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

الوصول الحر: https://escholarship.org/uc/item/1tp7967mTest

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, Aetiology, 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

الوصول الحر: https://escholarship.org/uc/item/9kg2s7vkTest
https://escholarship.org/content/qt9kg2s7vk/qt9kg2s7vk.pdfTest

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

الوصول الحر: https://escholarship.org/uc/item/76z1t0c4Test

المؤلفون: Yang, Jun, Chen, Tiansheng, Kao, Eric, Dong, Jie, Lattier, John, Dai, Hongzheng, Meng, Linyan, Xia, Fan, Schmitt, Eric, Peacock, Sandra, Craigen, William, Rigobello, Robert, Wong, Lee-Jun, Eng, Christine, Wang, Yue

المصدر: Genetics in Medicine Open ; volume 2, page 101626 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2024.101626Test
https://api.elsevier.com/content/article/PII:S2949774424007726?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774424007726?httpAccept=text/plainTest

المؤلفون: Wilke, Matheus, Goldstein, Jenny, Groopman, Emily, Mohan, Shruthi, Waddell, Amber, Fernandez, Raquel, Chen, Hongjie, Bali, Deeksha, Baudet, Heather, Clarke, Lorne, Hung, Christina, Mao, Rong, Yuzyuk, Tatiana, Craigen, William, Pinto e Vairo, Filippo

المصدر: Genetics in Medicine Open ; volume 2, page 101148 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2024.101148Test
https://api.elsevier.com/content/article/PII:S2949774424002942?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774424002942?httpAccept=text/plainTest

المؤلفون: Sacoto, Maria J Guillen, Tchasovnikarova, Iva A, Torti, Erin, Forster, Cara, Andrew, E Hallie, Anselm, Irina, Baranano, Kristin W, Briere, Lauren C, Cohen, Julie S, Craigen, William J, Cytrynbaum, Cheryl, Ekhilevitch, Nina, Elrick, Matthew J, Fatemi, Ali, Fraser, Jamie L, Gallagher, Renata C, Guerin, Andrea, Haynes, Devon, High, Frances A, Inglese, Cara N, Kiss, Courtney, Koenig, Mary Kay, Krier, Joel, Lindstrom, Kristin, Marble, Michael, Meddaugh, Hannah, Moran, Ellen S, Morel, Chantal F, Mu, Weiyi, Muller, Eric A, Nance, Jessica, Natowicz, Marvin R, Numis, Adam L, Ostrem, Bridget, Pappas, John, Stafstrom, Carl E, Streff, Haley, Sweetser, David A, Szybowska, Marta, Network, Undiagnosed Diseases, Walker, Melissa A, Wang, Wei, Weiss, Karin, Weksberg, Rosanna, Wheeler, Patricia G, Yoon, Grace, Kingston, Robert E, Juusola, Jane

المصدر: American Journal of Human Genetics. 107(2)

مصطلحات موضوعية: Neurodegenerative, Rare Diseases, Pediatric, Genetics, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Neurosciences, Congenital Structural Anomalies, Clinical Research, Dental/Oral and Craniofacial Disease, Aetiology, 2.1 Biological and endogenous factors, Neurological, Adenosine Triphosphatases, Adolescent, Adult, Child, Child, Preschool, Craniofacial Abnormalities, Female, Genetic Diseases, Inborn, Growth Disorders, Heterozygote, Humans, Infant, Intellectual Disability, Male, Microcephaly, Middle Aged, Mutation, Neurodevelopmental Disorders, Phenotype, Transcription Factors, Young Adult, Undiagnosed Diseases Network, CMT2Z, Leigh-like disease, MORC2, developmental delay, intellectual disability, microcephaly, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6n82g05cTest

المؤلفون: Accogli, Andrea, Calabretta, Sara, St-Onge, Judith, Boudrahem-Addour, Nassima, Dionne-Laporte, Alexandre, Joset, Pascal, Azzarello-Burri, Silvia, Rauch, Anita, Krier, Joel, Fieg, Elizabeth, Pallais, Juan C, Network, Undiagnosed Diseases, Acosta, Maria T, Adams, David R, Agrawal, Pankaj, Alejandro, Mercedes E, Allard, Patrick, Alvey, Justin, Andrews, Ashley, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Barbouth, Deborah, Batzli, Gabriel F, Bayrak-Toydemir, Pinar, Beggs, Alan H, Bejerano, Gill, Bellen, Hugo J, Bernstein, Jonathan A, Berry, Gerard T, Bican, Anna, Bick, David P, Birch, Camille L, Bivona, Stephanie, Bohnsack, John, Bonnenmann, Carsten, Bonner, Devon, Boone, Braden E, Bostwick, Bret L, Botto, Lorenzo, Briere, Lauren C, Brokamp, Elly, Brown, Donna M, Brush, Matthew, Burke, Elizabeth A, Burrage, Lindsay C, Butte, Manish J, Carey, John, Carrasquillo, Olveen, Chang, Ta Chen Peter, Chao, Hsiao-Tuan, Clark, Gary D, Coakley, Terra R, Cobban, Laurel A, Cogan, Joy D, Cole, F Sessions, Colley, Heather A, Cooper, Cynthia M, Cope, Heidi, Craigen, William J, D’Souza, Precilla, Dasari, Surendra, Davids, Mariska, Dayal, Jyoti G, Dell’Angelica, Esteban C, Dhar, Shweta U, Dorrani, Naghmeh, Dorset, Daniel C, Douine, Emilie D, Draper, David D, Duncan, Laura, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L, Fisher, Paul G, Fogel, Brent L, Forghani, Irman, Fresard, Laure, Gahl, William A, Godfrey, Rena A, Goldman, Alica M, Goldstein, David B, Gourdine, Jean-Philippe F, Grajewski, Alana, Groden, Catherine A, Gropman, Andrea L, Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A, Hayes, Nichole

المصدر: American Journal of Human Genetics. 105(4)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Genetics, Biological Sciences, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Axons, Cadherins, Corpus Callosum, Eye, Frameshift Mutation, Genitalia, Heart Defects, Congenital, Heterozygote, Humans, Neurodevelopmental Disorders, Undiagnosed Diseases Network, ACOG, CDH2, N-cadherin, cardiac defects, cell-cell adhesion, corpus callosum, eye defects, genital defects, intellectual disability, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/113843xkTest

المؤلفون: Shashi, Vandana, Geist, Janelle, Lee, Youngha, Yoo, Yongjin, Shin, Unbeom, Schoch, Kelly, Sullivan, Jennifer, Stong, Nicholas, Smith, Edward, Jasien, Joan, Kranz, Peter, Lee, Yoonsung, Shin, Yong Beom, Wright, Nathan T, Choi, Murim, Kontrogianni‐Konstantopoulos, Aikaterini, Acosta, Maria T, Adams, David R, Aday, Aaron, Alejandro, Mercedes E, Allard, Patrick, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Barbouth, Deborah, Batzli, Gabriel F, Beggs, Alan H, Bellen, Hugo J, Bernstein, Jonathan A, Berry, Gerard T, Bican, Anna, Bick, David P, Birch, Camille L, Bivona, Stephanie, Bonnenmann, Carsten, Bonner, Devon, Boone, Braden E, Bostwick, Bret L, Briere, Lauren C, Brokamp, Elly, Brown, Donna M, Brush, Matthew, Burke, Elizabeth A, Burrage, Lindsay C, Butte, Manish J, Carrasquillo, Olveen, Chang, Ta Chen Peter, Chao, Hsiao‐Tuan, Clark, Gary D, Coakley, Terra R, Cobban, Laurel A, Cogan, Joy D, Cole, F Sessions, Colley, Heather A, Cooper, Cynthia M, Cope, Heidi, Craigen, William J, D'Souza, Precilla, Dasari, Surendra, Davids, Mariska, Davidson, Jean M, Dayal, Jyoti G, Dell'Angelica, Esteban C, Dhar, Shweta U, Dorrani, Naghmeh, Dorset, Daniel C, Douine, Emilie D, Draper, David D, Dries, Annika M, Duncan, Laura, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Enns, Gregory M, Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L, Fisher, Paul G, Fogel, Brent L, Forghani, Irman, Friedman, Noah D, Gahl, William A, Godfrey, Rena A, Goldman, Alica M, Goldstein, David B, Gourdine, Jean‐Philippe F, Grajewski, Alana, Groden, Catherine A, Gropman, Andrea L, Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A, High, Frances, Holm, Ingrid A

المصدر: Human Mutation. 40(8)

مصطلحات موضوعية: Biological Sciences, Medical Physiology, Biomedical and Clinical Sciences, Clinical Research, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Musculoskeletal, Adult, Arthrogryposis, Carrier Proteins, Child, Fathers, Female, Humans, Infant, Male, Models, Molecular, Mutation, Neuromuscular Diseases, Pedigree, Phenotype, Protein Conformation, Whole Genome Sequencing, arthrogryposis, hypotonia, MYBPC1, myopathy, myosin binding protein-C, tremor, Undiagnosed Diseases Network, Genetics, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/44k6m8qwTest

المؤلفون: Newman, John H, Shaver, Aaron, Sheehan, Jonathan H, Mallal, Simon, Stone, John H, Pillai, Shiv, Bastarache, Lisa, Riebau, Derek, Allard‐Chamard, Hugues, Stone, William M, Perugino, Cory, Pilkinton, Mark, Smith, Scott A, McDonnell, Wyatt J, Capra, John A, Meiler, Jens, Cogan, Joy, Xing, Kelly, Mahajan, Vinay S, Mattoo, Hamid, Hamid, Rizwan, Phillips, John A, Adams, David R, Aday, Aaron, Alejandro, Mercedes E, Allard, Patrick, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F, Beggs, Alan H, Behnam, Babak, Bellen, Hugo J, Bernstein, Jonathan A, Bican, Anna, Bick, David P, Birch, Camille L, Bonner, Devon, Boone, Braden E, Bostwick, Bret L, Briere, Lauren C, Brown, Donna M, Brush, Matthew, Burke, Elizabeth A, Burrage, Lindsay C, Butte, Manish J, Chen, Shan, Clark, Gary D, Coakley, Terra R, Cooper, Cynthia M, Cope, Heidi, Craigen, William J, D'Souza, Precilla, Davids, Mariska, Davidson, Jean M, Dayal, Jyoti G, Dell'Angelica, Esteban C, Dhar, Shweta U, Dipple, Katrina M, Donnell‐Fink, Laurel A, Dorrani, Naghmeh, Dorset, Daniel C, Douine, Emilie D, Draper, David D, Dries, Annika M, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Enns, Gregory M, Eskin, Ascia, Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fisher, Paul G, Fogel, Brent L, Friedman, Noah D, Gahl, William A, Glanton, Emily, Godfrey, Rena A, Goldman, Alica M, Goldstein, David B, Gould, Sarah E, Gourdine, Jean‐Philippe F, Groden, Catherine A, Gropman, Andrea L, Haendel, Melissa, Hanchard, Neil A, Handley, Lori H, Herzog, Matthew R, High, Francis, Holm, Ingrid A, Hom, Jason, Howerton, Ellen M, Huang, Yong, Jamal, Fariha, Jiang, Yong‐hui, Johnston, Jean M

المصدر: Molecular Genetics & Genomic Medicine. 7(6)

مصطلحات موضوعية: Biological Sciences, Genetics, Rare Diseases, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Adolescent, CD4-Positive T-Lymphocytes, Genetic Variation, Humans, Immunoglobulin G, Immunoglobulin G4-Related Disease, Male, Middle Aged, T-Lymphocytes, Cytotoxic, cytotoxic lymphocytes, heritable, IgG4-RD, Undiagnosed Disease Network, Medicinal and Biomolecular Chemistry, Clinical Sciences, Medicinal and biomolecular chemistry

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5m28j4dwTest

المؤلفون: Burrage, Lindsay C, Reynolds, John J, Baratang, Nissan Vida, Phillips, Jennifer B, Wegner, Jeremy, McFarquhar, Ashley, Higgs, Martin R, Christiansen, Audrey E, Lanza, Denise G, Seavitt, John R, Jain, Mahim, Li, Xiaohui, Parry, David A, Raman, Vandana, Chitayat, David, Chinn, Ivan K, Bertuch, Alison A, Karaviti, Lefkothea, Schlesinger, Alan E, Earl, Dawn, Bamshad, Michael, Savarirayan, Ravi, Doddapaneni, Harsha, Muzny, Donna, Jhangiani, Shalini N, Eng, Christine M, Gibbs, Richard A, Bi, Weimin, Emrick, Lisa, Rosenfeld, Jill A, Postlethwait, John, Westerfield, Monte, Dickinson, Mary E, Beaudet, Arthur L, Ranza, Emmanuelle, Huber, Celine, Cormier-Daire, Valérie, Shen, Wei, Mao, Rong, Heaney, Jason D, Orange, Jordan S, Genomics, University of Washington Center for Mendelian, Network, Undiagnosed Diseases, Adams, David R, Aday, Aaron, Alejandro, Mercedes E, Allard, Patrick, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Baker, Eva, Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F, Beggs, Alan H, Behnam, Babak, Bellen, Hugo J, Bernstein, Jonathan A, Berry, Gerard T, Bican, Anna, Bick, David P, Birch, Camille L, Bonner, Devon, Boone, Braden E, Bostwick, Bret L, Briere, Lauren C, Brokamp, Elly, Brown, Donna M, Brush, Matthew, Burke, Elizabeth A, Butte, Manish J, Chen, Shan, Clark, Gary D, Coakley, Terra R, Cogan, Joy D, Colley, Heather A, Cooper, Cynthia M, Cope, Heidi, Craigen, William J, D’Souza, Precilla, Davids, Mariska, Davidson, Jean M, Dayal, Jyoti G, Dell’Angelica, Esteban C, Dhar, Shweta U, Dipple, Katrina M, Donnell-Fink, Laurel A, Dorrani, Naghmeh, Dorset, Daniel C, Douine, Emilie D, Draper, David D, Dries, Annika M, Duncan, Laura, Eckstein, David J, Emrick, Lisa T, Enns, Gregory M, Eskin, Ascia, Esteves, Cecilia

المصدر: American Journal of Human Genetics. 104(3)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Rare Diseases, Clinical Research, Congenital Structural Anomalies, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Alleles, Animals, Cells, Cultured, Child, Child, Preschool, Chromosomal Instability, DNA Damage, Female, Fibroblasts, Genetic Association Studies, Genetic Variation, Humans, Mice, Mice, Knockout, Musculoskeletal Abnormalities, NF-kappa B, Osteochondrodysplasias, Exome Sequencing, Young Adult, Zebrafish, University of Washington Center for Mendelian Genomics, Undiagnosed Diseases Network, DNA repair, DNA replication, SPONASTRIME dysplasia, TONSL, exome sequencing, skeletal dysplasia, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/28k4m2m4Test