المؤلفون: Sadhwani, Anjali, Powers, Sonya, Wheeler, Anne, Miller, Hillary, Potter, Sarah, Peters, Sarika, Bacino, Carlos, Skinner, Steven, Wink, Logan, Erickson, Craig, Bird, Lynne, Tan, Wen-Hann

المصدر: Journal of Neurodevelopmental Disorders. 16(1)

مصطلحات موضوعية: Activities of Daily Living, Child development, Developmental disabilities, Intellectual disability, Humans, Angelman Syndrome, Activities of Daily Living, Female, Child, Preschool, Male, Child, Adolescent, Infant, Child Development, Longitudinal Studies, Motor Skills, Developmental Disabilities, Adult, Young Adult

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6kx2m2sm
https://escholarship.org/content/qt6kx2m2sm/qt6kx2m2sm.pdf

المؤلفون: Tjeertes, Jorrit, Bacino, Carlos, Bichell, Terry, Bustamante, Mariana, Crean, Rebecca, Jeste, Shafali, Komorowski, Robert, Krishnan, Michelle, Miller, Meghan, Nobbs, David, Ochoa-Lubinoff, Cesar, Parkerson, Kimberly, Rotenberg, Alexander, Sadhwani, Anjali, Shen, Mark, Squassante, Lisa, Tan, Wen-Hann, Vincenzi, Brenda, Wheeler, Anne, Hipp, Joerg, Berry-Kravis, Elizabeth, Bird, Lynne

المصدر: Journal of Neurodevelopmental Disorders. 15(1)

مصطلحات موضوعية: Angelman syndrome, Clinical outcome assessments, Clinical trials, Digital health technology, EEG, Endpoint development, Natural history, Sleep, UBE3A, Humans, Angelman Syndrome, Prospective Studies, Pandemics, COVID-19, Electroencephalography

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/87h5h3rb
https://escholarship.org/content/qt87h5h3rb/qt87h5h3rb.pdf

المؤلفون: Sy, Mary, Chauhan, Jaynee, Prescott, Katrina, Imam, Aliza, Kraus, Alison, Beleza, Ana, Salkeld, Lee, Hosdurga, Saraswati, Parker, Michael, Vasudevan, Pradeep, Islam, Lily, Goel, Himanshu, Bain, Nicole, Park, Soo-Mi, Mohammed, Shehla, Dieterich, Klaus, Coutton, Charles, Satre, Véronique, Vieville, Gaëlle, Donaldson, Alan, Beneteau, Claire, Ghoumid, Jamal, Van Den Bogaert, Kris, Boogaerts, Anneleen, Boudry, Elise, Vanlerberghe, Clémence, Petit, Florence, Bernardini, Laura, Torres, Barbara, Mattina, Teresa, Carli, Diana, Mandrile, Giorgia, Pinelli, Michele, Brunetti-Pierri, Nicola, Neas, Katherine, Beddow, Rachel, Tørring, Pernille, Faletra, Flavio, Spedicati, Beatrice, Gasparini, Paolo, Mussa, Alessandro, Ferrero, Giovanni, Lampe, Anne, Lam, Wayne, Bi, Weimin, Bacino, Carlos, Kuwahara, Akela, Zhao, Xiaonan, Luna, Pamela, Shaw, Chad, Rosenfeld, Jill, Scott, Daryl, Bush, Jeffrey

المصدر: American Journal of Medical Genetics Part A. 188(12)

مصطلحات موضوعية: Fanconi anemia, NRXN1, TCF4, esophageal atresia, exome sequencing, tracheoesophageal fistula, Humans, Tracheoesophageal Fistula, Esophageal Atresia, Exome, Exome Sequencing

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4776v05t

المؤلفون: Bainbridge, Matthew N, Mazumder, Aloran, Ogasawara, Daisuke, Jamra, Rami Abou, Bernard, Geneviève, Bertini, Enrico, Burglen, Lydie, Cope, Heidi, Crawford, Ali, Derksen, Alexa, Dure, Leon, Gantz, Emily, Koch-Hogrebe, Margarete, Hurst, Anna CE, Mahida, Sonal, Marshall, Paige, Micalizzi, Alessia, Novelli, Antonio, Peng, Hongfan, Medicine, Rady Children's Institute for Genomic, Rodriguez, Diana, Robbins, Shira L, Rutledge, S Lane, Scalise, Roberta, Schließke, Sophia, Shashi, Vandana, Srivastava, Siddharth, Thiffault, Isabella, Topol, Sarah, Acosta, Maria T, Adam, Margaret, Adams, David R, Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H, Behrens, Edward, Bejerano, Gill, Bennet, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A, Berry, Gerard T, Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C, Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A, Burrage, Lindsay C, Butte, Manish J, Byers, Peter, Byrd, William E, Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D, Coakley, Terra R, Cobban, Laurel A, Cogan, Joy D, Coggins, Matthew, Cole, F Sessions, Colley, Heather A, Cooper, Cynthia M, Craigen, William J, Crouse, Andrew B, Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G, Deardorff, Matthew, Dell’Angelica, Esteban C, Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L, Douine, Emilie D, Duncan, Laura, Earl, Dawn

المصدر: Brain. 145(10)

مصطلحات موضوعية: Biotechnology, Brain Disorders, Genetics, Neurosciences, Clinical Research, Rare Diseases, Eye Disease and Disorders of Vision, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Neurological, Humans, Child, Endocannabinoids, Phenotype, Nervous System Diseases, Heterozygote, Syndrome, Mutant Proteins, endocannabinoid, episodic ataxia, paroxysmal tonic upgaze, nystagmus, developmental delay, Rady Children's Institute for Genomic Medicine, Undiagnosed Disease Network, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1tp7967m

المؤلفون: Shankar, Suma P, Grimsrud, Kristin, Lanoue, Louise, Egense, Alena, Willis, Brandon, Hörberg, Johanna, AlAbdi, Mayer, Klaus, Ütkür, Koray, Monaghan, Kristin G, Krier, Joel, Stoler, Joan, Alnemer, Maha, Shankar, Prabhu R, Schaffrath, Raffael, Alkuraya, Fowzan S, Brinkmann, Ulrich, Eriksson, Leif A, Lloyd, Kent, Rauen, Katherine A, Network, Undiagnosed Diseases, Acosta, Maria T, Adam, Margaret, Adams, David R, Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H, Behrens, Edward, Bejerano, Gill, Bennet, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A, Berry, Gerard T, Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C, Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A, Burrage, Lindsay C, Butte, Manish J, Byers, Peter, Byrd, William E, Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D, Coakley, Terra R, Cobban, Laurel A, Cogan, Joy D, Coggins, Matthew, Cole, F Sessions, Colley, Heather A, Cooper, Cynthia M, Cope, Heidi, Craigen, William J, Crouse, Andrew B, Cunningham, Michael, D'Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G, Deardorff, Matthew, Dell'Angelica, Esteban C, Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L, Douine, Emilie D, Duncan, Laura, Earl, Dawn, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Esteves, Cecilia, Falk, Marni, Fernandez, Liliana, Fieg, Elizabeth L, Fisher, Paul G

المصدر: Genetics in Medicine. 24(7)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Pediatric, Human Genome, 2.1 Biological and endogenous factors, Adenosine Diphosphate, Animals, Histidine, Humans, Methyltransferases, Mice, Mice, Inbred C57BL, Neurodevelopmental Disorders, Saccharomyces cerevisiae, Saccharomyces cerevisiae Proteins, Syndrome, Nonverbal neurodevelopment delays, Novel gene discovery, Precision animal modeling, Precision genomics, Translational genetics, Undiagnosed Diseases Network, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9kg2s7vk
https://escholarship.org/content/qt9kg2s7vk/qt9kg2s7vk.pdf

المؤلفون: McConkie‐Rosell, Allyn, Schoch, Kelly, Sullivan, Jennifer, Spillmann, Rebecca C, Cope, Heidi, Tan, Queenie K‐G, Palmer, Christina GS, Hooper, Stephen R, Shashi, Vandana, Acosta, Maria T, Adam, Margaret, Adams, David R, Agrawal, Pankaj B, Alejandro, Mercedes E, Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak‐Toydemir, Pinar, Beck, Anita, Beggs, Alan H, Behrens, Edward, Bejerano, Gill, Bennet, Jimmy, Berg‐Rood, Beverly, Bernstein, Jonathan A, Berry, Gerard T, Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonnenmann, Carsten, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C, Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A, Burrage, Lindsay C, Butte, Manish J, Byers, Peter, Byrd, William E, Carey, John, Carrasquillo, Olveen, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao‐Tuan, Clark, Gary D, Coakley, Terra R, Cobban, Laurel A, Cogan, Joy D, Coggins, Matthew, Sessions Cole, F, Colley, Heather A, Cooper, Cynthia M, Craigen, William J, Crouse, Andrew B, Cunningham, Michael, D'Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davids, Mariska, Dayal, Jyoti G, Deardorff, Matthew, Dell'Angelica, Esteban C, Dhar, Shweta U, Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Douine, Emilie D, Draper, David D, Duncan, Laura, Earl, Dawn, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Esteves, Cecilia, Estwick, Tyra, Falk, Marni, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L, Findley, Laurie C, Fisher, Paul G, Fogel, Brent L, Forghani, Irman, Fresard, Laure, Gahl, William A, Glass, Ian, Godfrey, Rena A

المصدر: Journal of Genetic Counseling. 31(1)

مصطلحات موضوعية: Pediatric, Biotechnology, Human Genome, Clinical Research, Genetics, Good Health and Well Being, Child, Delivery of Health Care, Family, Genomics, Humans, Parents, Exome Sequencing, exome and genomic sequencing, undiagnosed disorders, healthcare empowerment, genetic counseling, parental perspectives, rare disorders, Undiagnosed Disease Network, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/76z1t0c4

المؤلفون: Grebe, Stacey, Limon, Danica, McNeel, Morgan, Guzick, Andrew, Peters, Sarika, Tan, Wen-Hann, Sadhwani, Anjali, Bacino, Carlos, Samaco, Rodney, Berry, Leandra, Goodman, Wayne, Schneider, Sophie, Storch, Eric, Bird, Lynne

المصدر: American Journal on Intellectual and Developmental Disabilities. 127(1)

مصطلحات موضوعية: Angelman syndrome, anxiety, children, developmental behavior checklist, Adolescent, Adult, Angelman Syndrome, Anxiety, Caregivers, Checklist, Child, Humans, Neurodevelopmental Disorders

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3gq5n29s

المؤلفون: Savarirayan, Ravi, Tofts, Louise, Irving, Melita, Wilcox, William R, Bacino, Carlos A, Hoover-Fong, Julie, Font, Rosendo Ullot, Harmatz, Paul, Rutsch, Frank, Bober, Michael B, Polgreen, Lynda E, Ginebreda, Ignacio, Mohnike, Klaus, Charrow, Joel, Hoernschemeyer, Daniel, Ozono, Keiichi, Alanay, Yasemin, Arundel, Paul, Kotani, Yumiko, Yasui, Natsuo, White, Klane K, Saal, Howard M, Leiva-Gea, Antonio, Luna-González, Felipe, Mochizuki, Hiroshi, Basel, Donald, Porco, Dania M, Jayaram, Kala, Fisheleva, Elena, Huntsman-Labed, Alice, Day, Jonathan RS

المصدر: Genetics in Medicine. 23(12)

مصطلحات موضوعية: Clinical Trials and Supportive Activities, Clinical Research, Pediatric, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Decent Work and Economic Growth, Achondroplasia, Child, Double-Blind Method, Humans, Natriuretic Peptide, C-Type, Treatment Outcome, Genetics, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1h86w5fs
https://escholarship.org/content/qt1h86w5fs/qt1h86w5fs.pdf

المؤلفون: Veatch, Olivia J, Malow, Beth A, Lee, Hye-Seung, Knight, Aryn, Barrish, Judy O, Neul, Jeffrey L, Lane, Jane B, Skinner, Steven A, Kaufmann, Walter E, Miller, Jennifer L, Driscoll, Daniel J, Bird, Lynne M, Butler, Merlin G, Dykens, Elisabeth M, Gold, June-Anne, Kimonis, Virginia, Bacino, Carlos A, Tan, Wen-Hann, Kothare, Sanjeev V, Peters, Sarika U, Percy, Alan K, Glaze, Daniel G

مصطلحات موضوعية: Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Neurosciences, Lung, Pediatric, Rare Diseases, Behavioral and Social Science, Intellectual and Developmental Disabilities (IDD), Genetics, Mental Health, Clinical Research, Sleep Research, Neurodegenerative, Brain Disorders, Adolescent, Angelman Syndrome, Child, Child, Preschool, Humans, Neurodevelopmental Disorders, Prader-Willi Syndrome, Rett Syndrome, Sleep Wake Disorders, Pediatric sleep, Rare disease, Genetic syndromes, Neurodevelopment, Paediatrics and Reproductive Medicine, Neurology & Neurosurgery, Paediatrics

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6zx0t3dr

المؤلفون: Gillentine, Madelyn A, Wang, Tianyun, Hoekzema, Kendra, Rosenfeld, Jill, Liu, Pengfei, Guo, Hui, Kim, Chang N, De Vries, Bert BA, Vissers, Lisenka ELM, Nordenskjold, Magnus, Kvarnung, Malin, Lindstrand, Anna, Nordgren, Ann, Gecz, Jozef, Iascone, Maria, Cereda, Anna, Scatigno, Agnese, Maitz, Silvia, Zanni, Ginevra, Bertini, Enrico, Zweier, Christiane, Schuhmann, Sarah, Wiesener, Antje, Pepper, Micah, Panjwani, Heena, Torti, Erin, Abid, Farida, Anselm, Irina, Srivastava, Siddharth, Atwal, Paldeep, Bacino, Carlos A, Bhat, Gifty, Cobian, Katherine, Bird, Lynne M, Friedman, Jennifer, Wright, Meredith S, Callewaert, Bert, Petit, Florence, Mathieu, Sophie, Afenjar, Alexandra, Christensen, Celenie K, White, Kerry M, Elpeleg, Orly, Berger, Itai, Espineli, Edward J, Fagerberg, Christina, Brasch-Andersen, Charlotte, Hansen, Lars Kjærsgaard, Feyma, Timothy, Hughes, Susan, Thiffault, Isabelle, Sullivan, Bonnie, Yan, Shuang, Keller, Kory, Keren, Boris, Mignot, Cyril, Kooy, Frank, Meuwissen, Marije, Basinger, Alice, Kukolich, Mary, Philips, Meredith, Ortega, Lucia, Drummond-Borg, Margaret, Lauridsen, Mathilde, Sorensen, Kristina, Lehman, Anna, CAUSES Study, Lopez-Rangel, Elena, Levy, Paul, Lessel, Davor, Lotze, Timothy, Madan-Khetarpal, Suneeta, Sebastian, Jessica, Vento, Jodie, Vats, Divya, Benman, L Manace, Mckee, Shane, Mirzaa, Ghayda M, Muss, Candace, Pappas, John, Peeters, Hilde, Romano, Corrado, Elia, Maurizio, Galesi, Ornella, Simon, Marleen EH, van Gassen, Koen LI, Simpson, Kara, Stratton, Robert, Syed, Sabeen, Thevenon, Julien, Palafoll, Irene Valenzuela, Vitobello, Antonio, Bournez, Marie, Faivre, Laurence, Xia, Kun, SPARK Consortium, Earl, Rachel K, Nowakowski, Tomasz, Bernier, Raphael A, Eichler, Evan E

المصدر: Genome medicine. 13(1)

مصطلحات موضوعية: CAUSES Study, SPARK Consortium, Cortex development, Gene families, Neurodevelopmental disorders, hnRNPs, Genetics, Clinical Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9ff2t46d

المؤلفون: Savarirayan, Ravi, Irving, Melita, Wilcox, William R., Bacino, Carlos A., Hoover-Fong, Julie E., Harmatz, Paul, Polgreen, Lynda E., Mohnike, Klaus, Prada, Carlos E., Kubota, Takuo, Arundel, Paul, Leiva-Gea, Antonio, Rowell, Richard, Low, Andrea, Sabir, Ian, Huntsman-Labed, Alice, Day, Jonathan

المساهمون: BioMarin Pharmaceutical Inc

المصدر: Genetics in Medicine ; volume 26, issue 12, page 101274 ; ISSN 1098-3600

الاتاحة: https://doi.org/10.1016/j.gim.2024.101274
https://api.elsevier.com/content/article/PII:S1098360024002089?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360024002089?httpAccept=text/plain

المؤلفون: Blackburn, Patrick R, Ebstein, Frédéric, Hsieh, Tzung‐Chien, Motta, Marialetizia, Radio, Francesca Clementina, Herkert, Johanna C, Rinne, Tuula, Thiffault, Isabelle, Rapp, Michele, Alders, Mariel, Maas, Saskia, Gérard, Bénédicte, Smol, Thomas, Vincent‐Delorme, Catherine, Cogné, Benjamin, Isidor, Bertrand, Vincent, Marie, Bachmann-Gagescu, Ruxandra, Rauch, Anita, Joset, Pascal, Ferrero, Giovanni Battista, Ciolfi, Andrea, Husson, Thomas, Guerrot, Anne‐Marie, Bacino, Carlos, Macmurdo, Colleen, Thompson, Stephanie S, Rosenfeld, Jill A, Faivre, Laurence, Mau‐Them, Frederic Tran

المصدر: Blackburn, Patrick R; Ebstein, Frédéric; Hsieh, Tzung‐Chien; Motta, Marialetizia; Radio, Francesca Clementina; Herkert, Johanna C; Rinne, Tuula; Thiffault, Isabelle; Rapp, Michele; Alders, Mariel; Maas, Saskia; Gérard, Bénédicte; Smol, Thomas; Vincent‐Delorme, Catherine; Cogné, Benjamin; Isidor, Bertrand; Vincent, Marie; Bachmann-Gagescu, Ruxandra; Rauch, Anita; Joset, Pascal; Ferrero, Giovanni Battista; Ciolfi, Andrea; Husson, Thomas; Guerrot, Anne‐Marie; Bacino, Carlos; Macmurdo, Colleen; Thompson, Stephanie S; Rosenfeld, Jill A; Faivre, Laurence; Mau‐Them, Frederic Tran; et al (2024). Loss‐of‐Function Variants in $CUL3$ Cause a Syndromic Neurodevelopmental Disorder. Annals of Neurology:Epub ahead of print.

مصطلحات موضوعية: Institute of Medical Genetics, Institute of Molecular Life Sciences, 610 Medicine & health, 570 Life sciences, biology, Genetics, Genetics (clinical), Genetic Medicine, Genomic Medicine

وصف الملف: application/pdf; other

Relation: https://www.zora.uzh.ch/id/eprint/262437/1/Annals_of_Neurology___2024___Blackburn___Loss_of_Function_Variants_in_CUL3_Cause_a_Syndromic_Neurodevelopmental_Disorder.pdf; https://www.zora.uzh.ch/id/eprint/262437/2/ana27077_sup_0002_tables.xlsx; https://www.zora.uzh.ch/id/eprint/262437/3/ana27077_sup_0001_supinfo.docx; info:pmid/39301775; urn:issn:0364-5134

الاتاحة: https://www.zora.uzh.ch/id/eprint/262437/
https://www.zora.uzh.ch/id/eprint/262437/1/Annals_of_Neurology___2024___Blackburn___Loss_of_Function_Variants_in_CUL3_Cause_a_Syndromic_Neurodevelopmental_Disorder.pdf
https://www.zora.uzh.ch/id/eprint/262437/2/ana27077_sup_0002_tables.xlsx
https://www.zora.uzh.ch/id/eprint/262437/3/ana27077_sup_0001_supinfo.docx
https://doi.org/10.1002/ana.27077

المؤلفون: Vuocolo, Blake, German, Ryan J., Lalani, Seema R., Murali, Chaya N., Bacino, Carlos A., Baskin, Stephanie, Littlejohn, Rebecca, Odom, John D., McLean, Scott, Carter, Kent

المصدر: School of Medicine Publications and Presentations

مصطلحات موضوعية: Medicine and Health Sciences

وصف الملف: application/pdf

Relation: https://scholarworks.utrgv.edu/som_pub/1430; https://scholarworks.utrgv.edu/context/som_pub/article/2429/viewcontent/153552.pdf

الاتاحة: https://scholarworks.utrgv.edu/som_pub/1430
https://doi.org/10.1016/j.gim.2024.101102
https://scholarworks.utrgv.edu/context/som_pub/article/2429/viewcontent/153552.pdf

المؤلفون: Qi, Yulan, Chan, Ming Liang, Mould, Diane R., Larimore, Kevin, Fisheleva, Elena, Cherukuri, Anu, Day, Jonathan, Savarirayan, Ravi, Irving, Melita, Bacino, Carlos A., Hoover-Fong, Julie, Ozono, Keiichi, Mohnike, Klaus, Wilcox, William R., Bober, Michael B., Henshaw, Joshua

المساهمون: BioMarin Pharmaceutical

المصدر: Clinical Pharmacokinetics ; volume 63, issue 5, page 707-719 ; ISSN 0312-5963 1179-1926

الاتاحة: http://dx.doi.org/10.1007/s40262-024-01371-6
https://link.springer.com/content/pdf/10.1007/s40262-024-01371-6.pdf
https://link.springer.com/article/10.1007/s40262-024-01371-6/fulltext.html

المؤلفون: Rael, Victoria E., Yano, Julian A., Huizar, John P., Slayden, Leianna C., Weiss, Madeleine A., Turcotte, Elizabeth A., Terry, Jacob M., Zuo, Wenqi, Thiffault, Isabelle, Pastinen, Tomi, Farrow, Emily G., Jenkins, Janda L., Becker, Mara L., Wong, Stephen C., Stevens, Anne M., Otten, Catherine, Allenspach, Eric J., Bonner, Devon E., Bernstein, Jonathan A., Wheeler, Matthew T., Saxton, Robert A., Acosta, Maria T., Adams, David R., Alvarez, Raquel L., Alvey, Justin, Allworth, Aimee, Andrews, Ashley, Ashley, Euan A., Afzali, Ben, Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon

المساهمون: Lupus Research Institute, National Institutes of Health, Howard Hughes Medical Institute, National Science Foundation, Children’s Mercy Research Institute, Office of Strategic Coordination, Office of the NIH, Chan-Zuckerburg Biohub Physician Scientist Fellowship Program, Centers for Disease Control and Prevention

المصدر: Journal of Experimental Medicine ; volume 221, issue 8 ; ISSN 0022-1007 1540-9538

الاتاحة: http://dx.doi.org/10.1084/jem.20232005
https://rupress.org/jem/article-pdf/doi/10.1084/jem.20232005/1928690/jem_20232005.pdf

المؤلفون: Li, Shenglan, Zhao, Sen, Sinson, Jefferson C., Bajic, Aleksandar, Rosenfeld, Jill A., Neeley, Matthew B., Pena, Mezthly, Worley, Kim C., Burrage, Lindsay C., Weisz-Hubshman, Monika, Ketkar, Shamika, Craigen, William J., Clark, Gary D., Lalani, Seema, Bacino, Carlos A., Machol, Keren, Chao, Hsiao-Tuan, Potocki, Lorraine, Emrick, Lisa, Sheppard, Jennifer, Nguyen, My T.T., Khoramnia, Anahita, Hernandez, Paula Patricia, Nagamani, Sandesh CS., Liu, Zhandong, Eng, Christine M., Lee, Brendan, Liu, Pengfei

المساهمون: NHGRI, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH Common Fund

المصدر: The American Journal of Human Genetics ; volume 111, issue 5, page 841-862 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2024.03.007
https://api.elsevier.com/content/article/PII:S0002929724000806?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929724000806?httpAccept=text/plain

المؤلفون: Pucel, Jenna, Briere, Lauren C., Reuter, Chloe, Gochyyev, Perman, Acosta, Maria T., Adams, David R., Alvarez, Raquel L., Alvey, Justin, Allworth, Aimee, Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Peter Chang, Ta Chen, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Chinn, Ivan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A.

المساهمون: National Institutes of Health

المصدر: Genetics in Medicine ; volume 26, issue 6, page 101115 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1016/j.gim.2024.101115
https://api.elsevier.com/content/article/PII:S1098360024000480?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360024000480?httpAccept=text/plain

المؤلفون: Scala, Marcello, Tomati, Valeria, Ferla, Matteo, Lena, Mariateresa, Cohen, Julie S., Fatemi, Ali, Brokamp, Elly, Bican, Anna, Phillips, John A., Koziura, Mary E., Nicouleau, Michael, Rio, Marlene, Siquier, Karine, Boddaert, Nathalie, Musante, Ilaria, Tamburro, Serena, Baldassari, Simona, Iacomino, Michele, Scudieri, Paolo, Rosenfeld, Jill A., Bellus, Gary, Reed, Sara, Al Saif, Hind, Russo, Rossana Sanchez, Walsh, Matthew B., Cantagrel, Vincent, Crunk, Amy, Gustincich, Stefano, Ruggiero, Sarah M., Fitzgerald, Mark P., Helbig, Ingo, Striano, Pasquale, Severino, Mariasavina, Salpietro, Vincenzo, Pedemonte, Nicoletta, Zara, Federico, Acosta, Maria T., Adams, David R., Alvarez, Raquel L., Alvey, Justin, Allworth, Aimee, Andrews, Ashley, Ashley, Euan A., Afzali, Ben, Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael

المساهمون: Fondazione Compagnia di San Paolo, NIH Common Fund, Rosetrees Trust, Ministero della Salute

المصدر: The American Journal of Human Genetics ; volume 111, issue 3, page 529-543 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2024.02.001
https://api.elsevier.com/content/article/PII:S0002929724000338?httpAccept=text/xml
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المؤلفون: Hoover-Fong, Julie, Irving, Melita, Bacino, Carlos, Charrow, Joel, Prada, Carlos, Cormier-Daire, Valerie, Polgreen, Lynda, Harmatz, Paul, Ghani, Sajda, Fisheleva, Elena, Low, Andrea, Day, Jonathan, Phillips, John, Savarirayan, Ravi

المصدر: Genetics in Medicine Open ; volume 2, page 101041 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2024.101041
https://api.elsevier.com/content/article/PII:S2949774424001870?httpAccept=text/xml
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المؤلفون: Savarirayan, Ravi, Wilcox, William, Harmatz, Paul, Phillips, John, Polgreen, Lynda, Tofts, Louise, Ozono, Keiichi, Arundel, Paul, Irving, Melita, Bacino, Carlos, Basel, Donald, Carroll, Ricki, Charrow, Joel, Mochizuki, Hiroshi, Kotani, Yumiko, Saal, Howard, Han, Lingling, Low, Andrea, Fisheleva, Elena, Day, Jonathan

المصدر: Genetics in Medicine Open ; volume 2, page 101028 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2024.101028
https://api.elsevier.com/content/article/PII:S2949774424001742?httpAccept=text/xml
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