-
1دورية أكاديمية
المؤلفون: Amanda E Links, David Draper, Elizabeth Lee, Jessica Guzman, Zaheer Valivullah, Valerie Maduro, Vlad Lebedev, Maxim Didenko, Garrick Tomlin, Michael Brudno, Marta Girdea, Sergiu Dumitriu, Andrew M Arnold, Bert Coessens, Steven Verhoeven, William Bone, David Adams, Cornelius F Boerkoel, William A Gahl, Murat Sincan
المصدر: Frontiers in Medicine, Vol 3 (2016)
مصطلحات موضوعية: Translational research, precision medicine, Information System, process management system, ontology-based phenotyping, Medicine (General), R5-920
وصف الملف: electronic resource
-
2
المؤلفون: Elise Valkanas, Jessica Guzman, Emma Mosbrook, Murat Sincan, Elizabeth M. J. Lee, Karen Xu, Cynthia J. Tifft, Camillo Toro, Elise D. Flynn, David R. Adams, Amanda E. Links, Cornelius F. Boerkoel, William A. Gahl
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics
مصطلحات موضوعية: 0301 basic medicine, PharmGKB, precision medicine, 030105 genetics & heredity, Bioinformatics, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, Secondary findings, SNP genotypes, Medicine, SNP, Humans, Exome, Genetics (clinical), Incidental Findings, business.industry, personalized medicine, Genomics, Precision medicine, NIH Undiagnosed Diseases Program, United States, SNP genotyping, 030104 developmental biology, National Institutes of Health (U.S.), Pharmacogenetics, Pharmacogenomics, Cohort, business, exome sequencing
-
3
المؤلفون: Melissa A. Haendel, Cornelius F. Boerkoel, Nicole L. Washington, Murat Sincan, William A. Gahl, Christopher J. Mungall, David W. Draper, Amanda E. Links, Heather Trang, Ariane Soldatos, Lynne A. Wolfe, Nicole Vasilevsky, William P. Bone, Elizabeth M. J. Lee, Michael Brudno, Elise D. Flynn, Peter N. Robinson, Catherine Groden, Colleen E. Wahl, Marta Girdea, Orion J. Buske, Damian Smedley, Julius O.B. Jacobsen, Rena A. Godfrey, Michele Nehrebecky, David R. Adams, Elise Valkanas, Sebastian Köhler, Gretchen Golas, Cynthia J. Tifft, Thomas C. Markello, Camilo Toro, Joie Davis
المصدر: Genetics in Medicine
مصطلحات موضوعية: 0301 basic medicine, Patients, phenotype, ved/biology.organism_classification_rank.species, model organisms, 03 medical and health sciences, Mice, Data sequences, Rare Diseases, Databases, Genetic, Exome Sequencing, Medicine, Animals, Humans, Exome, Original Research Article, Model organism, Genetics (clinical), Exome sequencing, Genetic Association Studies, Zebrafish, Genetics, business.industry, ved/biology, Extramural, Computational Biology, Genetic Variation, Phenotype, undiagnosed diseases, United States, 3. Good health, Disease Models, Animal, 030104 developmental biology, semantic comparison, National Institutes of Health (U.S.), business
-
4
المؤلفون: Nicole L. Washington, Chandree L. Beaulieu, Melissa A. Haendel, Orion J. Buske, William A. Gahl, Marta Girdea, Taila Hartley, Michael Brudno, William P. Bone, Heather Trang, Cornelius F. Boerkoel, Andriy Misyura, Kym M. Boycott, Sergiu Dumitriu, Tal Friedman, Amanda E. Links, David R. Adams, Peter N. Robinson, Bailey Gallinger
المصدر: Human Mutation. 36:931-940
مصطلحات موضوعية: Candidate gene, Genotype, Information Dissemination, Genetic Variation, Web Browser, Biology, Bioinformatics, Phenotype, Article, 3. Good health, User-Computer Interface, Rare Diseases, Semantic similarity, Case records, Databases, Genetic, Genetic variation, Genetics, Humans, Genetic Predisposition to Disease, Exome, Software, Genetics (clinical), Rare disease
-
5
المؤلفون: Cornelius F. Boerkoel, William A. Gahl, Pawel Stankiewicz, Samarth Bhatt, Anna Lehman, Christopher E. Mason, Camilo Toro, David R. Adams, Marjolaine Limbos, Patrice Eydoux, Valerie Maduro, James C. Mullikin, Christèle du Souich, Praveen F. Cherukuri, Paul Atkins, Clara D.M. van Karnebeek, Barbara N. Pusey, Amanda E. Links, Andrew Sear, May Christine V. Malicdan, Rosemarie Rupps, Marie Morimoto
المساهمون: Other departments
المصدر: Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases, 11(1). BioMed Centralمصطلحات موضوعية: 0301 basic medicine, Derivative chromosome, Intellectual disability, Translocation, Translocation Breakpoint, Chromosomal translocation, Biology, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Translocation, Genetic, 03 medical and health sciences, Transcription Factor 4, Pitt-Hopkins syndrome, Humans, Hyperventilation, Protein Isoforms, Genetics(clinical), Pharmacology (medical), Child, Promoter Regions, Genetic, Gene, Genetics (clinical), TCF4, Genetics, Medicine(all), Basic Helix-Loop-Helix Leucine Zipper Transcription Factors, Research, Alternative splicing, Facies, Promoter, General Medicine, RNAseq, Alternative Splicing, 030104 developmental biology, Fusion transcript, Mutation, Promoter utilization, Female, Gene expression, Transcriptome, Transcription Factors
-
6
المؤلفون: Timothy Gall, Elise Valkanas, Christofer Bello, Thomas Markello, Christopher Adams, William P. Bone, Alexander J. Brandt, Jennifer M. Brazill, Lynn Carmichael, Mariska Davids, Joie Davis, Zoraida Diaz-Perez, David Draper, Jeremy Elson, Elise D. Flynn, Rena Godfrey, Catherine Groden, Cheng-Kang Hsieh, Roxanne Fischer, Gretchen A. Golas, Jessica Guzman, Yan Huang, Megan S. Kane, Elizabeth Lee, Chong Li, Amanda E. Links, Valerie Maduro, May Christine V. Malicdan, Fayeza S. Malik, Michele Nehrebecky, Joun Park, Paul Pemberton, Katherine Schaffer, Dimitre Simeonov, Murat Sincan, Damian Smedley, Zaheer Valivullah, Colleen Wahl, Nicole Washington, Lynne A. Wolfe, Karen Xu, Yi Zhu, William A. Gahl, Cynthia J. Tifft, Camillo Toro, David R. Adams, Miao He, Peter N. Robinson, Melissa A. Haendel, R. Grace Zhai, Cornelius F. Boerkoel
المصدر: Frontiers in Medicine
Frontiers in Medicine, Vol 4 (2017)مصطلحات موضوعية: 0301 basic medicine, Knowledge management, distributed cognition, rare disease, Translational research, Disease, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, Human Phenotype Ontology, Methods, Medicine, glycome, Maladaptation, Functional validation, lcsh:R5-920, business.industry, Translational medicine, General Medicine, 3. Good health, Logical framework, 030104 developmental biology, Genomic information, business, lcsh:Medicine (General), 030217 neurology & neurosurgery, human phenotype ontology, diploid alignment
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4157d7c6dd1d356ca89fd1240ab03be7
http://europepmc.org/articles/PMC5445140 -
7
المؤلفون: William P. Bone, Meral Gunay-Aygun, Elizabeth M. J. Lee, Camilo Toro, Amanda E. Links, Tatjana Kilo, Sanjay Chainani, Andrew R. Cullinane, Thomas C. Markello, Jay N. Lozier, Olga Simakova, Irina Maric, Iren Horkayne-Szakaly, Roxanne Fischer, William A. Gahl, James G. White, Lynn Meister, Alan Morrison, Dong Chen, Kourosh Pakzad, Justin Y. Kwan, Cornelius F. Boerkoel
المصدر: Molecular genetics and metabolism. 114(3)
مصطلحات موضوعية: Male, Endocrinology, Diabetes and Metabolism, Biochemistry, Dyslexia, Endocrinology, Platelet, Exome, Child, ORAI1, Ichthyosis, STIM1, STIM2, Middle Aged, Miosis, Neoplasm Proteins, Pedigree, Child, Preschool, Muscle Fatigue, Female, medicine.symptom, Adult, Blood Platelets, medicine.medical_specialty, Heterozygote, Migraine Disorders, Erythrocytes, Abnormal, Biology, Article, Channelopathy, Muscular Diseases, Internal medicine, Genetics, medicine, Humans, Platelet activation, Stromal Interaction Molecule 1, Myopathy, Molecular Biology, Endoplasmic reticulum, Infant, Membrane Proteins, Sequence Analysis, DNA, medicine.disease, Thrombocytopenia, Mutation, Calcium, Channelopathies, Blood Platelet Disorders, Spleen
Full Text Finder 
Find this article in full text from Springer Verlag.