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1دورية أكاديمية
المؤلفون: Kanca, Oguz, Andrews, Jonathan C, Lee, Pei-Tseng, Patel, Chirag, Braddock, Stephen R, Slavotinek, Anne M, Cohen, Julie S, Gubbels, Cynthia S, Aldinger, Kimberly A, Williams, Judy, Indaram, Maanasa, Fatemi, Ali, Yu, Timothy W, Agrawal, Pankaj B, Vezina, Gilbert, Simons, Cas, Crawford, Joanna, Lau, C Christopher, Undiagnosed Diseases Network, Chung, Wendy K, Markello, Thomas C, Dobyns, William B, Adams, David R, Gahl, William A, Wangler, Michael F, Yamamoto, Shinya, Bellen, Hugo J, Malicdan, May Christine V
المصدر: American journal of human genetics. 105(2)
مصطلحات موضوعية: Undiagnosed Diseases Network, Cerebellum, Animals, Humans, Drosophila melanogaster, Epilepsy, Nervous System Malformations, Coloboma, Microfilament Proteins, Developmental Disabilities, Amino Acid Sequence, Sequence Homology, Phenotype, Mutation, Adult, Child, Infant, Infant, Newborn, Female, Male, Young Adult, Body Dysmorphic Disorders, Intellectual Disability, WD40 Repeats, CG12333, Drosophila, WD40 repeats, WDR37 domains, bang sensitivity, wdr37, Genetics, Pediatric, Rare Diseases, Congenital Structural Anomalies, Neurodegenerative, Neurosciences, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Aetiology, 2.1 Biological and endogenous factors, Neurological, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/8wx8g9p6Test
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2دورية أكاديمية
المصدر: Ophthalmic genetics. 38(6)
مصطلحات موضوعية: Humans, Microcephaly, Nystagmus, Pathologic, Esotropia, Nuclear Proteins, Electroretinography, Developmental Disabilities, Frameshift Mutation, Mutation, Missense, Infant, Female, Retinal Dystrophies, High-Throughput Nucleotide Sequencing, BRAT1, electroretinography, retinal dystrophy, Nystagmus, Pathologic, Mutation, Missense, Brain Disorders, Rare Diseases, Intellectual and Developmental Disabilities, Neurosciences, Clinical Research, Neurodegenerative, Genetics, Eye Disease and Disorders of Vision, 2.1 Biological and endogenous factors, Eye, Ophthalmology & Optometry, Opthalmology and Optometry
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/4k87h56mTest
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3دورية أكاديمية
المؤلفون: Lamont, Ryan E, Tan, Wen-Hann, Innes, A Micheil, Parboosingh, Jillian S, Schneidman-Duhovny, Dina, Rajkovic, Aleksandar, Pappas, John, Altschwager, Pablo, DeWard, Stephanie, Fulton, Anne, Gray, Kathryn J, Krall, Max, Mehta, Lakshmi, Rodan, Lance H, Saller, Devereux N, Steele, Deanna, Stein, Deborah, Yatsenko, Svetlana A, Bernier, François P, Slavotinek, Anne M
المصدر: European Journal of Human Genetics. 24(10)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Kidney Disease, Clinical Research, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Renal and urogenital, Adaptor Proteins, Signal Transducing, Carrier Proteins, Cytoskeletal Proteins, Female, Genotype, Humans, Hydrocephalus, Infant, Intracellular Signaling Peptides and Proteins, Male, Membrane Proteins, Mutation, Nephrosis, Pedigree, Phenotype, Proteins, Syndrome, Clinical Sciences, Genetics & Heredity, Clinical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/2qk9t640Test
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4دورية أكاديمية
المؤلفون: Pua, Heather H, Krishnamurthi, Swetha, Farrell, Jessica, Margeta, Marta, Ursell, Philip C, Powers, Martin, Slavotinek, Anne M, Jeng, Linda JB
المصدر: American Journal of Medical Genetics Part A. 164(1)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Pediatric, Biotechnology, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Congenital, Abnormalities, Multiple, Chromosome Deletion, Chromosomes, Human, Pair 9, Comparative Genomic Hybridization, Facies, Fatal Outcome, Female, Gene Deletion, Humans, Infant, Phenotype, 9q21 deletion, craniofacial abnormalities, cleft palate, heart septal defects, atrial, bicorunate uterus, hip dislocation, muscle hypotonia, comparative genomic hybridization, Clinical Sciences, Clinical sciences
الوصول الحر: https://escholarship.org/uc/item/1nr630n9Test
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5دورية أكاديميةNatural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome
المؤلفون: Zarate, Yuri A, Smith-Hicks, Constance L, Greene, Carol, Abbott, Mary-Alice, Siu, Victoria Mok, Calhoun, Amy R U L, Pandya, Arti, Li, Chumei, Sellars, Elizabeth A, Kaylor, Julie, Bosanko, Katherine, Kalsner, Louisa, Basinger, Alice, Slavotinek, Anne M, Perry, Hazel, Saenz, Margarita, Szybowska, Marta, Wilson, Louise C, Kumar, Ajith, Brain, Caroline, Balasubramanian, Meena, Dubbs, Holly, Ortiz-Gonzalez, Xilma R, Zackai, Elaine, Stein, Quinn, Powell, Cynthia M, Schrier Vergano, Samantha, Britt, Allison, Sun, Angela, Smith, Wendy, Bebin, E Martina, Picker, Jonathan, Kirby, Amelia, Pinz, Hailey, Bombei, Hannah, Mahida, Sonal, Cohen, Julie S, Fatemi, Ali, Vernon, Hilary J, McClellan, Rebecca, Fleming, Leah R, Knyszek, Brittney, Steinraths, Michelle, Velasco Gonzalez, Cruz, Beck, Anita E, Golden-Grant, Katie L, Egense, Alena, Parikh, Aditi, Raimondi, Chantalle, Angle, Brad, Allen, William, Schott, Suzanna, Algrabli, Adi, Robin, Nathaniel H, Ray, Joseph W, Everman, David B, Gambello, Michael J, Chung, Wendy K
المصدر: Paediatrics Publications
مصطلحات موضوعية: abnormalities, multiple, adolescent, adult, child, preschool, facies, female, genetic association studies, genetic predisposition to disease, genotype, humans, infant, inheritance patterns, male, matrix attachment region binding proteins, phenotype, polymorphism, single nucleotide, syndrome, transcription factors, young adult, Pediatrics
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6دورية أكاديمية
المؤلفون: Li, Ben C, Hogue, Jacob, Eilers, Meg, Mehrotra, Pavni, Hyland, James, Holm, Tara, Prosen, Tracy, Slavotinek, Anne M
المصدر: Department of Pathology & Laboratory Medicine
مصطلحات موضوعية: Contractile Proteins, Fatal Outcome, Female, Filamins, Humans, Infant, Newborn, Male, Microfilament Proteins, Mutation, Missense, Osteochondrodysplasias, Pregnancy, Premature Birth, Radiography, Ultrasonography, Prenatal, Department of Pathology and Laboratory Medicine, Medicine and Health Sciences
العلاقة: https://scholarlyworks.lvhn.org/pathology-laboratory-medicine/1350Test; https://pubmed.ncbi.nlm.nih.gov/23401428Test/