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1دورية أكاديمية
المؤلفون: Pagani, Lucia, St Clair, Patricia A, Teshiba, Terri M, Service, Susan K, Fears, Scott C, Araya, Carmen, Araya, Xinia, Bejarano, Julio, Ramirez, Margarita, Castrillón, Gabriel, Gomez-Makhinson, Juliana, Lopez, Maria C, Montoya, Gabriel, Montoya, Claudia P, Aldana, Ileana, Navarro, Linda, Freimer, Daniel G, Safaie, Brian, Keung, Lap-Woon, Greenspan, Kiefer, Chou, Katty, Escobar, Javier I, Ospina-Duque, Jorge, Kremeyer, Barbara, Ruiz-Linares, Andres, Cantor, Rita M, Lopez-Jaramillo, Carlos, Macaya, Gabriel, Molina, Julio, Reus, Victor I, Sabatti, Chiara, Bearden, Carrie E, Takahashi, Joseph S, Freimer, Nelson B
المصدر: Proceedings of the National Academy of Sciences of the United States of America. 113(6)
مصطلحات موضوعية: Chromosomes, Human, Pair 1, Humans, Pedigree, Family, Sleep, Bipolar Disorder, Circadian Rhythm, Inheritance Patterns, Quantitative Trait, Heritable, Lod Score, Phenotype, Middle Aged, Female, Male, Actigraphy, actigraphy, behavior, bipolar disorder, circadian rhythms, endophenotypes, Human Genome, Serious Mental Illness, Brain Disorders, Mental Health, Genetics, Sleep Research, 2.1 Biological and endogenous factors, Aetiology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/659836pjTest
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2دورية أكاديمية
المؤلفون: Kremeyer, B, García, J, Müller, H, Burley, MW, Herzberg, I, Parra, MV, Duque, C, Vega, J, Montoya, P, López, MC, Bedoya, G, Reus, V, Palacio, C, López, C, Ospina-Duque, J, Freimer, NB, Ruiz-Linares, A
المصدر: Human heredity. 70(4)
مصطلحات موضوعية: Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 7, Chromosomes, Human, Pair 16, Chromosomes, Human, Pair 21, Humans, Chromosome Mapping, Pedigree, Bipolar Disorder, Adolescent, Adult, Colombia, Female, Male, Young Adult, Genetic Linkage, Bipolar disorder, Psychiatric genetics, Whole-genome linkage analysis, Chromosomes, Human, Pair 1, Pair 7, Pair 16, Pair 21, Genetics, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/7j11x5hgTest
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3دورية أكاديمية
المؤلفون: Mathews, Carol A, Badner, Judith A, Andresen, J Michael, Sheppard, Brooke, Himle, Joseph A, Grant, Jon E, Williams, Kyle A, Chavira, Denise A, Azzam, Amin, Schwartz, Maxine, Reus, Victor I, Kim, Suck Won, Cook, Edwin H, Hanna, Gregory L
المصدر: Biological Psychiatry. 72(8)
مصطلحات موضوعية: Biological Sciences, Genetics, Biotechnology, Pediatric, Clinical Research, Human Genome, Mental Health, 2.1 Biological and endogenous factors, Aetiology, Adolescent, Adult, Age of Onset, Child, Child, Preschool, Chromosome Mapping, Chromosomes, Human, Pair 1, Family Health, Female, Follow-Up Studies, Genetic Linkage, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Male, Obsessive-Compulsive Disorder, Polymorphism, Single Nucleotide, United States, Young Adult, genome-wide, linkage, multigenerational, obsessive-compulsive, pedigree, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry, Biological sciences, Biomedical and clinical sciences, Psychology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/8fh9q06mTest
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4
المؤلفون: Gakuya Takamatsu, Kumiko Yanagi, Kae Koganebuchi, Fuyuko Yoshida, Jun-Seok Lee, Kanako Toyama, Kotaro Hattori, Chiaki Katagiri, Tsuyoshi Kondo, Hiroshi Kunugi, Ryosuke Kimura, Tadashi Kaname, Masayuki Matsushita
المصدر: Journal of Affective Disorders. 310:96-105
مصطلحات موضوعية: Psychiatry and Mental health, Clinical Psychology, Bipolar Disorder, Haplotypes, Chromosomes, Human, Pair 1, Mutation, Humans, Genetic Predisposition to Disease, Proteoglycans, Polymorphism, Single Nucleotide, Genome-Wide Association Study, Pedigree
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db2cbc2a3c0e27d504f949f00648209bTest
https://doi.org/10.1016/j.jad.2022.04.150Test -
5دورية أكاديمية
المؤلفون: Upadhyai, P, Amiri, EF, Guleria, VS, Bielas, SL, Girisha, KM, Shukla, A
مصطلحات موضوعية: Abnormalities, Multiple, Adult, Chromosome Deletion, Chromosome Duplication, Chromosomes, Human, Pair 1, DNA Copy Number Variations, Family, Female, Heart Defects, Congenital, Humans, India, Intellectual Disability, Male, Megalencephaly, Microcephaly, Pedigree, Phenotype, Syndrome
جغرافية الموضوع: England
وصف الملف: Print; application/pdf
العلاقة: https://www.ncbi.nlm.nih.gov/pubmed/32459673Test; https://hdl.handle.net/2027.42/175354Test; https://dx.doi.org/10.7302/6735Test; Clinical Dysmorphology; orcid:0000-0003-0567-5632; 29; 127; 131; Upadhyai, P; Amiri, EF; Guleria, VS; Bielas, SL; 0000-0003-0567-5632; Girisha, KM; Shukla, A
الإتاحة: https://doi.org/10.1097/MCD.0000000000000327Test
https://doi.org/10.7302/6735Test
https://hdl.handle.net/2027.42/175354Test
https://www.ncbi.nlm.nih.gov/pubmed/32459673Test -
6دورية أكاديمية
المؤلفون: Dahl, S Pieke, Kimberling, WJ, Gorin, MB, Weston, MD, Furman, JM, Pikus, A, Möller, C
المصدر: Journal of Medical Genetics. 30(10)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Usher Syndrome, Pediatric, Neurosciences, Rare Diseases, Genetic Testing, Eye Disease and Disorders of Vision, Aetiology, 2.1 Biological and endogenous factors, Congenital, Adolescent, Adult, Chromosomes, Human, Pair 1, Female, Genetic Linkage, Genetic Variation, Genotype, Haplotypes, Hearing Loss, Sensorineural, Humans, Male, Pedigree, Phenotype, Polymorphism, Restriction Fragment Length, Retinitis Pigmentosa, Syndrome, Medical and Health Sciences, Genetics & Heredity, Clinical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/7dz8953zTest
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7دورية أكاديمية
المؤلفون: Pieke Dahl, S, Kimberling, WJ, Gorin, MB, Weston, MD, Furman, JM, Pikus, A, Möller, C
المصدر: Journal of medical genetics. 30(10)
مصطلحات موضوعية: Chromosomes, Human, Pair 1, Humans, Hearing Loss, Sensorineural, Retinitis Pigmentosa, Syndrome, Pedigree, Genotype, Haplotypes, Phenotype, Polymorphism, Restriction Fragment Length, Adolescent, Adult, Female, Male, Genetic Variation, Genetic Linkage, Pediatric, Rare Diseases, Eye Disease and Disorders of Vision, Genetic Testing, Neurosciences, Usher Syndrome, Genetics, 2.1 Biological and endogenous factors, Congenital Disorders, Genetics & Heredity, Biological Sciences, Medical and Health Sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/7dz8953zTest
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8
المؤلفون: Jill A. Rosenfeld, Amanda Gerard, Lauren E. Westerfield, Stacey Edwards, Jennifer E. Posey, Bo Yuan, Weimin Bi, Elena L. Grigorenko, Katharina V. Schulze, Pengfei Liu
المصدر: American Journal of Medical Genetics Part A. 185:1388-1398
مصطلحات موضوعية: Adult, Heart Defects, Congenital, Male, Pediatrics, medicine.medical_specialty, Microcephaly, Adolescent, DNA Copy Number Variations, Developmental Disabilities, Genetic counseling, Genetic Counseling, Young Adult, Seizures, Intellectual Disability, Genetics, Humans, Medicine, Abnormalities, Multiple, Genetic Testing, Copy-number variation, Expressivity (genetics), Child, Genetics (clinical), business.industry, Infant, medicine.disease, Penetrance, Megalencephaly, Failure to Thrive, Pedigree, Exact test, Chromosomes, Human, Pair 1, Child, Preschool, Failure to thrive, Cohort, Female, Chromosome Deletion, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::faedc7611670d00dfd877d2f2b7249d1Test
https://doi.org/10.1002/ajmg.a.62104Test -
9
المؤلفون: Qiuyun Yang, Wenjing Tang, Lina Zhou, Xiaodong Zhao, Yanjun Jia, Yunfei An, Zhi-Yong Zhang, Yanping Wang, Xuemei Chen, Xuemei Tang
المصدر: Journal of Clinical Immunology. 40:378-387
مصطلحات موضوعية: 0301 basic medicine, Class I Phosphatidylinositol 3-Kinases, Primary Immunodeficiency Diseases, T-Lymphocytes, Immunology, Loss of Heterozygosity, Activated PI3K-delta syndrome, Biology, Lymphocyte Activation, medicine.disease_cause, Loss of heterozygosity, Mice, 03 medical and health sciences, 0302 clinical medicine, medicine, Animals, Humans, Immunology and Allergy, Copy-number variation, Allele, Cells, Cultured, Mice, Knockout, Mutation, Homozygote, High-Throughput Nucleotide Sequencing, Infant, Chromosome, Cell Differentiation, Uniparental Disomy, medicine.disease, Molecular biology, Uniparental disomy, Pedigree, 030104 developmental biology, Chromosomes, Human, Pair 1, Primary immunodeficiency, Female, 030215 immunology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb0f75665d577b59da0ed781975ddfedTest
https://doi.org/10.1007/s10875-020-00749-yTest -
10
المؤلفون: Biju Viswanath, Ram Murthy Anjanappa, Sourav Nayak, Y.C.J. Reddy, Ravi Kumar Nadella, Anuranjan Anand, Vallikiran Manduva, Sanjeev Jain, Nagaraj S. Moily
المصدر: Bipolar Disorders. 22:70-78
مصطلحات موضوعية: Adult, Male, Untranslated region, Bipolar Disorder, Genetic Linkage, Biology, 03 medical and health sciences, 0302 clinical medicine, Chromosome (genetic algorithm), Genetic linkage, Exome Sequencing, medicine, Humans, Bipolar disorder, Allele, Exome, Biological Psychiatry, Exome sequencing, Adaptor Proteins, Signal Transducing, Family Health, Genetics, Haplotype, Membrane Proteins, medicine.disease, Pedigree, 030227 psychiatry, Cytoskeletal Proteins, Psychiatry and Mental health, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 6, Female, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::951e151b86271283d057d81791199601Test
https://doi.org/10.1111/bdi.12815Test