المؤلفون: Chen, Fuying, Ni, Cheng, Wang, Xiaoxiao, Cheng, Ruhong, Pan, Chaolan, Wang, Yumeng, Liang, Jianying, Zhang, Jia, Cheng, Jinke, Chin, Y Eugene, Zhou, Yi, Wang, Zhen, Guo, Yiran, Chen, She, Htun, Stephanie, Mathes, Erin F, de Alba Campomanes, Alejandra G, Slavotinek, Anne M, Zhang, Si, Li, Ming, Yao, Zhirong

المساهمون: National Natural Science Foundation of China

المصدر: EMBO Molecular Medicine ; volume 14, issue 5 ; ISSN 1757-4676 1757-4684

مصطلحات موضوعية: Molecular Medicine

الإتاحة: https://doi.org/10.15252/emmm.202114904Test

المؤلفون: Bowling, Kevin M., Thompson, Michelle L., Kelly, Melissa A., Scollon, Sarah, Slavotinek, Anne M., Powell, Bradford C., Kirmse, Brian M., Hendon, Laura G., Brothers, Kyle B., Korf, Bruce R., Cooper, Gregory M., Greally, John M., Hurst, Anna C. E.

المساهمون: National Human Genome Research Institute

المصدر: Genome Medicine ; volume 14, issue 1 ; ISSN 1756-994X

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, Molecular Medicine

الإتاحة: https://doi.org/10.1186/s13073-022-01139-2Test

المؤلفون: Wu, Di, Mandal, Shyamali, Choi, Alex, Anderson, August, Prochazkova, Michaela, Perry, Hazel, Gil-Da-Silva-Lopes, Vera L, Lao, Richard, Wan, Eunice, Tang, Paul Ling-Fung, Kwok, Pui-yan, Klein, Ophir, Zhuan, Bian, Slavotinek, Anne M

المصدر: Human Molecular Genetics. 24(15)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Biotechnology, Pediatric, Dental/Oral and Craniofacial Disease, Pediatric Research Initiative, 2.1 Biological and endogenous factors, Aetiology, Animals, Bone Morphogenetic Protein 4, Brain, Cleft Lip, Cleft Palate, Exome, Gene Expression Regulation, Developmental, HeLa Cells, High-Throughput Nucleotide Sequencing, Homeodomain Proteins, Humans, Jaw Abnormalities, Mesoderm, Mice, Mice, Knockout, Morpholinos, Transcription Factors, Zebrafish, Zebrafish Proteins, Hela Cells, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/1r8983dcTest

المؤلفون: Pua, Heather H, Krishnamurthi, Swetha, Farrell, Jessica, Margeta, Marta, Ursell, Philip C, Powers, Martin, Slavotinek, Anne M, Jeng, Linda JB

المصدر: American Journal of Medical Genetics Part A. 164(1)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Pediatric, Biotechnology, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Congenital, Abnormalities, Multiple, Chromosome Deletion, Chromosomes, Human, Pair 9, Comparative Genomic Hybridization, Facies, Fatal Outcome, Female, Gene Deletion, Humans, Infant, Phenotype, 9q21 deletion, craniofacial abnormalities, cleft palate, heart septal defects, atrial, bicorunate uterus, hip dislocation, muscle hypotonia, comparative genomic hybridization, Clinical Sciences, Clinical sciences

الوصول الحر: https://escholarship.org/uc/item/1nr630n9Test

المؤلفون: Rossignol, Francis, Duarte Moreno, Marvid S., Benoist, Jean-François, Boehm, Manfred, Bourrat, Emmanuelle, Cano, Aline, Chabrol, Brigitte, Cosson, Claudine, Díaz, José Luís Dapena, D’Harlingue, Arthur, Dimmock, David, Freeman, Alexandra F., García, María Tallón, Garganta, Cheryl, Goerge, Tobias, Halbach, Sara S., de Laffolie, Jan, Lam, Christina T., Martin, Ludovic, Martins, Esmeralda, Meinhardt, Andrea, Melki, Isabelle, Ombrello, Amanda K., Pérez, Noémie, Quelhas, Dulce, Scott, Anna, Slavotinek, Anne M., Soares, Ana Rita, Stein, Sarah L., Süßmuth, Kira, Thies, Jenny, Ferreira, Carlos R., Schiff, Manuel

المصدر: Genetics in Medicine ; volume 23, issue 9, page 1604-1615 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1038/s41436-021-01200-2Test
https://www.nature.com/articles/s41436-021-01200-2.pdfTest
https://www.nature.com/articles/s41436-021-01200-2Test
https://api.elsevier.com/content/article/PII:S1098360021051030?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021051030?httpAccept=text/plainTest

المؤلفون: Biesecker, Leslie G., Adam, Margaret P., Alkuraya, Fowzan S., Amemiya, Anne R., Bamshad, Michael J., Beck, Anita E., Bennett, James T., Bird, Lynne M., Carey, John C., Chung, Brian, Clark, Robin D., Cox, Timothy C., Curry, Cynthia, Dinulos, Mary Beth Palko, Dobyns, William B., Giampietro, Philip F., Girisha, Katta M., Glass, Ian A., Graham, John M., Gripp, Karen W., Haldeman-Englert, Chad R., Hall, Bryan D., Innes, A. Micheil, Kalish, Jennifer M., Keppler-Noreuil, Kim M., Kosaki, Kenjiro, Kozel, Beth A., Mirzaa, Ghayda M., Mulvihill, John J., Nowaczyk, Malgorzata J.M., Pagon, Roberta A., Retterer, Kyle, Rope, Alan F., Sanchez-Lara, Pedro A., Seaver, Laurie H., Shieh, Joseph T., Slavotinek, Anne M., Sobering, Andrew K., Stevens, Cathy A., Stevenson, David A., Tan, Tiong Yang, Tan, Wen-Hann, Tsai, Anne C., Weaver, David D., Williams, Marc S., Zackai, Elaine, Zarate, Yuri A.

المصدر: The American Journal of Human Genetics ; volume 108, issue 9, page 1809-1810 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.07.006Test
https://api.elsevier.com/content/article/PII:S0002929721002743?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929721002743?httpAccept=text/plainTest

المؤلفون: Slavotinek, Anne M, Mehrotra, Pavni, Nazarenko, Irina, Tang, Paul Ling-Fung, Lao, Richard, Cameron, Don, Li, Ben, Chu, Catherine, Chou, Chris, Marqueling, Ann L, Yahyavi, Mani, Cordoro, Kelly, Frieden, Ilona, Glaser, Tom, Prescott, Trine, Morren, Marie-Anne, Devriendt, Koen, Kwok, Pui-yan, Petkovich, Martin, Desnick, Robert J

المصدر: Human Molecular Genetics. 22(4)

مصطلحات موضوعية: Congenital Structural Anomalies, Genetics, Biotechnology, Clinical Research, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Congenital, Animals, COS Cells, Chlorocebus aethiops, Cytochrome P-450 Enzyme System, Cytochrome P450 Family 26, DNA Mutational Analysis, Ectodermal Dysplasia, Focal Facial Dermal Dysplasias, Frameshift Mutation, Genetic Association Studies, Humans, Mice, Microsatellite Repeats, Mutation, Missense, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0bq0m7jvTest

المؤلفون: Lopez Jimenez, Nelson, Flannick, Jason, Yahyavi, Mani, Li, Jiang, Bardakjian, Tanya, Tonkin, Leath, Schneider, Adele, Sherr, Elliott H, Slavotinek, Anne M

المصدر: BMC Medical Genetics. 12(1)

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6m4912xqTest

المؤلفون: Slavotinek, Anne M., Solomon, Benjamin D.

المصدر: American Journal of Medical Genetics Part A ; volume 182, issue 7, page 1553-1554 ; ISSN 1552-4825 1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.61715Test

المؤلفون: Sparks, Teresa N., Chen, Flavia, Rego, Shannon, Lianoglou, Billie R., Patel, Sachi, Slavotinek, Anne M., Koenig, Barbara, Norton, Mary E.

المصدر: American Journal of Obstetrics and Gynecology ; volume 222, issue 1, page S561 ; ISSN 0002-9378

مصطلحات موضوعية: Obstetrics and Gynecology

الإتاحة: https://doi.org/10.1016/j.ajog.2019.11.915Test
https://api.elsevier.com/content/article/PII:S0002937819322859?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002937819322859?httpAccept=text/plainTest