المؤلفون: Rego, Shannon, Hoban, Hannah, Outram, Simon, Zamora, Astrid N, Chen, Flavia, Sahin-Hodoglugil, Nuriye, Anguiano, Beatriz, Norstad, Matthew, Yip, Tiffany, Lianoglou, Billie, Sparks, Teresa N, Norton, Mary E, Koenig, Barbara A, Slavotinek, Anne M, Ackerman, Sara L

المصدر: Genetics in Medicine. 24(6)

مصطلحات موضوعية: Biological Sciences, Genetics, Minority Health, Human Genome, Clinical Research, Behavioral and Social Science, Pediatric, Health Disparities, Child, Exome, Family, Female, Genome, Human, Genomics, Humans, Pregnancy, Exome Sequencing, Exome sequencing, Genome sequencing, Secondary findings, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/174592k3
https://escholarship.org/content/qt174592k3/qt174592k3.pdf

المؤلفون: Swanson, Kate, Sparks, Teresa N, Lianoglou, Billie R, Chen, Flavia, Downum, Sarah, Patel, Sachi, Rego, Shannon, Yip, Tiffany, Van Ziffle, Jessica, Koenig, Barbara A, Slavotinek, Anne M, Norton, Mary E

المصدر: Prenatal Diagnosis. 42(6)

مصطلحات موضوعية: Reproductive Medicine, Biomedical and Clinical Sciences, Clinical Sciences, Human Genome, Genetics, Clinical Research, Women's Health, Pediatric, Child, Cohort Studies, Exome, Family, Female, Humans, Parents, Pregnancy, Prenatal Diagnosis, Exome Sequencing, Paediatrics and Reproductive Medicine, Obstetrics & Reproductive Medicine, Clinical sciences, Reproductive medicine

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/89h179r4
https://escholarship.org/content/qt89h179r4/qt89h179r4.pdf

المؤلفون: Phillips, Kathryn A, Trosman, Julia R, Douglas, Michael P, Gelb, Bruce D, Ferket, Bart S, Hindorff, Lucia A, Slavotinek, Anne M, Berg, Jonathan S, Russell, Heidi V, Devine, Beth, Greve, Veronica, Smith, Hadley Stevens

المصدر: Genetics in Medicine. 24(1)

مصطلحات موضوعية: Biological Sciences, Genetics, Human Genome, Clinical Research, Good Health and Well Being, Base Sequence, Chromosome Mapping, Exome, Humans, Insurance Coverage, Exome Sequencing, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/40k972dj
https://escholarship.org/content/qt40k972dj/qt40k972dj.pdf

المؤلفون: Sparks, Teresa N, Lianoglou, Billie R, Adami, Rebecca R, Pluym, Ilina D, Holliman, Kerry, Duffy, Jennifer, Downum, Sarah L, Patel, Sachi, Faubel, Amanda, Boe, Nina M, Field, Nancy T, Murphy, Aisling, Laurent, Louise C, Jolley, Jennifer, Uy, Cherry, Slavotinek, Anne M, Devine, Patrick, Hodoglugil, Ugur, van Ziffle, Jessica, Sanders, Stephan J, MacKenzie, Tippi C, Norton, Mary E

المصدر: Obstetrical & Gynecological Survey. 76(3)

مصطلحات موضوعية: Paediatrics and Reproductive Medicine, Obstetrics & Reproductive Medicine

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2v62d0jg

المؤلفون: Slavotinek, Anne M., Thompson, Michelle L., Martin, Lisa J., Gelb, Bruce D.

المساهمون: National Human Genome Research Institute, National Institutes of Health

المصدر: Human Genetics and Genomics Advances ; volume 5, issue 3, page 100286 ; ISSN 2666-2477

الاتاحة: http://dx.doi.org/10.1016/j.xhgg.2024.100286
https://api.elsevier.com/content/article/PII:S2666247724000253?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2666247724000253?httpAccept=text/plain

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 JM, 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: American Journal of Human Genetics. 108(1)

مصطلحات موضوعية: Rare Diseases, Genetics, Cystic Fibrosis, Cystic Fibrosis Transmembrane Conductance Regulator, Genetic Diseases, Inborn, Genomics, Genotype, Humans, Mutation, Phenotype, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/14k5b9qx

المؤلفون: Islam, Farrah, Htun, Stephanie, Lai, Li‐Wen, Krall, Max, Poranki, Menitha, Martin, Pierre‐Marie, Sobreira, Nara, Wohler, Elizabeth S, Yu, Jingwei, Moore, Anthony T, Slavotinek, Anne M

المصدر: Clinical Genetics. 98(5)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Research, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Anophthalmos, Calcium-Binding Proteins, Cation Transport Proteins, Cell Adhesion Molecules, Coloboma, Consanguinity, Exome, Female, High-Throughput Nucleotide Sequencing, Humans, Kinesins, Male, Membrane Proteins, Microphthalmos, Mitochondrial Membrane Transport Proteins, Mutation, Nerve Tissue Proteins, Polymorphism, Single Nucleotide, Tumor Suppressor Proteins, Exome Sequencing, Anophthalmia, cataract, CDON, Microphthalmia, TENM3, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9pk8m065

المؤلفون: Sparks, Teresa N, Lianoglou, Billie R, Adami, Rebecca R, Pluym, Ilina D, Holliman, Kerry, Duffy, Jennifer, Downum, Sarah L, Patel, Sachi, Faubel, Amanda, Boe, Nina M, Field, Nancy T, Murphy, Aisling, Laurent, Louise C, Jolley, Jennifer, Uy, Cherry, Slavotinek, Anne M, Devine, Patrick, Hodoglugil, Ugur, Van Ziffle, Jessica, Sanders, Stephan J, MacKenzie, Tippi C, Norton, Mary E

المصدر: New England Journal of Medicine. 383(18)

مصطلحات موضوعية: Reproductive Medicine, Biomedical and Clinical Sciences, Health Sciences, Human Genome, Clinical Research, Genetic Testing, Precision Medicine, Pediatric, Genetics, Rare Diseases, 2.1 Biological and endogenous factors, Good Health and Well Being, Female, Genetic Variation, Humans, Hydrops Fetalis, Pregnancy, Prenatal Diagnosis, Prognosis, Exome Sequencing, University of California Fetal–Maternal Consortium, University of California, San Francisco Center for Maternal–Fetal Precision Medicine, Medical and Health Sciences, General & Internal Medicine, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1kf0c1jq
https://escholarship.org/content/qt1kf0c1jq/qt1kf0c1jq.pdf

المؤلفون: Mendelsohn, Bryce A, Beleford, Daniah T, Abu‐El‐Haija, Aya, Alsaleh, Norah S, Rahbeeni, Zuhair, Martin, Pierre‐Marie, Rego, Shannon, Huang, Alyssa, Capodanno, Gina, Shieh, Joseph T, Van Ziffle, Jessica, Risch, Neil, Alkuraya, Fowzan S, Slavotinek, Anne M

المصدر: American Journal of Medical Genetics Part A. 182(3)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Research, Congenital Structural Anomalies, Brain Disorders, Pediatric, Rare Diseases, 2.1 Biological and endogenous factors, Child, Child, Preschool, DNA-Binding Proteins, Female, Genetic Association Studies, Genetic Diseases, X-Linked, Genetic Predisposition to Disease, Humans, Male, Mutation, Trichothiodystrophy Syndromes, X Chromosome Inactivation, RNF113A, spliceosome, trichothiodystrophy, zinc finger, Clinical Sciences, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/17b4j483
https://escholarship.org/content/qt17b4j483/qt17b4j483.pdf

المؤلفون: Kanca, Oguz, Andrews, Jonathan C, Lee, Pei-Tseng, Patel, Chirag, Braddock, Stephen R, Slavotinek, Anne M, Cohen, Julie S, Gubbels, Cynthia S, Aldinger, Kimberly A, Williams, Judy, Indaram, Maanasa, Fatemi, Ali, Yu, Timothy W, Agrawal, Pankaj B, Vezina, Gilbert, Simons, Cas, Crawford, Joanna, Lau, C Christopher, Undiagnosed Diseases Network, Chung, Wendy K, Markello, Thomas C, Dobyns, William B, Adams, David R, Gahl, William A, Wangler, Michael F, Yamamoto, Shinya, Bellen, Hugo J, Malicdan, May Christine V

المصدر: American journal of human genetics. 105(2)

مصطلحات موضوعية: Undiagnosed Diseases Network, Cerebellum, Animals, Humans, Drosophila melanogaster, Epilepsy, Nervous System Malformations, Coloboma, Microfilament Proteins, Developmental Disabilities, Amino Acid Sequence, Sequence Homology, Phenotype, Mutation, Adult, Child, Infant, Infant, Newborn, Female, Male, Young Adult, Body Dysmorphic Disorders, Intellectual Disability, WD40 Repeats, CG12333, Drosophila, WD40 repeats, WDR37 domains, bang sensitivity, wdr37, Genetics, Pediatric, Rare Diseases, Congenital Structural Anomalies, Neurodegenerative, Neurosciences, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Aetiology, 2.1 Biological and endogenous factors, Neurological, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8wx8g9p6

المؤلفون: Johnston, Jennifer J, Williamson, Kathleen A, Chou, Christopher M, Sapp, Julie C, Ansari, Morad, Chapman, Heather M, Cooper, David N, Dabir, Tabib, Dudley, Jeffrey N, Holt, Richard J, Ragge, Nicola K, Schäffer, Alejandro A, Sen, Shurjo K, Slavotinek, Anne M, FitzPatrick, David R, Glaser, Thomas M, Stewart, Fiona, Black, Graeme Cm, Biesecker, Leslie G

المصدر: Journal of Medical Genetics. 56(7)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Rare Diseases, Human Genome, Pediatric, Clinical Research, 2.1 Biological and endogenous factors, Good Health and Well Being, 3' Untranslated Regions, Alleles, Anophthalmos, Female, Genes, X-Linked, Genetic Association Studies, Genetic Predisposition to Disease, Genetic Variation, Genotype, Humans, Lod Score, Male, Microphthalmos, N-Terminal Acetyltransferase A, N-Terminal Acetyltransferase E, Pedigree, Poly A, Sequence Analysis, DNA, X Chromosome Inactivation, Naa10, polyadenylation signal, Medical and Health Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/86f7p7hr
https://escholarship.org/content/qt86f7p7hr/qt86f7p7hr.pdf

المؤلفون: Horowitz, Carol R, Orlando, Lori A, Slavotinek, Anne M, Peterson, Josh, Angelo, Frank, Biesecker, Barbara, Bonham, Vence L, Cameron, Linda D, Fullerton, Stephanie M, Gelb, Bruce D, Goddard, Katrina AB, Hailu, Benyam, Hart, Ragan, Hindorff, Lucia A, Jarvik, Gail P, Kaufman, Dave, Kenny, Eimear E, Knight, Sara J, Koenig, Barbara A, Korf, Bruce R, Madden, Ebony, McGuire, Amy L, Ou, Jeffrey, Wasserstein, Melissa P, Robinson, Mimsie, Leventhal, Howard, Sanderson, Saskia C

المصدر: American Journal of Human Genetics. 104(6)

مصطلحات موضوعية: Health Services and Systems, Health Sciences, Genetics, Biological Sciences, Biotechnology, Human Genome, Prevention, Good Health and Well Being, Biomedical Research, Delivery of Health Care, Integrated, Genetics, Medical, Genomics, Humans, Models, Theoretical, Precision Medicine, Rare Diseases, Research Design, conceptual, diversity, framework, genomics, implementation, model, translational research, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3mj9f0td
https://escholarship.org/content/qt3mj9f0td/qt3mj9f0td.pdf

المؤلفون: Douglas, Michael P, Parker, Stephanie L, Trosman, Julia R, Slavotinek, Anne M, Phillips, Kathryn A

المصدر: Genetics in Medicine. 21(1)

مصطلحات موضوعية: Biological Sciences, Genetics, Pediatric, Good Health and Well Being, Child, Cost-Benefit Analysis, Exome, Humans, Insurance Coverage, Neurodevelopmental Disorders, Exome Sequencing, exome sequencing, Payer coverage policies, Pediatrics, Neurodevelopmental delay, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3s02q2bf
https://escholarship.org/content/qt3s02q2bf/qt3s02q2bf.pdf

المؤلفون: Amendola, Laura M, Berg, Jonathan S, Horowitz, Carol R, Angelo, Frank, Bensen, Jeannette T, Biesecker, Barbara B, Biesecker, Leslie G, Cooper, Gregory M, East, Kelly, Filipski, Kelly, Fullerton, Stephanie M, Gelb, Bruce D, Goddard, Katrina AB, Hailu, Benyam, Hart, Ragan, Hassmiller-Lich, Kristen, Joseph, Galen, Kenny, Eimear E, Koenig, Barbara A, Knight, Sara, Kwok, Pui-Yan, Lewis, Katie L, McGuire, Amy L, Norton, Mary E, Ou, Jeffrey, Parsons, Donald W, Powell, Bradford C, Risch, Neil, Robinson, Mimsie, Rini, Christine, Scollon, Sarah, Slavotinek, Anne M, Veenstra, David L, Wasserstein, Melissa P, Wilfond, Benjamin S, Hindorff, Lucia A, consortium, CSER, Plon, Sharon E, Jarvik, Gail P

المصدر: American Journal of Human Genetics. 103(3)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Health Services and Systems, Health Sciences, Clinical Sciences, Human Genome, Precision Medicine, Health Services, Biotechnology, Clinical Trials and Supportive Activities, Clinical Research, Generic health relevance, Good Health and Well Being, Adult, Cost-Benefit Analysis, Delivery of Health Care, Europe, Exome, Genome, Human, Genomics, Humans, National Human Genome Research Institute (U.S.), Phenotype, United States, Whole Genome Sequencing, CSER consortium, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5463d72d
https://escholarship.org/content/qt5463d72d/qt5463d72d.pdf

المؤلفون: Oatts, Julius T, Duncan, Jacque L, Hoyt, Creig S, Slavotinek, Anne M, Moore, Anthony T

المصدر: Ophthalmic genetics. 38(6)

مصطلحات موضوعية: Humans, Microcephaly, Nystagmus, Pathologic, Esotropia, Nuclear Proteins, Electroretinography, Developmental Disabilities, Frameshift Mutation, Mutation, Missense, Infant, Female, Retinal Dystrophies, High-Throughput Nucleotide Sequencing, BRAT1, electroretinography, retinal dystrophy, Nystagmus, Pathologic, Mutation, Missense, Brain Disorders, Rare Diseases, Intellectual and Developmental Disabilities, Neurosciences, Clinical Research, Neurodegenerative, Genetics, Eye Disease and Disorders of Vision, 2.1 Biological and endogenous factors, Eye, Ophthalmology & Optometry, Opthalmology and Optometry

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4k87h56m

المؤلفون: Kuo, Debbie S, Sokol, Jared T, Minogue, Peter J, Berthoud, Viviana M, Slavotinek, Anne M, Beyer, Eric C, Gould, Douglas B

المصدر: PLOS ONE. 12(8)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Ophthalmology and Optometry, Congenital Structural Anomalies, Aging, Pediatric, Human Genome, Eye Disease and Disorders of Vision, 2.1 Biological and endogenous factors, Eye, Amino Acid Sequence, Cataract, Connexins, Female, Genetic Predisposition to Disease, HeLa Cells, Humans, Male, Mutation, Missense, Sequence Homology, Amino Acid, Hela Cells, General Science & Technology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5x99q7m4
https://escholarship.org/content/qt5x99q7m4/qt5x99q7m4.pdf

المؤلفون: Lamont, Ryan E, Tan, Wen-Hann, Innes, A Micheil, Parboosingh, Jillian S, Schneidman-Duhovny, Dina, Rajkovic, Aleksandar, Pappas, John, Altschwager, Pablo, DeWard, Stephanie, Fulton, Anne, Gray, Kathryn J, Krall, Max, Mehta, Lakshmi, Rodan, Lance H, Saller, Devereux N, Steele, Deanna, Stein, Deborah, Yatsenko, Svetlana A, Bernier, François P, Slavotinek, Anne M

المصدر: European Journal of Human Genetics. 24(10)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Kidney Disease, Clinical Research, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Renal and urogenital, Adaptor Proteins, Signal Transducing, Carrier Proteins, Cytoskeletal Proteins, Female, Genotype, Humans, Hydrocephalus, Infant, Intracellular Signaling Peptides and Proteins, Male, Membrane Proteins, Mutation, Nephrosis, Pedigree, Phenotype, Proteins, Syndrome, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2qk9t640

المؤلفون: Dias, Kerith-Raie, Carlston, Colleen M., Blok, Laura E., De Hayr, Lachlan, Nawaz, Urwah, Evans, Carey-Anne, Bayrak-Toydemir, Pinar, Htun, Stephanie, Zhu, Ying, Ma, Alan, Lynch, Sally A., Moorwood, Catherine, Stals, Karen, Ellard, Sian, Bainbridge, Matthew N., Friedman, Jennifer, Pappas, John G., Rabin, Rachel, Nowak, Catherine B., Douglas, Jessica, Wilson, Theodore E., Guillen Sacoto, Maria J., Mullegama, Sureni V., Palculict, Timothy B., Kirk, Edwin P., Pinner, Jason, Edwards, Matthew (R16367), Montanari, Francesca, Graziano, Claudio, Pippucci, Tommaso, Dingmann, Bri, Glass, Ian, Mefford, Heather C., Shimoji, Takeyoshi, Suzuki, Toshimitsu, Yamakawa, Kazuhiro, Streff, Haley, Schaaf, Christian P., Slavotinek, Anne M., Voineagu, Irina, Carey, John C., Buckley, Michael F., Schenck, Annette, Harvey, Robert J., Roscioli, Tony

مصطلحات موضوعية: 320213 - Medical genetics (excl. cancer genetics), 200101 - Diagnosis of human diseases and conditions

وصف الملف: print

Relation: NHMRC APP1117394; http://purl.org/au-research/grants/nhmrc/1117394; Genetics in Medicine--1098-3600--1530-0366 Vol. 24 Issue. 9 No. pp: 1952-1966

الاتاحة: https://doi.org/10.1016/j.gim.2022.06.001
https://hdl.handle.net/1959.7/uws:69527

المؤلفون: Riedhammer, Korbinian, M, Burgemeister, Anna, L, Amiel, Jeanne, Cantagrel, Vincent, Siquier-Pernet, Karine, Boddaert, Nathalie, Hertecant, Jozef, Kannouche, Patricia, L, Pouvelle, Caroline, Htun, Stephanie, Slavotinek, Anne, M, Diego-Alvarez, Dan, Beetz, Christian, Kampe, Kapil, Fleischer, Nicole, Awamleh, Zain, Weksberg, Rosanna, Meitinger, Thomas, Kopajtich, Robert, Suleiman, Jehan, El-Hattab, Ayman, W

المساهمون: Technische Universität Munchen - Technical University Munich - Université Technique de Munich (TUM), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Intégrité du génome et cancers (IGC), École Pratique des Hautes Études (EPHE), Université Paris Sciences et Lettres (PSL)-Université Paris Sciences et Lettres (PSL)-Institut Gustave Roussy (IGR)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), Université Paris-Saclay, Institut Gustave Roussy (IGR), ANR-16-CE12-0005,SCD-Mec,Mécanismes développementaux des anomalies structurelles cérébelleuses(2016)

المصدر: ISSN: 0964-6906.

مصطلحات موضوعية: [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.BDD.EO]Life Sciences [q-bio]/Development Biology/Embryology and Organogenesis

Relation: hal-03853581; https://hal.science/hal-03853581; https://hal.science/hal-03853581/document; https://hal.science/hal-03853581/file/Depot%20HAL%20%281%29.pdf

الاتاحة: https://hal.science/hal-03853581
https://hal.science/hal-03853581/document
https://hal.science/hal-03853581/file/Depot%20HAL%20%281%29.pdf
https://doi.org/10.1093/hmg/ddac098

المؤلفون: Dias, Kerith-Rae, Carlston, Colleen M., Blok, Laura E. R., De Hayr , Lachlan, Nawaz, Urwah, Evans, Carey-Anne, Bayrak-Toydemir, Pinar, Htun, Stephanie, Zhu, Ying, Ma, Alan, Lynch, Sally Ann, Moorwood, Catherine, Stals , Karen, Ellard, Sian, Bainbridge, Matthew N., Friedman, Jennifer, Pappas, John G., Rabin , Rachel, Nowak, Catherine B., Douglas, Jessica, Wilson, Theodore E., Guillen Sacoto, Maria J., Mullegama, Sureni V., Palculict , Timothy Blake, Kirk, Edwin P., Pinner, Jason R., Edwards, Matthew, Montanari, Francesca, Graziano, Claudio, Pippucci, Tommaso, Dingmann, Bri, Glass , Ian, Mefford , Heather C., Shimoji , Takeyoshi, Suzuki, Toshimitsu, Yamakawa, Kazuhiro, Streff, Haley, Schaaf, Christian P., Slavotinek, Anne M., Voineagu , Irina, Carey, John C., Buckley, Michael F., Schenck, Annette, Harvey, Robert J., Roscioli , Tony

المساهمون: Medical and Molecular Genetics, School of Medicine

المصدر: Publisher

مصطلحات موضوعية: Developmental delay, Intellectual disability, Protein hub, Zinc finger MYND domain-containing protein 8, ZMYND8

وصف الملف: application/pdf

Relation: Genetics in Medicine; Dias, K.-R., Carlston, C. M., Blok, L. E. R., De Hayr, L., Nawaz, U., Evans, C.-A., Bayrak-Toydemir, P., Htun, S., Zhu, Y., Ma, A., Lynch, S. A., Moorwood, C., Stals, K., Ellard, S., Bainbridge, M. N., Friedman, J., Pappas, J. G., Rabin, R., Nowak, C. B., … Roscioli, T. (2022). De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations. Genetics in Medicine, 24(9), 1952–1966. https://doi.org/10.1016/j.gim.2022.06.001; https://hdl.handle.net/1805/41415

الاتاحة: https://hdl.handle.net/1805/41415