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1دورية أكاديمية
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, Vol 4 (2017)
مصطلحات موضوعية: rare disease, human phenotype ontology, distributed cognition, diploid alignment, glycome, Medicine (General), R5-920
وصف الملف: electronic resource
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2
المؤلفون: Hadass Pri-Chen, Jennifer A. Wang, Melissa A. Merideth, Marjan Huizing, Richard A. Hess, Kevin J. O'Brien, May Christine V. Malicdan, Bernadette R. Gochuico, Roxanne Fischer, William A. Gahl
المصدر: Hum Mutat
مصطلحات موضوعية: Genetic counseling, Biology, medicine.disease_cause, Article, 03 medical and health sciences, hemic and lymphatic diseases, Genetics, medicine, Missense mutation, Humans, Genetic Predisposition to Disease, Genetics (clinical), Immunodeficiency, Alleles, Genetic Association Studies, 030304 developmental biology, 0303 health sciences, Mutation, integumentary system, 030305 genetics & heredity, Intracellular Signaling Peptides and Proteins, Membrane Proteins, medicine.disease, Molecular diagnostics, eye diseases, Bleeding diathesis, Minor allele frequency, Phenotype, Hermanski-Pudlak Syndrome, Multigene Family, Hermansky–Pudlak syndrome
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3
المؤلفون: Ian A. Glass, John A. Sayer, Kailash Daryanani, Dan Doherty, May Christine V. Malicdan, Joy Bryant, Peter L. Choyke, Melissa A. Parisi, Thierry Vilboux, Meghana Vemulapalli, Roxanne Fischer, William A. Gahl, James C. Mullikin, Meral Gunay-Aygun, Baris Turkbey, Leah R. Fleming
المصدر: Clinical Journal of the American Society of Nephrology. 12:1962-1973
مصطلحات موضوعية: 0301 basic medicine, Cystic kidney, Transplantation, medicine.medical_specialty, urogenital system, Epidemiology, business.industry, 030232 urology & nephrology, Multicystic dysplastic kidney, Critical Care and Intensive Care Medicine, medicine.disease, Gastroenterology, Joubert syndrome, Autosomal Recessive Polycystic Kidney Disease, 03 medical and health sciences, Cystic kidney disease, 030104 developmental biology, 0302 clinical medicine, Nephrology, Nephronophthisis, Internal medicine, medicine, Polycystic kidney disease, business, Kidney disease
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::23b1fe2fbdcf62586074487afec64548
https://doi.org/10.2215/cjn.05660517 -
4
المؤلفون: Dawn M. Maynard, Thierry Vilboux, Meral Gunay-Aygun, Deniz Yildirimli, May Christine V. Malicdan, Roxanne Fischer, William A. Gahl, Joy Bryant, Meghana Vemulapalli, Luhe Mian, Chulaluck Kuptanon, Joshi Stephen, Marjan Huizing, James C. Mullikin, Courtney M. Sinclair
المصدر: Human Genetics. 136:399-408
مصطلحات موضوعية: Male, 0301 basic medicine, 030105 genetics & heredity, Biology, Compound heterozygosity, Ciliopathies, Retina, Article, Joubert syndrome, 03 medical and health sciences, Exon, Cerebellum, Ciliogenesis, Genetics, medicine, Intronic Mutation, Animals, Humans, Missense mutation, Abnormalities, Multiple, Amino Acid Sequence, Eye Abnormalities, Child, Genetics (clinical), Exome sequencing, Sequence Homology, Amino Acid, Kidney Diseases, Cystic, medicine.disease, eye diseases, 030104 developmental biology, Growth Hormone, Mutation, Female, Microtubule-Associated Proteins
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5
المؤلفون: Meral Gunay-Aygun, Joshi Stephen, Daniel Konzman, Jennifer Guo, James C. Mullikin, Roxanne Fischer, Dino Maglic, William A. Gahl, May Christine V. Malicdan, Thierry Vilboux
المصدر: Human Mutation. 37:1144-1148
مصطلحات موضوعية: 0301 basic medicine, Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Occipital encephalocele, Polydactyly, Genetic heterogeneity, 030105 genetics & heredity, Biology, medicine.disease, Brother, Ciliopathies, 03 medical and health sciences, Exon, 030104 developmental biology, medicine, Missense mutation, Genetics (clinical), Exome sequencing
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6
المؤلفون: Borna Mehrad, Marie D. Burdick, Jae K. Lee, Robert M. Strieter, Thomas C. Markello, Youngchul Kim, Roxanne Fischer, William A. Gahl, Bernadette R. Gochuico, Aaron T. Trimble
المصدر: American Journal of Respiratory and Critical Care Medicine. 190:1395-1401
مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Pathology, medicine.medical_specialty, education.field_of_study, Lung, business.industry, Population, Case-control study, respiratory system, Critical Care and Intensive Care Medicine, CXCR4, respiratory tract diseases, Pathogenesis, medicine.anatomical_structure, Fibrocyte, Immunology, medicine, Biomarker (medicine), education, business, Survival analysis
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7
المؤلفون: Joy Bryant, Meral Gunay-Aygun, Marjan Huizing, Roxanne Fischer, N. Banks, William A. Gahl
المصدر: Archives of Gynecology and Obstetrics. 291:705-708
مصطلحات موضوعية: Adult, medicine.medical_specialty, Physiology, Reproductive age, urologic and male genital diseases, Article, Pregnancy, Internal medicine, medicine, Humans, Child, Polycystic Kidney, Autosomal Recessive, business.industry, Pregnancy Outcome, Obstetrics and Gynecology, General Medicine, Middle Aged, Autosomal recessive polycystic kidney disease (ARPKD), medicine.disease, female genital diseases and pregnancy complications, Human genetics, Autosomal Recessive Polycystic Kidney Disease, Pregnancy Complications, Ciliopathy, Endocrinology, Female, business
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المؤلفون: Charles J. Billington, Roxanne Fischer, Ann C.M. Smith, William A. Gahl, Thierry Vilboux, Nisc Comparative Sequencing Program, Carla Ciccone, Andrea L. Gropman, James C. Mullikin, Seth I. Berger, Karen L. Simon, Wendy J. Introne, May Christine V. Malicdan, Marjan Huizing, Jan Blancato
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Adolescent, Biology, Article, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Genetics, medicine, Missense mutation, Animals, Guanine Nucleotide Exchange Factors, Humans, Exome, Amino Acid Sequence, Allele, Gene, Genetics (clinical), Exome sequencing, Sequence Homology, Amino Acid, Tumor Suppressor Proteins, Nuclear Proteins, medicine.disease, Phenotype, Human genetics, DNA-Binding Proteins, 030104 developmental biology, Child, Preschool, Trans-Activators, Female, Smith-Magenis Syndrome, 030217 neurology & neurosurgery, Transcription Factors
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4742c0929320a0d4f93826681047aa6
https://europepmc.org/articles/PMC5848494/ -
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المؤلفون: Dino, Maglic, Joshi, Stephen, May Christine V, Malicdan, Jennifer, Guo, Roxanne, Fischer, Daniel, Konzman, James C, Mullikin, William A, Gahl, Thierry, Vilboux, Meral, Gunay-Aygun
المصدر: Human mutation. 37(11)
مصطلحات موضوعية: Male, Polycystic Kidney Diseases, Gene Conversion, Mutation, Missense, Membrane Proteins, Sequence Analysis, DNA, Kidney Diseases, Cystic, Retina, Pedigree, Cerebellum, Humans, Abnormalities, Multiple, Exome, Female, Eye Abnormalities, Retinitis Pigmentosa, Ciliary Motility Disorders, Encephalocele
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المؤلفون: Andrew R. Cullinane, Nisc Comparative Sequencing Program, Deniz Yildirimli, Joy Bryant, Peter J. Steinbach, Joseph C. Roney, Thierry Vilboux, Meral Gunay-Aygun, Meghana Vemulapalli, May Christine V. Malicdan, Joshi Stephen, Roxanne Fischer, William A. Gahl, James C. Mullikin
المصدر: Am J Med Genet A
مصطلحات موضوعية: 0301 basic medicine, Models, Molecular, Protein Conformation, 030105 genetics & heredity, Biology, Polymorphism, Single Nucleotide, Joubert syndrome, Retina, Article, Growth hormone deficiency, 03 medical and health sciences, Putative gene, Cerebellum, Genetics, medicine, Humans, Microphthalmos, Abnormalities, Multiple, Eye Abnormalities, Child, Gene, Genetics (clinical), Alleles, Human Growth Hormone, Cilium, Facies, High-Throughput Nucleotide Sequencing, Kidney Diseases, Cystic, medicine.disease, Cadherins, Magnetic Resonance Imaging, eye diseases, Ciliopathy, 030104 developmental biology, Mutation, Axon guidance, Female, Neural development