المؤلفون: Leon, Eyby

المصدر: Genetics in Medicine Open ; volume 2, page 101267 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2024.101267Test
https://api.elsevier.com/content/article/PII:S2949774424004138?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774424004138?httpAccept=text/plainTest

المؤلفون: Keppler-Noreuil, Kim, Luu, Sharon, Furuya, Katryn, Berger, Seth, Leon, Eyby

المصدر: Genetics in Medicine Open ; volume 2, page 101143 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2024.101143Test
https://api.elsevier.com/content/article/PII:S2949774424002899?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774424002899?httpAccept=text/plainTest

المؤلفون: Chai, Guoliang, Webb, Alice, Li, Chen, Antaki, Danny, Lee, Sangmoon, Breuss, Martin W, Lang, Nhi, Stanley, Valentina, Anzenberg, Paula, Yang, Xiaoxu, Marshall, Trevor, Gaffney, Patrick, Wierenga, Klaas J, Chung, Brian Hon-Yin, Tsang, Mandy Ho-Yin, Pais, Lynn S, Lovgren, Alysia Kern, VanNoy, Grace E, Rehm, Heidi L, Mirzaa, Ghayda, Leon, Eyby, Diaz, Jullianne, Neumann, Alexander, Kalverda, Arnout P, Manfield, Iain W, Parry, David A, Logan, Clare V, Johnson, Colin A, Bonthron, David T, Valleley, Elizabeth MA, Issa, Mahmoud Y, Abdel-Ghafar, Sherif F, Abdel-Hamid, Mohamed S, Jennings, Patricia, Zaki, Maha S, Sheridan, Eamonn, Gleeson, Joseph G

المصدر: Neuron. 109(2)

مصطلحات موضوعية: Biological Psychology, Biomedical and Clinical Sciences, Neurosciences, Psychology, Rare Diseases, Genetics, Neurodegenerative, Brain Disorders, Orphan Drug, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Neurological, Amino Acid Sequence, Animals, Cell Cycle Proteins, Cerebellar Diseases, Cohort Studies, Female, Gene Knockout Techniques, HEK293 Cells, Heredodegenerative Disorders, Nervous System, Humans, Male, Mice, Mice, Inbred C57BL, Mice, Transgenic, Microcephaly, Mutation, Pedigree, Peptidylprolyl Isomerase, Protein Structure, Secondary, Protein Structure, Tertiary, RNA Splicing Factors, Spliceosomes, NMR, PCHM, PPIL1, PRP17, alternative splicing, brain development, cyclophilin, microcephaly, neurodegeneration, pontocerebellar hypoplasia, proline isomerase, recessive disease, spliceosome, Cognitive Sciences, Neurology & Neurosurgery, Biological psychology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6w53352fTest

المؤلفون: Dowsett, Leah, Porras, Antonio R, Kruszka, Paul, Davis, Brandon, Hu, Tommy, Honey, Engela, Badoe, Eben, Thong, Meow‐Keong, Leon, Eyby, Girisha, Katta M, Shukla, Anju, Nayak, Shalini S, Shotelersuk, Vorasuk, Megarbane, Andre, Phadke, Shubha, Sirisena, Nirmala D, Dissanayake, Vajira HW, Ferreira, Carlos R, Kisling, Monisha S, Tanpaiboon, Pranoot, Uwineza, Annette, Mutesa, Leon, Tekendo‐Ngongang, Cedrik, Wonkam, Ambroise, Fieggen, Karen, Batista, Leticia Cassimiro, Moretti‐Ferreira, Danilo, Stevenson, Roger E, Prijoles, Eloise J, Everman, David, Clarkson, Kate, Worthington, Jessica, Kimonis, Virginia, Hisama, Fuki, Crowe, Carol, Wong, Paul, Johnson, Kisha, Clark, Robin D, Bird, Lynne, Masser‐Frye, Diane, McDonald, Marie, Willems, Patrick, Roeder, Elizabeth, Saitta, Sulgana, Anyane‐Yeoba, Kwame, Demmer, Laurie, Hamajima, Naoki, Stark, Zornitza, Gillies, Greta, Hudgins, Louanne, Dave, Usha, Shalev, Stavit, Siu, Victoria, Gupta, Neerja, Kabra, Madhulika, Ades, Ann, Dubbs, Holly, Raible, Sarah, Kaur, Maninder, Salzano, Emanuela, Jackson, Laird, Deardorff, Matthew, Kline, Antonie, Summar, Marshall, Muenke, Maximilian, Linguraru, Marius George, Krantz, Ian D

المصدر: American Journal of Medical Genetics Part A. 179(2)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Brain Disorders, Rare Diseases, Clinical Research, Intellectual and Developmental Disabilities (IDD), Pediatric, Neurosciences, Congenital, Abnormalities, Multiple, Adolescent, Adult, Cell Cycle Proteins, Child, Child, Preschool, Chondroitin Sulfate Proteoglycans, Chromosomal Proteins, Non-Histone, De Lange Syndrome, Face, Female, Humans, Image Processing, Computer-Assisted, Infant, Infant, Newborn, Intellectual Disability, Male, Mutation, Phenotype, Racial Groups, Young Adult, CdLS, Cornelia de Lange syndrome, diverse populations, facial analysis technology, NIPBL, underrepresented minorities, Clinical Sciences, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6w35196fTest

المؤلفون: Leon, Eyby, Gomez-Lobo, Veronica, Shimy, Kim, Monaghan, Maureen, Vilain, Eric, Casella, Daniel, Delot, Emmanuele

المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100255 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2023.100255Test
https://api.elsevier.com/content/article/PII:S2949774423002558?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774423002558?httpAccept=text/plainTest

المؤلفون: Leon, Eyby, Shur, Natasha, Chapman, Kimberly, Grant, Christina Lee, Fraser, Jamie, Regier, Debra, Vergano, Samantha, MacLeod, Erin, Starin, Danielle, Harmon, Jennifer, Laso, Maria Cristina

المصدر: Molecular Genetics and Metabolism ; volume 141, issue 4, page 108297 ; ISSN 1096-7192

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

الإتاحة: https://doi.org/10.1016/j.ymgme.2024.108297Test
https://api.elsevier.com/content/article/PII:S1096719224001823?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719224001823?httpAccept=text/plainTest

المؤلفون: Billington, Charles J., Chapman, Kimberly A., Leon, Eyby, Meltzer, Beatrix W., Berger, Seth I., Olson, Matthew, Figler, Robert A., Hoang, Steve A., Wanxing, Cui, Wamhoff, Brian R., Collado, M. Sol, Cusmano‐Ozog, Kristina

المصدر: American Journal of Medical Genetics Part A ; volume 188, issue 9, page 2738-2749 ; ISSN 1552-4825 1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.62893Test

المؤلفون: Bosfield, Kerri, Diaz, Jullianne, Leon, Eyby

المصدر: Molecular Syndromology ; volume 12, issue 3, page 159-168 ; ISSN 1661-8769 1661-8777

الإتاحة: https://doi.org/10.1159/000513453Test
https://www.karger.com/Article/Pdf/513453Test

المؤلفون: Leon, Eyby, Diaz, Jullianne, Castilla-Vallmanya, Laura, Grinberg Vaisman, Daniel Raúl, Balcells Comas, Susana, Urreizti, Roser

المصدر: Articles publicats en revistes (Genètica, Microbiologia i Estadística)

مصطلحات موضوعية: Malalties hereditàries, Mutació (Biologia), Mortalitat infantil, Genetic diseases, Mutation (Biology), Infant mortality

وصف الملف: 4 p.; application/pdf

العلاقة: Versió postprint del document publicat a: https://doi.org/10.1002/ajmg.a.61397Test; American Journal of Medical Genetics Part A, 2020, vol. 182, num. 1, p. 201-204; https://doi.org/10.1002/ajmg.a.61397Test; http://hdl.handle.net/2445/195119Test; 692482

الإتاحة: https://doi.org/10.1002/ajmg.a.61397Test
http://hdl.handle.net/2445/195119Test

المؤلفون: Alston, Charlotte L., Veling, Mike T., Heidler, Juliana, Taylor, Lucie S., Alaimo, Joseph T., Sung, Andrew Y., He, Langping, Hopton, Sila, Broomfield, Alexander, Pavaine, Julija, Diaz, Jullianne, Leon, Eyby, Wolf, Philipp, McFarland, Robert, Prokisch, Holger, Wortmann, Saskia B., Bonnen, Penelope E., Wittig, Ilka, Pagliarini, David J., Taylor, Robert W.

مصطلحات موضوعية: info:eu-repo/classification/ddc

وصف الملف: application/pdf

العلاقة: https://mediatum.ub.tum.de/1554243Test; https://mediatum.ub.tum.de/doc/1554243/document.pdfTest

الإتاحة: https://doi.org/10.1016/j.ajhg.2019.12.001Test
https://mediatum.ub.tum.de/1554243Test
https://mediatum.ub.tum.de/doc/1554243/document.pdfTest