المؤلفون: Penzenstadler, B., Johnson, B., Bano, M., Lenberg, P.

المصدر: IEEE Software IEEE Softw. Software, IEEE. 41(4):38-42 Aug, 2024

المؤلفون: de Sainte Agathe, Jean-Madeleine, Pode-Shakked, Ben, Naudion, Sophie, Michaud, Vincent, Arveiler, Benoit, Fergelot, Patricia, Delmas, Jean, Keren, Boris, Poirsier, Céline, Alkuraya, Fowzan, Tabarki, Brahim, Bend, Eric, Davis, Kellie, Bebin, Martina, Thompson, Michelle, Bryant, Emily, Wagner, Matias, Hannibal, Iris, Lenberg, Jerica, Krenn, Martin, Wigby, Kristen, Friedman, Jennifer, Iascone, Maria, Cereda, Anna, Miao, Térence, LeGuern, Eric, Sherr, Elliott, Caluseriu, Oana, Tidwell, Timothy, Bayrak-Toydemir, Pinar, Hagedorn, Caroline, Brugger, Melanie, Vill, Katharina, Morneau-Jacob, Francois-Dominique, Chung, Wendy, Weaver, Kathryn, Owens, Joshua, Husami, Ammar, Chaudhari, Bimal, Stone, Brandon, Burns, Katie, Li, Rachel, de Lange, Iris, Biehler, Margaux, Ginglinger, Emmanuelle, Gérard, Bénédicte, Stottmann, Rolf, Trimouille, Aurélien, Argilli, Emanuela

المصدر: Journal of Medical Genetics. 60(10)

مصطلحات موضوعية: epilepsy, human genetics, sequence analysis, DNA, Humans, Brain, Genotype, Intellectual Disability, Microcephaly, Periventricular Nodular Heterotopia, Phenotype, Seizures

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7j44m3ns

المؤلفون: Torkar, R., Furia, C.A., Feldt, R., de Oliveira Neto, F.G., Gren, L., Lenberg, P., Ernst, N.A.

المصدر: IEEE Transactions on Software Engineering IIEEE Trans. Software Eng. Software Engineering, IEEE Transactions on. 48(6):2053-2065 Jun, 2022

المؤلفون: Maximilian Hirschenberger, Alice Lepelley, Ulrich Rupp, Susanne Klute, Victoria Hunszinger, Lennart Koepke, Veronika Merold, Blaise Didry-Barca, Fanny Wondany, Tim Bergner, Tatiana Moreau, Mathieu P. Rodero, Reinhild Rösler, Sebastian Wiese, Stefano Volpi, Marco Gattorno, Riccardo Papa, Sally-Ann Lynch, Marte G. Haug, Gunnar Houge, Kristen M. Wigby, Jessica Sprague, Jerica Lenberg, Clarissa Read, Paul Walther, Jens Michaelis, Frank Kirchhoff, Carina C. de Oliveira Mann, Yanick J. Crow, Konstantin M. J. Sparrer

المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-20 (2023)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/b099f69003f848078aba66c1696bcd67

المؤلفون: Hirschenberger, Maximilian, Lepelley, Alice, Rupp, Ulrich, Klute, Susanne, Hunszinger, Victoria, Koepke, Lennart, Merold, Veronika, Didry-Barca, Blaise, Wondany, Fanny, Bergner, Tim, Moreau, Tatiana, Rodero, Mathieu P., Rösler, Reinhild, Wiese, Sebastian, Volpi, Stefano^{Aff7, Aff8}, Gattorno, Marco, Papa, Riccardo, Lynch, Sally-Ann^{Aff9, Aff10}, Haug, Marte G., Houge, Gunnar, Wigby, Kristen M.^{Aff13, Aff14}, Sprague, Jessica^{Aff15, Aff16}, Lenberg, Jerica, Read, Clarissa, Walther, Paul, Michaelis, Jens, Kirchhoff, Frank, de Oliveira Mann, Carina C., Crow, Yanick J.^{Aff2, Aff17, IDs41467023421504_cor29}, Sparrer, Konstantin M. J.^{Aff1, IDs41467023421504_cor30}

المصدر: Nature Communications. 14(1)

المؤلفون: Yang, Jennifer H, Friederich, Marisa W, Ellsworth, Katarzyna A, Frederick, Aliya, Foreman, Emily, Malicki, Denise, Dimmock, David, Lenberg, Jerica, Prasad, Chitra, Yu, Andrea C, Rupar, C Anthony, Hegele, Robert A, Manickam, Kandamurugu, Koboldt, Daniel C, Crist, Erin, Choi, Samantha S, Farhan, Sali MK, Harvey, Helen, Sattar, Shifteh, Karp, Natalya, Wong, Terence, Haas, Richard, Van Hove, Johan LK, Wigby, Kristen

المصدر: Human Mutation. 43(3)

مصطلحات موضوعية: Genetics, Pediatric, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Carbon-Sulfur Lyases, Electron Transport Complex I, Humans, Iron, Iron-Sulfur Proteins, Mitochondria, Mitochondrial Proteins, Sulfur, Young Adult, iron-sulfur clusteropathies, lactic acidosis, mitochondrial, NFS1, pediatric, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/68j1p63k

المؤلفون: Jerica Lenberg, Kristen Wigby, Jennifer Friedman, Mari Tokita, Alaina Heinen, Soofia Khan

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101233- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424003790; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/47d272e5653545ce9c854f20a29b87b8

المؤلفون: Lucia Guidugli, Monia Hammer, Bryant Cao, Joseph Shen, Daniel Rito, Claire Botsford, David Chitayat, Jerica Lenberg, Kristen Wigby, Kelly Watkins, Stephen Kingsmore, Mari Tokita

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101516- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424006629; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/764f922ac0f54b0cbf4a567f0073dcda

المؤلفون: Owen, Mallory J, Lefebvre, Sebastien, Hansen, Christian, Kunard, Chris M, Dimmock, David P, Smith, Laurie D, Scharer, Gunter, Mardach, Rebecca, Willis, Mary J, Feigenbaum, Annette, Niemi, Anna-Kaisa, Ding, Yan, Van Der Kraan, Luca, Ellsworth, Katarzyna, Guidugli, Lucia, Lajoie, Bryan R, McPhail, Timothy K, Mehtalia, Shyamal S, Chau, Kevin K, Kwon, Yong H, Zhu, Zhanyang, Batalov, Sergey, Chowdhury, Shimul, Rego, Seema, Perry, James, Speziale, Mark, Nespeca, Mark, Wright, Meredith S, Reese, Martin G, De La Vega, Francisco M, Azure, Joe, Frise, Erwin, Rigby, Charlene Son, White, Sandy, Hobbs, Charlotte A, Gilmer, Sheldon, Knight, Gail, Oriol, Albert, Lenberg, Jerica, Nahas, Shareef A, Perofsky, Kate, Kim, Kyu, Carroll, Jeanne, Coufal, Nicole G, Sanford, Erica, Wigby, Kristen, Weir, Jacqueline, Thomson, Vicki S, Fraser, Louise, Lazare, Seka S, Shin, Yoon H, Grunenwald, Haiying, Lee, Richard, Jones, David, Tran, Duke, Gross, Andrew, Daigle, Patrick, Case, Anne, Lue, Marisa, Richardson, James A, Reynders, John, Defay, Thomas, Hall, Kevin P, Veeraraghavan, Narayanan, Kingsmore, Stephen F

المصدر: Nature Communications. 13(1)

مصطلحات موضوعية: Human Genome, Pediatric, Genetics, Biotechnology, Pediatric Research Initiative, Good Health and Well Being, Child, DNA Copy Number Variations, Humans, Infant, Retrospective Studies, Whole Genome Sequencing

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0sp2m30r

المؤلفون: James, Kiely N, Lau, Megan, Shayan, Katayoon, Lenberg, Jerica, Mardach, Rebecca, Ignacio, Romeo, Halbach, Jonathan, Choi, Lillian, Kumar, Soma, Ellsworth, Katarzyna A

المصدر: Molecular Case Studies. 7(3)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Research, Human Genome, Digestive Diseases, Aetiology, 2.1 Biological and endogenous factors, Actins, Genotype, Humans, Ileus, Infant, Intestinal Pseudo-Obstruction, Male, Pedigree, Treatment Outcome, Whole Genome Sequencing, chronic constipation, hypoperistalsis, ileus, intestinal pseudo-obstruction, Pharmacology and pharmaceutical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1434x2c6