المؤلفون: Yabumoto, Megan, Kianmahd, Jessica, Singh, Meghna, Palafox, Maria F, Wei, Angela, Elliott, Kathryn, Goodloe, Dana H, Dean, S Joy, Gooch, Catherine, Murray, Brianna K, Swartz, Erin, Vergano, Samantha A Schrier, Towne, Meghan C, Nugent, Kimberly, Roeder, Elizabeth R, Kresge, Christina, Pletcher, Beth A, Grand, Katheryn, Graham, John M, Gates, Ryan, Gomez‐Ospina, Natalia, Ramanathan, Subhadra, Clark, Robin Dawn, Glaser, Kimberly, Benke, Paul J, Cohen, Julie S, Fatemi, Ali, Mu, Weiyi, Baranano, Kristin W, Madden, Jill A, Gubbels, Cynthia S, Yu, Timothy W, Agrawal, Pankaj B, Chambers, Mary‐Kathryn, Phornphutkul, Chanika, Pugh, John A, Tauber, Kate A, Azova, Svetlana, Smith, Jessica R, O’Donnell‐Luria, Anne, Medsker, Hannah, Srivastava, Siddharth, Krakow, Deborah, Schweitzer, Daniela N, Arboleda, Valerie A

المصدر: Molecular Genetics & Genomic Medicine. 9(10)

مصطلحات موضوعية: Biological Sciences, Genetics, Brain Disorders, Congenital Structural Anomalies, Clinical Research, Pediatric, Intellectual and Developmental Disabilities (IDD), Rare Diseases, Genetic Testing, Aetiology, 2.1 Biological and endogenous factors, Congenital, Abnormalities, Multiple, Alleles, Blepharophimosis, Cohort Studies, Congenital Hypothyroidism, Craniofacial Abnormalities, Facies, Genetic Association Studies, Genetic Counseling, Genetic Loci, Genetic Predisposition to Disease, Genotype, Heart Defects, Congenital, Histone Acetyltransferases, Humans, Intellectual Disability, Joint Instability, Kidney, Male, Mutation, Patella, Phenotype, Psychomotor Disorders, Scrotum, Urogenital Abnormalities, CRISPR, Genitopatellar syndrome, KAT6B-related disorders, phenotypic spectrum, Say-Barber-Biesecker-Young-Simpson syndrome, variable expressivity, rare genetic diagnosis, variable expressivity, rare genetic diagnosis, Medicinal and Biomolecular Chemistry, Clinical Sciences, Medicinal and biomolecular chemistry

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/9ct9z1smTest

المؤلفون: Fliedner, Anna, Kirchner, Philipp, Wiesener, Antje, van de Beek, Irma, Waisfisz, Quinten, van Haelst, Mieke, Scott, Daryl A, Lalani, Seema R, Rosenfeld, Jill A, Azamian, Mahshid S, Xia, Fan, Dutra-Clarke, Marina, Martinez-Agosto, Julian A, Lee, Hane, Center, UCLA Clinical Genomics, Nelson, Stanley F, Grody, Wayne W, Deignan, Joshua L, Kang, Sung-Hae, Arboleda, Valerie A, Senaratne, T Niroshi, Dorrani, Naghmeh, Dutra-Clarke, Marina S, Kianmahd, Jessica, Hinkamp, Franceska L, Neustadt, Ahna M, Fogel, Brent L, Quintero-Rivera, Fabiola, Noh, Grace J, Lippa, Natalie, Alkelai, Anna, Aggarwal, Vimla, Agre, Katherine E, Gavrilova, Ralitza, Mirzaa, Ghayda M, Straussberg, Rachel, Cohen, Rony, Horist, Brooke, Krishnamurthy, Vidya, McWalter, Kirsty, Juusola, Jane, Davis-Keppen, Laura, Ohden, Lisa, van Slegtenhorst, Marjon, de Man, Stella A, Ekici, Arif B, Gregor, Anne, van de Laar, Ingrid, Zweier, Christiane

المصدر: American Journal of Human Genetics. 107(3)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Brain Disorders, Clinical Research, Intellectual and Developmental Disabilities (IDD), Human Genome, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Animals, Child, Drosophila melanogaster, Female, Gene Knockdown Techniques, Genetic Variation, Heterozygote, Humans, Intellectual Disability, Locomotion, Male, Mutation, Neurodevelopmental Disorders, RNA Polymerase II, RNA Processing, Post-Transcriptional, RNA, Messenger, Seizures, Serine-Arginine Splicing Factors, Exome Sequencing, UCLA Clinical Genomics Center, SCAF4, epilepsy, intellectual disability, mRNA processing, neurodevelopmental disorder, seizures, 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/6pn9k34cTest

المؤلفون: Crane, Jacquelyn N, Chang, Vivian Y, Yong, William H, Salamon, Noriko, Center, Hane Lee for UCLA Clinical Genomics, Kianmahd, Jessica, Dorrani, Naghmeh, Martinez‐Agosto, Julian A, Davidson, Tom B

المصدر: Pediatric Blood & Cancer. 67(3)

مصطلحات موضوعية: Paediatrics, Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Cerebellar Neoplasms, Chromogranins, Female, GTP-Binding Protein alpha Subunits, Gs, Germ-Line Mutation, Hedgehog Proteins, Humans, Infant, Male, Medulloblastoma, Pedigree, Prognosis, Hane Lee for UCLA Clinical Genomics Center, Clinical Sciences, Paediatrics and Reproductive Medicine, Oncology & Carcinogenesis, Oncology and carcinogenesis

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/02t2b4x9Test

المؤلفون: Tung, Irene, Li, James J, Meza, Jocelyn I, Jezior, Kristen L, Kianmahd, Jessica SV, Hentschel, Patrick G, O’Neil, Paul M, Lee, Steve S

المصدر: Pediatrics. 138(4)

مصطلحات موضوعية: Clinical and Health Psychology, Psychology, Mental Health, Brain Disorders, Behavioral and Social Science, Pediatric, Attention Deficit Hyperactivity Disorder (ADHD), Violence Research, Youth Violence, Depression, Clinical Research, Aetiology, 2.3 Psychological, social and economic factors, Mental health, Good Health and Well Being, Adolescent, Attention Deficit Disorder with Hyperactivity, Child, Comorbidity, Diagnostic and Statistical Manual of Mental Disorders, Female, Humans, Mental Disorders, Psychopathology, Medical and Health Sciences, Psychology and Cognitive Sciences, Pediatrics, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/77f9f0j3Test

المؤلفون: Hitch, Kelly, Joseph, Galen, Guiltinan, Jenna, Kianmahd, Jessica, Youngblom, Janey, Blanco, Amie

المصدر: Journal of Genetic Counseling. 23(4)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Clinical Research, Digestive Diseases, Human Genome, Pediatric, Genetics, 7.1 Individual care needs, Management of diseases and conditions, Adolescent, Adult, Aged, Aged, 80 and over, Colorectal Neoplasms, Hereditary Nonpolyposis, Exome, Female, Genetic Counseling, Genetic Testing, Humans, Male, Middle Aged, Patient Preference, Sequence Analysis, Young Adult, Whole exome sequencing, Patient preferences, Return of results, Genetic counseling practice, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/9737t641Test

المؤلفون: Usmani, Muhammad A., Ahmed, Zubair M., Magini, Pamela, Pienkowski, Victor Murcia, Rasmussen, Kristen J., Hernan, Rebecca, Rasheed, Faiza, Hussain, Mureed, Shahzad, Mohsin, Lanpher, Brendan C., Niu, Zhiyv, Lim, Foong Yen, Pippucci, Tommaso, Ploski, Rafal, Kraus, Verena, Matuszewska, Karolina, Palombo, Flavia, Kianmahd, Jessica, Martinez-Agosto, Julian A., Lee, Hane, Colao, Emma, Motazacker, M. Mahdi, Brigatti, Karlla W., Puffenberger, Erik G., Riazuddin, S. Amer, Gonzaga-Jauregui, Claudia, Chung, Wendy K., Wagner, Matias, Schultz, Matthew J., Seri, Marco, Kievit, Anneke J.A., Perrotti, Nicola, Wassink-Ruiter, J. S.Klein, van Bokhoven, Hans, Riazuddin, Sheikh, Riazuddin, Saima

المصدر: Usmani , M A , Ahmed , Z M , UCLA Clinical Genomics Center , Magini , P , Pienkowski , V M , Rasmussen , K J , Hernan , R , Rasheed , F , Hussain , M , Shahzad , M , Lanpher , B C , Niu , Z , Lim , F Y , Pippucci , T , Ploski , R , Kraus , V , Matuszewska , K , Palombo , F , Kianmahd , J , Martinez-Agosto , J A , Lee , H , Colao , E , Motazacker , M ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, SDG 3 - Good Health and Well-being

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.05.007Test
https://pure.eur.nl/en/publications/09c89b89-5466-41f2-bcbb-8dacee99b176Test
http://www.scopus.com/inward/record.url?scp=85108892721&partnerID=8YFLogxKTest
http://www.cell.com/article/S0002929721001919/pdfTest

المؤلفون: Eno, Celeste C., Graakjaer, Jesper, Svaneby, Dea, Nizon, Mathilde, Kianmahd, Jessica, Signer, Rebecca, Martinez-Agosto, Julian A., Quintero-Rivera, Fabiola

المصدر: Eno , C C , Graakjaer , J , Svaneby , D , Nizon , M , Kianmahd , J , Signer , R , Martinez-Agosto , J A & Quintero-Rivera , F 2021 , ' 14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5 : A new potential cause of developmental and language delay in three unrelated patients ' , American Journal of Medical Genetics Part A , vol. 185 , no. 5 , pp. 1519-1524 . https://doi.org/10.1002/ajmg.a.62117Test

مصطلحات موضوعية: CALM1, developmental delay, microdeletion 14q32.11, PSMC1, RPS6KA5, TTC7B

وصف الملف: application/pdf

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/e39f6c72-7725-43de-91c1-611c4e984824Test

الإتاحة: https://doi.org/10.1002/ajmg.a.62117Test
https://portal.findresearcher.sdu.dk/da/publications/e39f6c72-7725-43de-91c1-611c4e984824Test
https://findresearcher.sdu.dk/ws/files/181861926/ajmg.a.62117.pdfTest

المؤلفون: Schwan, Katharina, Youngblom, Janey, Weisiger, Kara, Kianmahd, Jessica, Waggoner, Rebecca, Fanos, Joanna H.

المصدر: Institute on Disability

مصطلحات موضوعية: X-linked adrenoleukodystrophy, ALD, newborn screening, NBS, California, family

وصف الملف: application/pdf

العلاقة: https://scholars.unh.edu/iod/159Test; https://scholars.unh.edu/cgi/viewcontent.cgi?article=1158&context=iodTest

الإتاحة: https://scholars.unh.edu/iod/159Test
https://scholars.unh.edu/cgi/viewcontent.cgi?article=1158&context=iodTest

المؤلفون: Crane, Jacquelyn, Chang, Vivian, Lee, Hane, Yong, William, Salamon, Noriko, Kianmahd, Jessica, Dorrani, Naghmeh, Martinez-Agosto, Julian, Davidson, Tom

المصدر: Neuro-Oncology ; volume 20, issue suppl_6, page vi163-vi163 ; ISSN 1522-8517 1523-5866

مصطلحات موضوعية: Cancer Research, Neurology (clinical), Oncology

الإتاحة: https://doi.org/10.1093/neuonc/noy148.679Test
http://academic.oup.com/neuro-oncology/article-pdf/20/suppl_6/vi163/26280411/noy148.679.pdfTest

المؤلفون: Crane, Jacquelyn N., Chang, Vivian Y., Yong, William H., Salamon, Noriko, Lee, Hane, Kianmahd, Jessica, Dorrani, Naghmeh, Martinez-Agosto, Julian A., Davidson, Tom B.

المصدر: Pediatr Blood Cancer

مصطلحات موضوعية: Medulloblastoma, biology, business.industry, GTP-Binding Protein alpha Subunits, Hematology, medicine.disease, Germline, Article, Germline mutation, Oncology, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), biology.protein, Cancer research, medicine, GNAS complex locus, Sonic hedgehog, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca80db1e8f8386f00652469c14b11becTest
https://europepmc.org/articles/PMC7307637Test/