المؤلفون: Adhikari, Aashish N, Gallagher, Renata C, Wang, Yaqiong, Currier, Robert J, Amatuni, George, Bassaganyas, Laia, Chen, Flavia, Kundu, Kunal, Kvale, Mark, Mooney, Sean D, Nussbaum, Robert L, Randi, Savanna S, Sanford, Jeremy, Shieh, Joseph T, Srinivasan, Rajgopal, Sunderam, Uma, Tang, Hao, Vaka, Dedeepya, Zou, Yangyun, Koenig, Barbara A, Kwok, Pui-Yan, Risch, Neil, Puck, Jennifer M, Brenner, Steven E

المصدر: Nature Medicine. 26(9)

مصطلحات موضوعية: Paediatrics, Biomedical and Clinical Sciences, Clinical Research, Genetics, Prevention, Pediatric, Perinatal Period - Conditions Originating in Perinatal Period, Infant Mortality, 4.2 Evaluation of markers and technologies, 4.4 Population screening, Detection, screening and diagnosis, Exome, Genetic Testing, Humans, Infant, Newborn, Metabolism, Inborn Errors, Neonatal Screening, Tandem Mass Spectrometry, Exome Sequencing, Medical and Health Sciences, Immunology, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/9vf568hpTest

المؤلفون: Wong, Karen HY, Levy‐Sakin, Michal, Ma, Walfred, Gonzaludo, Nina, Mak, Angel CY, Vaka, Dedeepya, Poon, Annie, Chu, Catherine, Lao, Richard, Balamir, Melek, Grenville, Zoe, Wong, Nicolas, Kane, John P, Kwok, Pui‐Yan, Malloy, Mary J, Pullinger, Clive R

المصدر: Molecular Genetics & Genomic Medicine. 7(12)

مصطلحات موضوعية: Biological Sciences, Genetics, Pediatric, Atherosclerosis, Biotechnology, Cardiovascular, Human Genome, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Base Sequence, Child, Preschool, Cholesterol, LDL, Chromosome Mapping, Cohort Studies, Frameshift Mutation, Genetic Variation, Genome, Human, Heterozygote, Homozygote, Humans, Hyperlipoproteinemia Type II, Infant, Lipoproteins, LDL, Pedigree, Phenotype, Receptors, LDL, Sequence Analysis, DNA, Exome Sequencing, 10xG linked-reads whole genome sequencing, dyslipidemia, LDL, whole exome sequencing, Medicinal and Biomolecular Chemistry, Clinical Sciences, Medicinal and biomolecular chemistry

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/52g9w46vTest

المؤلفون: Yu, Zhe, Tang, Paul Lf, Wang, Jing, Bao, Suying, Shieh, Joseph T, Leung, Alan Wl, Zhang, Zhao, Gao, Fei, Wong, Sandra Yy, Hui, Andy Lc, Gao, Yuan, Dung, Nelson, Zhang, Zhi-Gang, Fan, Yanhui, Zhou, Xueya, Zhang, Yalun, Wong, Dana Sm, Sham, Pak C, Azhar, Abid, Kwok, Pui-Yan, Tam, Patrick Pl, Lian, Qizhou, Cheah, Kathryn Se, Wang, Binbin, Song, You-Qiang

المصدر: JCI insight. 3(2)

مصطلحات موضوعية: Myocardium, Heart, Myocytes, Cardiac, Animals, Mice, Transgenic, Humans, Mice, Heart Defects, Congenital, Disease Models, Animal, DNA Mutational Analysis, Signal Transduction, Organogenesis, Homozygote, Frameshift Mutation, Infant, Female, Male, Embryo, Mammalian, Gene Knockout Techniques, Heterogeneous Nuclear Ribonucleoprotein A1, Cardiovascular disease, Development, Genetics, Heart failure, Disease Models, Animal, Embryo, Mammalian, Heart Defects, Congenital, Transgenic, Myocytes, Cardiac

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/44v4j2rpTest

المؤلفون: Berg, Jonathan S, Agrawal, Pankaj B, Bailey, Donald B, Beggs, Alan H, Brenner, Steven E, Brower, Amy M, Cakici, Julie A, Ceyhan-Birsoy, Ozge, Chan, Kee, Chen, Flavia, Currier, Robert J, Dukhovny, Dmitry, Green, Robert C, Harris-Wai, Julie, Holm, Ingrid A, Iglesias, Brenda, Joseph, Galen, Kingsmore, Stephen F, Koenig, Barbara A, Kwok, Pui-Yan, Lantos, John, Leeder, Steven J, Lewis, Megan A, McGuire, Amy L, Milko, Laura V, Mooney, Sean D, Parad, Richard B, Pereira, Stacey, Petrikin, Joshua, Powell, Bradford C, Powell, Cynthia M, Puck, Jennifer M, Rehm, Heidi L, Risch, Neil, Roche, Myra, Shieh, Joseph T, Veeraraghavan, Narayanan, Watson, Michael S, Willig, Laurel, Yu, Timothy W, Urv, Tiina, Wise, Anastasia L

المصدر: Pediatrics. 139(2)

مصطلحات موضوعية: Health Services and Systems, Health Sciences, Pediatric, Biotechnology, Genetics, Genetic Testing, Pediatric Research Initiative, Human Genome, Prevention, 4.1 Discovery and preclinical testing of markers and technologies, Detection, screening and diagnosis, Generic health relevance, Good Health and Well Being, Exome, Genetic Carrier Screening, Genetic Research, Genome-Wide Association Study, Genomic Structural Variation, Humans, Infant, Newborn, Intensive Care Units, Neonatal, Neonatal Screening, Predictive Value of Tests, Prospective Studies, Public Health, Sequence Analysis, DNA, United States, Medical and Health Sciences, Psychology and Cognitive Sciences, Pediatrics, Biomedical and clinical sciences, Health sciences, Psychology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/68b8k0r9Test

المؤلفون: Watkin, Levi B, Jessen, Birthe, Wiszniewski, Wojciech, Vece, Timothy J, Jan, Max, Sha, Youbao, Thamsen, Maike, Santos-Cortez, Regie LP, Lee, Kwanghyuk, Gambin, Tomasz, Forbes, Lisa R, Law, Christopher S, Stray-Pedersen, Asbjørg, Cheng, Mickie H, Mace, Emily M, Anderson, Mark S, Liu, Dongfang, Tang, Ling Fung, Nicholas, Sarah K, Nahmod, Karen, Makedonas, George, Canter, Debra L, Kwok, Pui-Yan, Hicks, John, Jones, Kirk D, Penney, Samantha, Jhangiani, Shalini N, Rosenblum, Michael D, Dell, Sharon D, Waterfield, Michael R, Papa, Feroz R, Muzny, Donna M, Zaitlen, Noah, Leal, Suzanne M, Gonzaga-Jauregui, Claudia, Boerwinkle, Eric, Eissa, N Tony, Gibbs, Richard A, Lupski, James R, Orange, Jordan S, Shum, Anthony K

المصدر: Nature Genetics. 47(6)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Autoimmune Disease, Lung, Arthritis, Genetics, 2.1 Biological and endogenous factors, Aetiology, Inflammatory and immune system, Amino Acid Sequence, Autoimmune Diseases, Child, Preschool, Coatomer Protein, Endoplasmic Reticulum, Endoplasmic Reticulum Stress, Female, Genetic Association Studies, Genetic Predisposition to Disease, Golgi Apparatus, HEK293 Cells, Humans, Infant, Lod Score, Lung Diseases, Interstitial, Male, Molecular Sequence Data, Pedigree, Protein Transport, Baylor-Hopkins Center for Mendelian Genomics, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/8w121536Test

المؤلفون: Choi, Alex, Lao, Richard, Ling-Fung Tang, Paul, Wan, Eunice, Mayer, Wasima, Bardakjian, Tanya, Shaw, Gary M, Kwok, Pui-Yan, Schneider, Adele, Slavotinek, Anne

المصدر: European journal of human genetics : EJHG. 23(3)

مصطلحات موضوعية: Humans, Eye Abnormalities, Microphthalmos, Peroxidases, Receptors, Interleukin-1, Antigens, Neoplasm, Amino Acid Substitution, Pedigree, Phenotype, Mutation, Child, Preschool, Infant, Male, High-Throughput Nucleotide Sequencing, Exome, Eye Disease and Disorders of Vision, Genetics, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Eye, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/21w7v8s5Test

المؤلفون: Chao, Ryan, Nevin, Linda, Agarwal, Pooja, Riemer, Jan, Bai, Xiaoyang, Delaney, Allen, Akana, Matthew, JimenezLopez, Nelson, Bardakjian, Tanya, Schneider, Adele, Chassaing, Nicolas, Schorderet, Daniel F, FitzPatrick, David, Kwok, Pui-yan, Ellgaard, Lars, Gould, Douglas B, Zhang, Yan, Malicki, Jarema, Baier, Herwig, Slavotinek, Anne

المصدر: PloS one. 5(5)

مصطلحات موضوعية: Eye, Animals, Zebrafish, Humans, Mice, Anophthalmos, Coloboma, Microphthalmos, Homeodomain Proteins, Transcription Factors, Oligonucleotides, Antisense, RNA, Messenger, Organ Size, Oligonucleotide Array Sequence Analysis, In Situ Hybridization, DNA Mutational Analysis, Gene Expression Regulation, Developmental, Sequence Deletion, Base Sequence, Base Pairing, Larva, Phenotype, Molecular Sequence Data, Infant, Male, Protein Disulfide-Isomerases, LIM-Homeodomain Proteins, General Science & Technology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/2f68h6k4Test

المؤلفون: Bodian, Dale L, Chan, Ting-Fung, Poon, Annie, Schwarze, Ulrike, Yang, Kathleen, Byers, Peter H, Kwok, Pui-Yan, Klein, Teri E

المصدر: Human Molecular Genetics. 18(3)

مصطلحات موضوعية: Genetics, Rare Diseases, Clinical Research, Congenital Structural Anomalies, Osteogenesis Imperfecta, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Aborted Fetus, Cohort Studies, Collagen, Collagen Type I, Collagen Type I, alpha 1 Chain, Extracellular Matrix Proteins, Female, Genotype, Humans, Infant, Newborn, Male, Membrane Glycoproteins, Molecular Chaperones, Mutation, Phenotype, Polymorphism, Genetic, Polymorphism, Single Nucleotide, Prolyl Hydroxylases, Proteoglycans, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/3kp2v0d9Test