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1Academic Journal
المؤلفون: Jun Zou, Diana Tran, Mai Baalbaki, Ling Fung Tang, Annie Poon, Angelo Pelonero, Erron W Titus, Christiana Yuan, Chenxu Shi, Shruthi Patchava, Elizabeth Halper, Jasmine Garg, Irina Movsesyan, Chaoying Yin, Roland Wu, Lisa D Wilsbacher, Jiandong Liu, Ronald L Hager, Shaun R Coughlin, Martin Jinek, Clive R Pullinger, John P Kane, Daniel O Hart, Pui-Yan Kwok, Rahul C Deo
المصدر: eLife, Vol 4 (2015)
مصطلحات موضوعية: genetic, cardiomyopathy, sarcomere, Medicine, Science, Biology (General), QH301-705.5
وصف الملف: electronic resource
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2Academic Journal
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
URL الوصول: https://escholarship.org/uc/item/21w7v8s5
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3Academic Journal
المؤلفون: Tanya Bardakjian, Max Krall, Di Wu, Richard Lao, Paul Ling-Fung Tang, Eunice Wan, Sarina Kopinsky, Adele Schneider, Pui-yan Kwok, Anne Slavotinek
المصدر: American Journal of Ophthalmology Case Reports, Vol 7, Iss C, Pp 102-106 (2017)
مصطلحات موضوعية: Anophthalmia, Microphthalmia, Growth/Differentiation Factor 3, GDF3, p.Arg266Cys in GDF3, Ophthalmology, RE1-994
Relation: http://www.sciencedirect.com/science/article/pii/S2451993616300809; https://doaj.org/toc/2451-9936; https://doaj.org/article/efe52b12b9744d6195a0ceb513f3de87
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4Academic Journal
المؤلفون: Jacob Mallott, Antonia Kwan, Joseph Church, Diana Gonzalez-espinosa, Fred Lorey, Ling Fung Tang, Uma Sunderam, Sadhna Rana, Rajgopal Srinivasan, Steven E. Brenner, Jennifer Puck, J. Mallott, A. Kwan, D. Gonzalez-espinosa, J. Puck, J. Church, F. Lorey, U. Sunderam, S. Rana, R. Srinivasan, S. E. Brenner
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.310.8110; http://compbio.berkeley.edu/people/brenner/pubs/mallot-2013-jci-scid.pdf
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5Academic Journal
المؤلفون: J Clin Immunol, Jacob Mallott, Antonia Kwan, Joseph Church, Diana Gonzalez-espinosa, Fred Lorey, Ling Fung Tang, Uma Sunderam, Sadhna Rana, Rajgopal Srinivasan, Steven E. Brenner, Jennifer Puck, J. Mallott, A. Kwan, D. Gonzalez-espinosa, J. Puck, J. Church, F. Lorey, U. Sunderam, S. Rana, R. Srinivasan, S. E. Brenner
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.299.4365; http://compbio.berkeley.edu/people/brenner/pubs/mallott-2012-jci-scid-epub.pdf
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المؤلفون: Ehsan Ullah, Adele Schneider, Muhammad Ansar, Sarina Kopinsky, Eunice Wan, Richard Lao, Pui-Yan Kwok, Tanya Bardakjian, P. Ling-Fung Tang, Di Wu, Lohith Madireddy, Sergio E. Baranzini, Anne Slavotinek
المصدر: Ophthalmic genetics, vol 38, iss 4
مصطلحات موضوعية: 0301 basic medicine, 030105 genetics & heredity, Eye, Ophthalmology & Optometry, Polymerase Chain Reaction, Microphthalmia, Optic Nerve Diseases, Microphthalmos, 2.1 Biological and endogenous factors, Exome, Aetiology, Growth Disorders, Genetics (clinical), Exome sequencing, Pediatric, Genetics, Optic nerve hypoplasia, Coloboma, SALL4, Pedigree, Phenotype, Female, Haploinsufficiency, Sequence Analysis, Mutation, Missense, BMP4, Biology, Article, Atrial septal defects, Frameshift mutation, 03 medical and health sciences, Opthalmology and Optometry, medicine, Humans, Anophthalmia, Eye Disease and Disorders of Vision, Heart Septal Defects, Human Genome, Infant, Sequence Analysis, DNA, DNA, medicine.disease, eye diseases, Ophthalmology, 030104 developmental biology, microphthalmia, Mutation, Pediatrics, Perinatology and Child Health, Congenital Structural Anomalies, sense organs, Missense, Transcription Factors
وصف الملف: application/pdf
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7
المؤلفون: Clare M. Cleveland, Angel C.Y. Mak, Pui-Yan Kwok, Tamiko R. Katsumoto, Paul Ling-Fung Tang, Lindsey A. Criswell, Melanie H. Smith, Paul J. Wolters, M. Kari Connolly
المصدر: Arthritis & Rheumatology. 68:2257-2262
مصطلحات موضوعية: 030203 arthritis & rheumatology, 0301 basic medicine, Genetics, Candidate gene, Genetic heterogeneity, Immunology, Biology, Minor allele frequency, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Rheumatology, Immunology and Allergy, 1000 Genomes Project, Exome, Gene, Exome sequencing, Genetic association
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8
المؤلفون: Pui-Yan Kwok, Muzammil Ahmad Khan, Atanu Kumar Dutta, Muhammad Zubair, Richard Lao, Muhammad Ansar, Paul Ling-Fung Tang, Neelam Shah, Anne Slavotinek, Ehsan Ullah, Ghazanfar Ali, Sumita Danda, Sundus Sajid, Iftikhar Ahmed, Muhammad Arif Nadeem Saqib
المصدر: Experimental Eye Research. 146:163-171
مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, DNA Copy Number Variations, DNA Mutational Analysis, India, 030105 genetics & heredity, Biology, medicine.disease_cause, Genetic analysis, Microphthalmia, 03 medical and health sciences, Cellular and Molecular Neuroscience, medicine, Humans, Microphthalmos, Exome, Family, Pakistan, Genetic Testing, Copy-number variation, Child, Exome sequencing, Genetics, Mutation, Anophthalmia, Genetic heterogeneity, Anophthalmos, Infant, DNA, medicine.disease, Sensory Systems, Pedigree, Ophthalmology, 030104 developmental biology, Child, Preschool, Female
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9
المؤلفون: Julianne Wojciak, Nassier Harfouch, Pui-Yan Kwok, Melvin M. Scheinman, Paul Ling-Fung Tang, Marwan M. Refaat
المصدر: Cardiac Electrophysiology Clinics. 8:217-221
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Radiofrequency ablation, Cardiomyopathy, 030204 cardiovascular system & hematology, Ventricular tachycardia, Asymptomatic, Syncope, Right ventricular cardiomyopathy, Sudden cardiac death, law.invention, Electrocardiography, 03 medical and health sciences, 0302 clinical medicine, law, Physiology (medical), Internal medicine, medicine, Palpitations, Humans, cardiovascular diseases, Frameshift Mutation, Arrhythmogenic Right Ventricular Dysplasia, business.industry, Middle Aged, medicine.disease, 030104 developmental biology, Ventricular fibrillation, cardiovascular system, Cardiology, medicine.symptom, Cardiology and Cardiovascular Medicine, business, Plakophilins
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10
المؤلفون: Susan Lindtner, Elisabetta Ferretti, Alexander Nord, Licia Selleri, Olga Golonzhka, Athena R. Ypsilanti, Axel Visel, John L.R. Rubenstein, Paul Ling-Fung Tang
المصدر: Neuron, vol 88, iss 6
Golonzhka, O; Nord, A; Tang, PLF; Lindtner, S; Ypsilanti, AR; Ferretti, E; et al.(2015). Pbx Regulates Patterning of the Cerebral Cortex in Progenitors and Postmitotic Neurons. Neuron, 88(6), 1192-1207. doi: 10.1016/j.neuron.2015.10.045. UCSF: Retrieved from: http://www.escholarship.org/uc/item/6sc7c7bgمصطلحات موضوعية: Neuroscience(all), Mitosis, Mice, Transgenic, Article, Transgenic, Laminar organization, Mice, Neural Stem Cells, Cortex (anatomy), medicine, Genetics, Animals, Psychology, Reelin, Progenitor cell, Cerebral Cortex, Neurons, Homeodomain Proteins, Neocortex, Neurology & Neurosurgery, biology, General Neuroscience, Stem Cells, fungi, Pre-B-Cell Leukemia Transcription Factor 1, Neurosciences, Inversion (evolutionary biology), Newborn, Stem Cell Research, Phenotype, Reelin Protein, medicine.anatomical_structure, Animals, Newborn, nervous system, Cerebral cortex, Neurological, biology.protein, Cognitive Sciences, Neuroscience, Transcription Factors
وصف الملف: application/pdf
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المؤلفون: Kathryn S.E. Cheah, Sandra Y.Y. Wong, You-Qiang Song, Alan W. Leung, Andy Lok Chung Hui, Binbin Wang, Patrick P.L. Tam, Pui-Yan Kwok, Suying Bao, Yalun Zhang, Paul Ling-Fung Tang, Fei Gao, Zhao Zhang, Qizhou Lian, Zhi-Gang Zhang, Abid Azhar, Dana S.M. Wong, Xueya Zhou, Yuan Gao, Zhe Yu, Jing Wang, Joseph T. Shieh, Nelson W F Dung, Yanhui Fan, Pak C. Sham
المصدر: JCI insight, vol 3, iss 2
JCI Insightمصطلحات موضوعية: 0301 basic medicine, Male, Pathology, Organogenesis, Heterogeneous Nuclear Ribonucleoprotein A1, DNA Mutational Analysis, Fibroblast growth factor, Cardiovascular, Transgenic, Mice, Congenital, Gene Knockout Techniques, 2.1 Biological and endogenous factors, Myocytes, Cardiac, Aetiology, Frameshift Mutation, Heart Defects, Pediatric, Embryonic heart, Homozygote, Heart, General Medicine, Cardiovascular disease, Penetrance, medicine.anatomical_structure, Heart Disease, Embryo, Female, Cardiac, Research Article, Signal Transduction, Heart Defects, Congenital, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Mice, Transgenic, Heart failure, Biology, Development, Frameshift mutation, 03 medical and health sciences, Genetic linkage, Double outlet right ventricle, medicine, Genetics, Animals, Humans, Myocytes, Sinoatrial node, Animal, Myocardium, Mammalian, Infant, medicine.disease, Embryo, Mammalian, Disease Models, Animal, 030104 developmental biology, Disease Models, Congenital Structural Anomalies
وصف الملف: application/pdf
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المؤلفون: R.O. Chen, Paul Ling-Fung Tang, Sarah L. Dugan, J.M. West, Tanya Bardakjian, Sergio E. Baranzini, Svetlana Lyalina, Adele Schneider, Ehsan Ullah, Di Wu, Jacqueline Harris, Eunice Wan, A. Patwardhan, A. G. de Alba Campomanes, Lohith Madireddy, Anne Slavotinek, M.J. Clark, S. Chervitz, K. Umeda, G. Chandratillake, Bryce A. Mendelsohn, Richard Lao, Pui-Yan Kwok, Philip C. Ursell, J. Tirch, R. Tischler, S.T. Garcia
المصدر: Clinical Genetics. 88:468-473
مصطلحات موضوعية: Genetics, Microcephaly, Anophthalmia, Genetic heterogeneity, Cardiomyopathy, Biology, medicine.disease, Microphthalmia, Cataracts, medicine, Exome, Genetics (clinical), Exome sequencing
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المؤلفون: Emily Miller, Michelle Petri, Robert P. Kimberly, Kara Mesznik, Jane E. Salmon, Joyce Rauch, Kirsten Sterba, Kimberly E. Taylor, Rachel Kaiser, Pui-Yan Kwok, Elizabeth E. Brown, Lindsey A. Criswell, Jeffrey C. Edberg, Luis M. Vilá, Graciela S. Alarcón, Gerald McGwin, Joanne Nititham, Rosalind Ramsey-Goldman, Ling Fung Tang, John D. Reveille
المصدر: Arthritis & Rheumatology (Hoboken, N.j.)
مصطلحات موضوعية: Adult, medicine.medical_specialty, Candidate gene, Adolescent, Genotype, Immunology, Population, Single-nucleotide polymorphism, Polymorphism, Single Nucleotide, White People, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Rheumatology, Internal medicine, Ethnicity, medicine, Humans, Lupus Erythematosus, Systemic, Immunology and Allergy, education, 030304 developmental biology, Venous Thrombosis, 030203 arthritis & rheumatology, 0303 health sciences, education.field_of_study, Lupus erythematosus, Asian, business.industry, Brief Report, Thrombosis, Arteries, Hispanic or Latino, Odds ratio, medicine.disease, Toll-Like Receptor 2, Black or African American, Toll-Like Receptor 4, Venous thrombosis, Logistic Models, Toll-Like Receptor 7, Toll-Like Receptor 9, Population study, Female, business
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14
المؤلفون: Erron W. Titus, Roland S. Wu, Clive R. Pullinger, Annie Poon, Chenxu Shi, Irina Movsesyan, Jiandong Liu, Christiana Yuan, Mai Baalbaki, Jun Zou, John P. Kane, Shruthi Patchava, Ronald L. Hager, Ling Fung Tang, Chaoying Yin, Pui-Yan Kwok, Martin Jinek, Diana Tran, Shaun R. Coughlin, Lisa D. Wilsbacher, Rahul C. Deo, Daniel O. Hart, Jasmine Garg, Angelo Pelonero, Elizabeth Halper
مصطلحات موضوعية: biology, Disease severity, C terminal truncation, biology.protein, Titin, biology.organism_classification, Zebrafish, Cell biology
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المؤلفون: Asbjørg Stray-Pedersen, Levi B. Watkin, Debra Canter, Sharon D. Dell, N. Tony Eissa, Claudia Gonzaga-Jauregui, John Hicks, Mickie H. Cheng, Dongfang Liu, Eric Boerwinkle, Noah Zaitlen, Feroz R. Papa, Kirk D. Jones, Emily M. Mace, Pui-Yan Kwok, Michael Waterfield, Birthe Jessen, Wojciech Wiszniewski, Timothy J. Vece, Sarah K. Nicholas, Ling Fung Tang, Suzanne M. Leal, Mark S. Anderson, Regie Lyn P. Santos-Cortez, Kwanghyuk Lee, James R. Lupski, Michael Rosenblum, Jordan S. Orange, George Makedonas, Shalini N. Jhangiani, Christopher S. Law, Samantha Penney, Richard A. Gibbs, Karen Nahmod, Max Jan, Youbao Sha, Lisa R. Forbes, Tomasz Gambin, Anthony K. Shum, Donna M. Muzny, Maike Thamsen
المصدر: Nature genetics, vol 47, iss 6
مصطلحات موضوعية: Lung Diseases, Male, Cellular immunity, Molecular Sequence Data, Golgi Apparatus, Biology, medicine.disease_cause, Endoplasmic Reticulum, Autoimmune Disease, Medical and Health Sciences, Coatomer Protein, Article, Autoimmunity, Autoimmune Diseases, Downregulation and upregulation, medicine, Genetics, 2.1 Biological and endogenous factors, Humans, Genetic Predisposition to Disease, Amino Acid Sequence, Aetiology, Child, Preschool, Baylor-Hopkins Center for Mendelian Genomics, Lung, Genetic Association Studies, Inflammatory and immune system, Arthritis, Infant, COPI, Biological Sciences, Endoplasmic Reticulum Stress, Cell biology, Transport protein, Pedigree, Vesicular transport protein, Protein Transport, HEK293 Cells, Coatomer, Child, Preschool, Unfolded protein response, Female, Lod Score, Interstitial, Lung Diseases, Interstitial, Developmental Biology
وصف الملف: application/pdf
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16Electronic Resource
المؤلفون: Ullah, E, Ullah, E, Wu, D, Madireddy, L, Lao, R, Ling-Fung Tang, P, Wan, E, Bardakjian, T, Kopinsky, S, Kwok, P-Y, Schneider, A, Baranzini, S, Ansar, M, Slavotinek, A
المصدر: Ophthalmic genetics; vol 38, iss 4, 371-375; 1381-6810
مصطلحات الفهرس: Humans, Optic Nerve Diseases, Coloboma, Microphthalmos, Heart Septal Defects, Growth Disorders, Transcription Factors, Polymerase Chain Reaction, Pedigree, Sequence Analysis, DNA, Phenotype, Mutation, Missense, Infant, Female, Exome, Anophthalmia, BMP4, SALL4, coloboma, microphthalmia, Eye Disease and Disorders of Vision, Genetics, Congenital Structural Anomalies, Human Genome, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Eye, Opthalmology and Optometry, Ophthalmology & Optometry, article
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17
المؤلفون: Pui-Yan Kwok, Shyamali Mandal, Bian Zhuan, Vera Lúcia Gil-da-Silva-Lopes, Richard Lao, Michaela Prochazkova, August Anderson, Alex Choi, Paul Ling-Fung Tang, Di Wu, Eunice Wan, Anne Slavotinek, Hazel Perry, Ophir D. Klein
المصدر: Human molecular genetics. 24(15)
مصطلحات موضوعية: Cleft Lip, Bone Morphogenetic Protein 4, Biology, medicine.disease_cause, Morpholinos, Mesoderm, Mice, Jaw Abnormalities, Genetics, medicine, Animals, Humans, Exome, Molecular Biology, Genetics (clinical), Exome sequencing, Zebrafish, Regulation of gene expression, Homeodomain Proteins, Mice, Knockout, Mutation, DLX3, Brain, Gene Expression Regulation, Developmental, High-Throughput Nucleotide Sequencing, General Medicine, DLX6, Articles, DLX5, Zebrafish Proteins, Cleft Palate, Secondary palate, Haploinsufficiency, HeLa Cells, Transcription Factors
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المؤلفون: Ling Fung Tang, Angelo Pelonero, Christiana Yuan, Chenxu Shi, Mai Baalbaki, Shaun R. Coughlin, Erron W. Titus, Ronald L. Hager, Annie Poon, Jasmine Garg, Lisa D. Wilsbacher, Clive R. Pullinger, Pui-Yan Kwok, Chaoying Yin, Daniel O. Hart, Roland S. Wu, Rahul C. Deo, Elizabeth Halper, Shruthi Patchava, Martin Jinek, Diana Tran, Jun Zou, John P. Kane, Irina Movsesyan, Jiandong Liu
المساهمون: University of Zurich, Deo, Rahul C
المصدر: eLife
eLife, Vol 4 (2015)مصطلحات موضوعية: Mouse, Cardiomyopathy, 030204 cardiovascular system & hematology, medicine.disease_cause, Sarcomere, Exon, 0302 clinical medicine, 2400 General Immunology and Microbiology, Connectin, Biology (General), Promoter Regions, Genetic, Zebrafish, Sequence Deletion, Genetics, 0303 health sciences, Mutation, biology, General Neuroscience, 2800 General Neuroscience, General Medicine, Phenotype, 3. Good health, Medicine, Titin, medicine.symptom, Research Article, Human, Cardiomyopathy, Dilated, QH301-705.5, Science, 610 Medicine & health, macromolecular substances, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Muscular Diseases, 1300 General Biochemistry, Genetics and Molecular Biology, medicine, 10019 Department of Biochemistry, Animals, Humans, Myopathy, Human Biology and Medicine, 030304 developmental biology, General Immunology and Microbiology, biology.organism_classification, medicine.disease, Disease Models, Animal, biology.protein, 570 Life sciences, Mutant Proteins, sarcomere, genetic, cardiomyopathy
وصف الملف: Zou et al. 2015pdf.pdf - application/pdf
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المؤلفون: Shan-Mei Xu, Pui-Yan Kwok, Paul Ling-Fung Tang, Lisa L. Hua, Michael P. Verzi, Brian L. Black, Ashley Robinson, Jianxin Hu
المصدر: Development.
مصطلحات موضوعية: Research Report, medicine.medical_specialty, Indoles, animal structures, Mice, Transgenic, Biology, Mice, Transcription (biology), Internal medicine, medicine, Animals, MEF2C, Enhancer, Molecular Biology, Transcription factor, In Situ Hybridization, MADS-box, Feedback, Physiological, MEF2 Transcription Factors, Effector, Endothelins, Gene Expression Regulation, Developmental, Neural crest, Galactosides, beta-Galactosidase, Cell biology, Endocrinology, Neural Crest, embryonic structures, cardiovascular system, Endothelin receptor, Signal Transduction, Developmental Biology
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المؤلفون: Paul Ling-Fung Tang, Rameen Beroukhim, Calum A. MacRae, Murat Tasan, Teresa De Marco, Christiana Yuan, Ramachandran S. Vasan, Rahul C. Deo, Janine F. Felix, Frederick P. Roth, Gabriel Musso, Pui-Yan Kwok, Annie Poon
المساهمون: Epidemiology
المصدر: Genome Biology
De Marco, Teresa; Deo, Rahul; Kwok, Pui-Yan; Deo, RC; Musso, G; Tasan, M; et al.(2014). Prioritizing causal disease genes using unbiased genomic features. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/5bp5c1dw
Genome Biology, 15(12):534. BioMed Central Ltd.مصطلحات موضوعية: Filamins, Molecular Sequence Data, Cardiomyopathy, Genome-wide association study, Disease, 030204 cardiovascular system & hematology, Biology, Mice, 03 medical and health sciences, 0302 clinical medicine, SDG 3 - Good Health and Well-being, Artificial Intelligence, medicine, Animals, Humans, Genetic Predisposition to Disease, FLNC, Zebrafish, 030304 developmental biology, Genetics, 0303 health sciences, Research, Genomics, medicine.disease, Phenotype, Human genetics, 3. Good health, Disease Models, Animal, Cardiovascular Diseases, Mutation, Mutation (genetic algorithm), Hypertrophy, Left Ventricular, Identification (biology), Algorithms, Genome-Wide Association Study
وصف الملف: application/pdf
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