, Buys, Saundra S, Camp, Nicola J, Castelao, Jose E, Cessna, Melissa H, Chang‐Claude, Jenny, Chung, Wendy K, Sahlberg, Kristine K, Børresen‐Dale, Anne‐Lise, Gram, Inger Torhild, Olsen, Karina Standahl, Engebråten, Olav, Naume, Bjørn, Geisler, Jürgen, OSBREAC, Alnæs, Grethe I Grenaker, Colonna, Sarah V, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Daly, Mary B, Dennis, Joe, Devilee, Peter, Dörk, Thilo, Dunning, Alison M, Dwek, Miriam, Easton, Douglas F, Eccles, Diana M, Eriksson, Mikael, Evans, D Gareth, Fasching, Peter A, Fehm, Tanja N, Figueroa, Jonine D, Flyger, Henrik, Gabrielson, Marike, Gago‐Dominguez, Manuela, García‐Closas, Montserrat, García‐Sáenz, José A, Genkinger, Jeanine, Grassmann, Felix, Gündert, Melanie, Hahnen, Eric, Haiman, Christopher A, Hamann, Ute, Harrington, Patricia A, Hartikainen, Jaana M, Hoppe, Reiner, Hopper, John L, Houlston, Richard S, Howell, Anthony, Clarke, Christine, Marsh, Deborah, Scott, Rodney, Baxter, Robert, Yip, Desmond, Carpenter, Jane, Davis, Alison, Pathmanathan, Nirmala, Simpson, Peter, Graham, J Dinny, Sachchithananthan, Mythily, Amor, David, Andrews, Lesley, Antill, Yoland, Balleine, Rosemary, Beesley, Jonathan, Bennett, Ian, Bogwitz, Michael, Botes, Leon, Brennan, Meagan, Brown, Melissa, Buckley, Michael, Burke, Jo, Butow, Phyllis, Caldon, Liz, Campbell, Ian, Cao, Michelle, Chakrabarti, Anannya, Chauhan, Deepa, Chauhan, Manisha, Chenevix‐Trench, Georgia, Christian, Alice, Cohen, Paul, Colley, Alison, Crook, Ashley, Cui, James, Courtney, Eliza, Cummings, Margaret, Dawson, Sarah‐Jane

المصدر: Cancer Medicine. 12(15)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Clinical Research, Cancer, Prevention, Breast Cancer, Women's Health, Female, Humans, Breast Neoplasms, Checkpoint Kinase 2, Genetic Predisposition to Disease, Germ-Line Mutation, Heterozygote, Proportional Hazards Models, CHEK2 c.1100delC germline genetic variant, contralateral breast cancer risk, radiotherapy, survival, systemic treatment, NBCS Collaborators, ABCTB Investigators, kConFab Investigators, Biochemistry and Cell Biology, Oncology and carcinogenesis

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/4h760910Test
https://escholarship.org/content/qt4h760910/qt4h760910.pdfTest

المؤلفون: Yazheng Wang, Conor Fahy, Hong Lu

المصدر: Liver Research, Vol 8, Iss 2, Pp 91-104 (2024)

مصطلحات موضوعية: Glucocorticoid receptor (GR), Alcohol-associated steatosis (AS), Alcoholic hepatitis (AH), Heterozygote, Liver-specific knockout, Liver-specific knockin, Diseases of the digestive system. Gastroenterology, RC799-869

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2542568424000205Test; https://doaj.org/toc/2542-5684Test

الوصول الحر: https://doaj.org/article/2f4ffd68fe0a463ebdb13b2e1ef5ec6dTest

المؤلفون: Lopera, Francisco, Marino, Claudia, Chandrahas, Anita S, O’Hare, Michael, Villalba-Moreno, Nelson David, Aguillon, David, Baena, Ana, Sanchez, Justin S, Vila-Castelar, Clara, Ramirez Gomez, Liliana, Chmielewska, Natalia, Oliveira, Gabriel M, Littau, Jessica Lisa, Hartmann, Kristin, Park, Kyungeun, Krasemann, Susanne, Glatzel, Markus, Schoemaker, Dorothee, Gonzalez-Buendia, Lucia, Delgado-Tirado, Santiago, Arevalo-Alquichire, Said, Saez-Torres, Kahira L, Amarnani, Dhanesh, Kim, Leo A, Mazzarino, Randall C, Gordon, Harper, Bocanegra, Yamile, Villegas, Andres, Gai, Xiaowu, Bootwalla, Moiz, Ji, Jianling, Shen, Lishuang, Kosik, Kenneth S, Su, Yi, Chen, Yinghua, Schultz, Aaron, Sperling, Reisa A, Johnson, Keith, Reiman, Eric M, Sepulveda-Falla, Diego, Arboleda-Velasquez, Joseph F, Quiroz, Yakeel T

المصدر: Nature Medicine. 29(5)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Health Sciences, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Dementia, Brain Disorders, Neurosciences, Alzheimer's Disease, Acquired Cognitive Impairment, Neurodegenerative, Aging, 2.1 Biological and endogenous factors, Aetiology, Neurological, Animals, Female, Humans, Male, Mice, Alzheimer Disease, Heterozygote, Nerve Tissue Proteins, Signal Transduction, Medical and Health Sciences, Immunology, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/86r5p0g9Test

المؤلفون: Siljestam, Mattias, 1989

المساهمون: Rüffler, Claus, Arnqvist, Göran, Professor, 1961, Kisdi, Eva, Senior University Lecturer

المصدر: Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Science and Technology.

مصطلحات موضوعية: evolutionary dynamics, heterozygote advantage, sexual selection, MHC, adaptive dynamics

وصف الملف: electronic

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-526967Test
https://uu.diva-portal.org/smash/get/diva2:1853158/FULLTEXT01.pdfTest
https://uu.diva-portal.org/smash/get/diva2:1853158/PREVIEW01.jpgTest

المؤلفون: Yuepeng Hu, Jian-Min Chen, Han Zuo, Na Pu, Guofu Zhang, Yichen Duan, Gang Li, Zhihui Tong, Weiqin Li, Baiqiang Li, Qi Yang

المصدر: Lipids in Health and Disease, Vol 23, Iss 1, Pp 1-10 (2024)

مصطلحات موضوعية: Biallelic variants, Compound heterozygote, Disease expression and severity, Familial chylomicronemia syndrome, Genotype/phenotype relationship, Hypertriglyceridemia-induced acute pancreatitis during pregnancy, Nutritional diseases. Deficiency diseases, RC620-627

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1476-511XTest

الوصول الحر: https://doaj.org/article/7eacbf00ac0f4b20924505722c98d8deTest

المؤلفون: Yadav, Siddhartha, Boddicker, Nicholas, Na, Jie, Polley, Eric, Hu, Chunling, Hart, Steven, Gnanaolivu, Rohan, Larson, Nicole, Holtegaard, Susan, Huang, Huaizhi, Dunn, Carolyn, Teras, Lauren, Patel, Alpa, Lacey, James, Neuhausen, Susan, Martinez, Elena, Haiman, Christopher, Chen, Fei, Ruddy, Kathryn, Olson, Janet, John, Esther, Kurian, Allison, Sandler, Dale, OBrien, Katie, Taylor, Jack, Weinberg, Clarice, Zirpoli, Gary, Goldgar, David, Palmer, Julie, Domchek, Susan, Weitzel, Jeffrey, Nathanson, Katherine, Kraft, Peter, Couch, Fergus, Anton-Culver, Hoda, Ziogas, Argyrios

المصدر: Journal of Clinical Oncology. 41(9)

مصطلحات موضوعية: Female, Humans, Ataxia Telangiectasia Mutated Proteins, Black or African American, BRCA1 Protein, BRCA2 Protein, Breast Neoplasms, Checkpoint Kinase 2, Fanconi Anemia Complementation Group N Protein, Genes, BRCA2, Genetic Predisposition to Disease, Germ-Line Mutation, Heterozygote, White

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/83t752zmTest

المؤلفون: Cassin, Jessica, Stamou, Maria I, Keefe, Kimberly W, Sung, Kaitlin, Bojo, Celine, Tonsfeldt, Karen J, Rojas, Rebecca A, Lopes, Vanessa Ferreira, Plummer, Lacey, Salnikov, Kathryn B, Keefe, David L, Ozata, Metin, Genel, Myron, Georgopoulos, Neoklis A, Hall, Janet E, Crowley, William F, Seminara, Stephanie B, Mellon, Pamela L, Balasubramanian, Ravikumar

المصدر: JCI Insight. 8(3)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Research, Genetics, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Adult, Animals, Female, Humans, Mice, Heterozygote, Hypogonadism, Mutation, Phenotype, SOXB1 Transcription Factors, Endocrinology, Neuroendocrine regulation, Neuroscience, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7g70t67pTest

المؤلفون: Yujing Gong, Weijian Zhu, Mianmian Zhu, Dan Chen, Sunke Wu, Sisi Hu, Yi Luo, Yiyi Jiang, Ting Zhu, Dan Wang

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: Stickler syndrome, functional analysis, COL2A1 gene, intron heterozygote variant, type II collagenopathies, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2024.1308737/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/63e3e3f513d44b9d9db7c02a73571ecaTest