المؤلفون: Fasham, James, Arno, Gavin, Lin, Siying, Xu, Mingchu, Carss, Keren J, Hull, Sarah, Lane, Amelia, Robson, Anthony G, Wenger, Olivia, Self, Jay E, Harlalka, Gaurav V, Salter, Claire G, Schema, Lynn, Moss, Timothy J, Cheetham, Michael E, Moore, Anthony T, Raymond, F Lucy, Chen, Rui, Baple, Emma L, Webster, Andrew R, Crosby, Andrew H, Consortium, NIHR Bioresource Rare Diseases

المصدر: American Journal of Medical Genetics Part A. 179(8)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Clinical Sciences, Genetics, Adolescent, Adult, Carrier Proteins, Child, Consanguinity, DNA Mutational Analysis, Female, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Mutation, Pedigree, Phenotype, Young Adult, Brachydactyly, CCNA2-CDK2, Intellectual disability, Retinitis pigmentosa, SCAPER, NIHR Bioresource Rare Diseases Consortium, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/28q3v47sTest

المؤلفون: Guissart, Claire, Latypova, Xenia, Rollier, Paul, Khan, Tahir N, Stamberger, Hannah, McWalter, Kirsty, Cho, Megan T, Kjaergaard, Susanne, Weckhuysen, Sarah, Lesca, Gaetan, Besnard, Thomas, Õunap, Katrin, Schema, Lynn, Chiocchetti, Andreas G, McDonald, Marie, de Bellescize, Julitta, Vincent, Marie, Van Esch, Hilde, Sattler, Shannon, Forghani, Irman, Thiffault, Isabelle, Freitag, Christine M, Barbouth, Deborah Sara, Cadieux-Dion, Maxime, Willaert, Rebecca, Sacoto, Maria J Guillen, Safina, Nicole P, Dubourg, Christèle, Grote, Lauren, Carré, Wilfrid, Saunders, Carol, Pajusalu, Sander, Farrow, Emily, Boland, Anne, Karlowicz, Danielle Hays, Deleuze, Jean-François, Wojcik, Monica H, Pressman, Rena, Isidor, Bertrand, Vogels, Annick, Van Paesschen, Wim, Al-Gazali, Lihadh, Shamsi, Aisha Mohamed Al, Claustres, Mireille, Pujol, Aurora, Sanders, Stephan J, Rivier, François, Leboucq, Nicolas, Cogné, Benjamin, Sasorith, Souphatta, Sanlaville, Damien, Retterer, Kyle, Odent, Sylvie, Katsanis, Nicholas, Bézieau, Stéphane, Koenig, Michel, Davis, Erica E, Pasquier, Laurent, Küry, Sébastien

المصدر: American Journal of Human Genetics. 102(5)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Intellectual and Developmental Disabilities (IDD), Neurodegenerative, Neurosciences, Pediatric, Rare Diseases, Brain Disorders, Autism, Mental Health, 2.1 Biological and endogenous factors, Aetiology, Neurological, Adolescent, Adult, Aged, 80 and over, Alleles, Animals, Autistic Disorder, Brain, Cerebellar Ataxia, Child, Child, Preschool, DNA Copy Number Variations, Disease Models, Animal, Female, Genes, Dominant, Genetic Complementation Test, Humans, Intellectual Disability, Larva, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Missense, Nuclear Receptor Subfamily 1, Group F, Member 1, Purkinje Cells, Syndrome, Zebrafish, RORA, autistic features, cerebellar ataxia, dual molecular effects, epilepsy, intellectual disability, neurodevelopmental disorder, 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/7rq0h7ddTest

المؤلفون: Langenfeld, Adam, Schema, Lynn, Eckerle, Judith K.

المصدر: Journal of Medical Case Reports ; volume 15, issue 1 ; ISSN 1752-1947

مصطلحات موضوعية: General Medicine

الإتاحة: https://doi.org/10.1186/s13256-020-02590-8Test

المؤلفون: Jarnes Utz, Jeanine R., Kim, Sarah, King, Kelly, Ziegler, Richard, Schema, Lynn, Redtree, Evelyn S., Whitley, Chester B.

المساهمون: National Institutes of Health

المصدر: Molecular Genetics and Metabolism ; volume 121, issue 2, page 170-179 ; ISSN 1096-7192

مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1016/j.ymgme.2017.04.011Test
https://api.elsevier.com/content/article/PII:S1096719217301129?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719217301129?httpAccept=text/plainTest

المؤلفون: Keppers, Rachel, McCarthy Veach, Patricia, Schema, Lynn, LeRoy, Bonnie S., MacFarlane, Ian M.

المصدر: Journal of Genetic Counseling ; volume 31, issue 2, page 398-410 ; ISSN 1059-7700 1573-3599

الإتاحة: https://doi.org/10.1002/jgc4.1505Test

المؤلفون: Aggarwal, Anjali, Pillai, Nishitha R., Billington, Charles J., Schema, Lynn, Berry, Susan A.

المصدر: American Journal of Medical Genetics Part A ; volume 188, issue 4, page 1239-1244 ; ISSN 1552-4825 1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.62608Test

المؤلفون: Kashmola‐Perez, Iman, McCarthy Veach, Patricia, Schema, Lynn, Redlinger‐Grosse, Krista

المصدر: Journal of Genetic Counseling ; volume 30, issue 6, page 1598-1612 ; ISSN 1059-7700 1573-3599

الإتاحة: https://doi.org/10.1002/jgc4.1426Test

المؤلفون: Pillai, Nishitha, Aggarwal, Anjali, Schema, Lynn, Billington Jr., Charles, Berry, Susan

المصدر: Molecular Genetics and Metabolism ; volume 132, page S27-S28 ; ISSN 1096-7192

مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1016/s1096-7192Test(21)00126-8
https://api.elsevier.com/content/article/PII:S1096719221001268?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719221001268?httpAccept=text/plainTest

المؤلفون: Keppers, Rachel, McCarthy Veach, Patricia, Schema, Lynn, LeRoy, Bonnie S., MacFarlane, Ian M.

المصدر: Journal of Genetic Counseling; Apr2022, Vol. 31 Issue 2, p398-410, 13p

المؤلفون: Aggarwal, Anjali, Pillai, Nishitha R., Billington, Charles J., Schema, Lynn, Berry, Susan A.

المصدر: American Journal of Medical Genetics. Part A; Apr2022, Vol. 188 Issue 4, p1239-1244, 6p