المؤلفون: Schoch, Kelly, Meng, Linyan, Szelinger, Szabolcs, Bearden, David R, Stray-Pedersen, Asbjorg, Busk, Oyvind L, Stong, Nicholas, Liston, Eriskay, Cohn, Ronald D, Scaglia, Fernando, Rosenfeld, Jill A, Tarpinian, Jennifer, Skraban, Cara M, Deardorff, Matthew A, Friedman, Jeremy N, Akdemir, Zeynep Coban, Walley, Nicole, Mikati, Mohamad A, Kranz, Peter G, Jasien, Joan, McConkie-Rosell, Allyn, McDonald, Marie, Wechsler, Stephanie Burns, Freemark, Michael, Kansagra, Sujay, Freedman, Sharon, Bali, Deeksha, Millan, Francisca, Bale, Sherri, Nelson, Stanley F, Lee, Hane, Dorrani, Naghmeh, Goldstein, David B, Xiao, Rui, Yang, Yaping, Posey, Jennifer E, Martinez-Agosto, Julian A, Lupski, James R, Wangler, Michael F, Shashi, Vandana, Grody, Wayne W, Strom, Samuel P, Vilain, Eric, Deignan, Joshua, Quintero-Rivera, Fabiola, Kantarci, Sibel, Mullegama, Sureni, Kang, Sung-Hae, Alejandro, Mercedes E, Bacino, Carlos A, Balasubramanyam, Ashok, Burrage, Lindsay C, Clark, Gary D, Craigen, William J, Dhar, Shweta U, Emrick, Lisa T, Graham, Brett H, Hanchard, Neil A, Jain, Mahim, Lalani, Seema R, Lee, Brendan H, Lewis, Richard A, Mashid, Azamian S, Moretti, Paolo M, Nicholas, Sarah K, Orange, Jordan S, Potocki, Lorraine, Scott, Daryl A, Tran, Alyssa A, Bellen, Hugo J, Yamamoto, Shinya, Eng, Christine M, Muzny, Donna M, Ward, Patricia A, Gropman, Andrea L, Jiang, Yong-hui, Pena, Loren DM, Spillmann, Rebecca C, Sullivan, Jennifer A, Walley, Nicole M, Beggs, Alan H, Briere, Lauren C, Cooper, Cynthia M, Donnell-Fink, Laurel A, Krieg, Elizabeth L, Krier, Joel B, Lincoln, Sharyn A

المصدر: American Journal of Human Genetics. 100(2)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Neurosciences, Pediatric, Brain Disorders, Neurodegenerative, Epilepsy, Intellectual and Developmental Disabilities (IDD), Human Genome, 2.1 Biological and endogenous factors, Aetiology, Neurological, Alleles, Amino Acid Sequence, Brain, Cataract, Child, Child, Preschool, Female, Genetic Variation, Genome-Wide Association Study, Humans, Infant, Intellectual Disability, Magnetic Resonance Imaging, Male, Microcephaly, Mutation, Missense, Neoplasm Proteins, Pedigree, Phenotype, Repressor Proteins, Spasms, Infantile, UCLA Clinical Genomics Center, Undiagnosed Diseases Network, NACC1, cataracts, developmental/intellectual disabilities, epilepsy, irritability, microcephaly, stereotypy, whole-exome sequencing, 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/7290n3b3

المؤلفون: Ordulu, Zehra, Kammin, Tammy, Brand, Harrison, Pillalamarri, Vamsee, Redin, Claire E, Collins, Ryan L, Blumenthal, Ian, Hanscom, Carrie, Pereira, Shahrin, Bradley, India, Crandall, Barbara F, Gerrol, Pamela, Hayden, Mark A, Hussain, Naveed, Kanengisser-Pines, Bibi, Kantarci, Sibel, Levy, Brynn, Macera, Michael J, Quintero-Rivera, Fabiola, Spiegel, Erica, Stevens, Blair, Ulm, Janet E, Warburton, Dorothy, Wilkins-Haug, Louise E, Yachelevich, Naomi, Gusella, James F, Talkowski, Michael E, Morton, Cynthia C

المصدر: American Journal of Human Genetics. 99(5)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Genetic Testing, Pediatric, Human Genome, Clinical Research, Prevention, Biotechnology, Alleles, Chromosome Aberrations, Chromosome Mapping, Congenital Abnormalities, Female, Gene Expression Regulation, Gene Rearrangement, Genome, Human, Genomics, High-Throughput Nucleotide Sequencing, Humans, Karyotyping, Male, Nucleotides, Pregnancy, Prenatal Diagnosis, SOX9 Transcription Factor, Sequence Analysis, DNA, Translocation, Genetic, 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/89f8p1br

المؤلفون: Arboleda, Valerie A, Lee, Hane, Dorrani, Naghmeh, Zadeh, Neda, Willis, Mary, Macmurdo, Colleen Forsyth, Manning, Melanie A, Kwan, Andrea, Hudgins, Louanne, Barthelemy, Florian, Miceli, M Carrie, Quintero-Rivera, Fabiola, Kantarci, Sibel, Strom, Samuel P, Deignan, Joshua L, UCLA Clinical Genomics Center, Grody, Wayne W, Vilain, Eric, Nelson, Stanley F

المصدر: American journal of human genetics. 96(3)

مصطلحات موضوعية: UCLA Clinical Genomics Center, Humans, Microcephaly, Abnormalities, Multiple, Histones, Codon, Nonsense, Pedigree, Developmental Disabilities, Acetylation, Heterozygote, Mutation, Child, Preschool, Female, Male, Histone Acetyltransferases, Exome, Human Genome, Genetics, Rare Diseases, Congenital Structural Anomalies, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Congenital, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/80m7r988

المؤلفون: Lee, Hane, Deignan, Joshua L, Dorrani, Naghmeh, Strom, Samuel P, Kantarci, Sibel, Quintero-Rivera, Fabiola, Das, Kingshuk, Toy, Traci, Harry, Bret, Yourshaw, Michael, Fox, Michelle, Fogel, Brent L, Martinez-Agosto, Julian A, Wong, Derek A, Chang, Vivian Y, Shieh, Perry B, Palmer, Christina GS, Dipple, Katrina M, Grody, Wayne W, Vilain, Eric, Nelson, Stanley F

المصدر: JAMA. 312(18)

مصطلحات موضوعية: Pediatric, Human Genome, Clinical Research, Genetics, 4.1 Discovery and preclinical testing of markers and technologies, Detection, screening and diagnosis, 4.2 Evaluation of markers and technologies, Adolescent, Adult, Child, Child, Preschool, Developmental Disabilities, Exome, Female, Genetic Diseases, Inborn, Humans, Infant, Infant, Newborn, Male, Molecular Diagnostic Techniques, Mutation, Rare Diseases, Sequence Analysis, DNA, Medical and Health Sciences, General & Internal Medicine

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/33p363hs

المؤلفون: Fogel, Brent L, Lee, Hane, Deignan, Joshua L, Strom, Samuel P, Kantarci, Sibel, Wang, Xizhe, Quintero-Rivera, Fabiola, Vilain, Eric, Grody, Wayne W, Perlman, Susan, Geschwind, Daniel H, Nelson, Stanley F

المصدر: JAMA Neurology. 71(10)

مصطلحات موضوعية: Clinical Research, Brain Disorders, Genetic Testing, Neurosciences, Genetics, Rare Diseases, Neurodegenerative, Acquired Cognitive Impairment, Human Genome, 2.1 Biological and endogenous factors, Detection, screening and diagnosis, 4.1 Discovery and preclinical testing of markers and technologies, 4.2 Evaluation of markers and technologies, Aetiology, Neurological, Adolescent, Adult, Aged, Aged, 80 and over, Cerebellar Ataxia, Child, Child, Preschool, Cohort Studies, Exome, Female, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Phenotype, Sequence Analysis, DNA, Young Adult, Clinical Sciences, Cognitive Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/02b874g3

المؤلفون: Chun, Kathy, Wenger, Gail D., Chaubey, Alka, Dash, D.P., Kanagal-Shamanna, Rashmi, Kantarci, Sibel, Kolhe, Ravindra, Van Dyke, Daniel L., Wang, Lu, Wolff, Daynna J., Miron, Patricia M.

المصدر: In Cancer Genetics December 2018 228-229:236-250

المؤلفون: Amarillo, Ina, Bui, Peter H, Kantarci, Sibel, Rao, Nagesh, Shackley, Brit S, García, Rolando, Tirado, Carlos A

المصدر: Molecular Cytogenetics. 6(1)

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7v8682zq

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المؤلفون: Riggs, Erin Rooney, Andersen, Erica F.^{Aff2, Aff3}, Kantarci, Sibel, Kearney, Hutton, Patel, Ankita, Raca, Gordana, Ritter, Deborah I., South, Sarah T., Thorland, Erik C., Pineda-Alvarez, Daniel, Aradhya, Swaroop^{Aff10, Aff11}, Martin, Christa Lese, ^Aff12

المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 22(7):1278-1279

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