المؤلفون: Lin, Isabella, Wei, Angela, Awamleh, Zain, Singh, Meghna, Ning, Aileen, Herrera, Analeyla, Biobank and Registry, REACH, Russell, Bianca E, Weksberg, Rosanna, Arboleda, Valerie A

المصدر: JCI Insight. 8(10)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Human Genome, Intellectual and Developmental Disabilities (IDD), Genetics, Rare Diseases, Clinical Research, Pediatric Research Initiative, Pediatric, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Humans, Intellectual Disability, Mutation, Epigenesis, Genetic, Multiomics, Wnt Signaling Pathway, Repressor Proteins, Transcription Factors, Kidney Neoplasms, REACH Biobank and Registry, Development, Epigenetics, Genetic diseases, Leukemias, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/3v79d9fxTest

المؤلفون: Awamleh, Zain, Chater-Diehl, Eric, Choufani, Sanaa, Wei, Elizabeth, Kianmahd, Rebecca R, Yu, Anna, Chad, Lauren, Costain, Gregory, Tan, Wen-Hann, Scherer, Stephen W, Arboleda, Valerie A, Russell, Bianca E, Weksberg, Rosanna

المصدر: European Journal of Human Genetics. 30(6)

مصطلحات موضوعية: Human Genome, Genetics, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Good Health and Well Being, Animals, Craniosynostoses, DNA Methylation, Epigenesis, Genetic, Humans, Intellectual Disability, Mammals, Syndrome, Transcription Factors, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7431m0nzTest

المؤلفون: Awamleh, Zain, Choufani, Sanaa, Wu, Wendy, Rots, Dmitrijs, Dingemans, Alexander J. M., Nadif Khadri, Nael, Boronat, Susana, Ibañez-Mico, Salvador, Cuesta Herraiz, Laura, Ferrer, Irene, Martínez Carrascal, Antonio, Pérez-Jurado, Luis A., Aznar Lain, Gemma, Ortigoza-Escobar, Juan Dario, de Vries, Bert B. A., Koolen, David A., Weksberg, Rosanna

المساهمون: Gouvernement du Canada | Canadian Institutes of Health Research

المصدر: European Journal of Human Genetics ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/s41431-024-01538-6Test
https://www.nature.com/articles/s41431-024-01538-6.pdfTest
https://www.nature.com/articles/s41431-024-01538-6Test

المؤلفون: Awamleh, Zain, Choufani, Sanaa, Rots, Dmitrijs, Dingemans, Alexander, Ortigoza Escobar, Juan Dario, Koolen, David, de Vries, Bert, Weksberg, Rosanna

المصدر: Genetics in Medicine Open ; volume 2, page 101543 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2024.101543Test
https://api.elsevier.com/content/article/PII:S2949774424006897?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774424006897?httpAccept=text/plainTest

المؤلفون: Russell, Bianca, Sloan, Julia, Nariai, Hiroki, Ludwig, Natasha, Dickinson, Abigail, Awamleh, Zain, Weksberg, Rosanna, Lin, Isabella, Arboleda, Valerie, Tan, Wen-Hann

المصدر: Genetics in Medicine Open ; volume 2, page 101089 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2024.101089Test
https://api.elsevier.com/content/article/PII:S2949774424002358?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774424002358?httpAccept=text/plainTest

المؤلفون: Rots, Dmitrijs, Chater-Diehl, Eric, Dingemans, Alexander JM, Goodman, Sarah J, Siu, Michelle T, Cytrynbaum, Cheryl, Choufani, Sanaa, Hoang, Ny, Walker, Susan, Awamleh, Zain, Charkow, Joshua, Meyn, Stephen, Pfundt, Rolph, Rinne, Tuula, Gardeitchik, Thatjana, de Vries, Bert BA, Deden, A Chantal, Leenders, Erika, Kwint, Michael, Stumpel, Constance TRM, Stevens, Servi JC, Vermeulen, Jeroen R, van Harssel, Jeske VT, Bosch, Danielle GM, van Gassen, Koen LI, van Binsbergen, Ellen, de Geus, Christa M, Brackel, Hein, Hempel, Maja, Lessel, Davor, Denecke, Jonas, Slavotinek, Anne, Strober, Jonathan, Crunk, Amy, Folk, Leandra, Wentzensen, Ingrid M, Yang, Hui, Zou, Fanggeng, Millan, Francisca, Person, Richard, Xie, Yili, Liu, Shuxi, Ousager, Lilian B, Larsen, Martin, Schultz-Rogers, Laura, Morava, Eva, Klee, Eric W, Berry, Ian R, Campbell, Jennifer, Lindstrom, Kristin, Pruniski, Brianna, Neumeyer, Ann M, Radley, Jessica A, Phornphutkul, Chanika, Schmidt, Berkley, Wilson, William G, Õunap, Katrin, Reinson, Karit, Pajusalu, Sander, van Haeringen, Arie, Ruivenkamp, Claudia, Cuperus, Roos, Santos-Simarro, Fernando, Palomares-Bralo, María, Pacio-Míguez, Marta, Ritter, Alyssa, Bhoj, Elizabeth, Tønne, Elin, Tveten, Kristian, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Rowe, Leah, Bunn, Jason, Saenz, Margarita, Platzer, Konrad, Mertens, Mareike, Caluseriu, Oana, Nowaczyk, Małgorzata JM, Cohn, Ronald D, Kannu, Peter, Alkhunaizi, Ebba, Chitayat, David, Scherer, Stephen W, Brunner, Han G, Vissers, Lisenka ELM, Kleefstra, Tjitske, Koolen, David A, Weksberg, Rosanna

المصدر: American Journal of Human Genetics. 108(6)

مصطلحات موضوعية: Genetics, Clinical Research, Brain Disorders, Mental Health, Intellectual and Developmental Disabilities (IDD), Aetiology, 2.1 Biological and endogenous factors, Abnormalities, Multiple, Adenosine Triphosphatases, Case-Control Studies, Cohort Studies, Craniofacial Abnormalities, DNA Methylation, Epigenesis, Genetic, Female, Genetic Predisposition to Disease, Growth Disorders, Heart Septal Defects, Ventricular, Humans, Infant, Newborn, Male, Mutation, Neurodevelopmental Disorders, Phenotype, DNA methylation signature, Floating-Harbor syndrome, SRCAP, epigenomics, genotype-phenotype correlation, intellectual disability, neurodevelopmental disorders, non-FLHS SRCAP-related NDD, nonsense-mediated decay, speech delay, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/16q9g96pTest

المؤلفون: Awamleh, Zain, Goodman, Sarah, Choufani, Sanaa, Weksberg, Rosanna

المصدر: Human Genetics ; ISSN 0340-6717 1432-1203

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1007/s00439-023-02544-2Test

المؤلفون: Awamleh, Zain, Goodman, Sarah, Choufani, Sanaa, Weksberg, Rosanna

المصدر: Hum Genet ; ISSN:1432-1203 ; Volume:143 ; Issue:4

العلاقة: https://doi.org/10.1007/s00439-023-02544-2Test; https://pubmed.ncbi.nlm.nih.gov/37022461Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11078831Test/

الإتاحة: https://doi.org/10.1007/s00439-023-02544-2Test
https://pubmed.ncbi.nlm.nih.gov/37022461Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11078831Test/

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

العلاقة: hal-03853581; https://hal.science/hal-03853581Test; https://hal.science/hal-03853581/documentTest; https://hal.science/hal-03853581/file/Depot%20HAL%20%281%29.pdfTest

الإتاحة: https://doi.org/10.1093/hmg/ddac098Test
https://hal.science/hal-03853581Test
https://hal.science/hal-03853581/documentTest
https://hal.science/hal-03853581/file/Depot%20HAL%20%281%29.pdfTest

المؤلفون: Marwaha, Ashish, Costain, Gregory, Cytrynbaum, Cheryl, Mendoza‐Londono, Roberto, Chad, Lauren, Awamleh, Zain, Chater‐Diehl, Eric, Choufani, Sanaa, Weksberg, Rosanna

المساهمون: Canadian Institutes of Health Research

المصدر: American Journal of Medical Genetics Part A ; volume 188, issue 5, page 1368-1375 ; ISSN 1552-4825 1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.62650Test