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1دورية أكاديمية
المؤلفون: Christopher Song, Wendy Introne, Kevin O'Brien, Srikar Kuppa, Thomas Markello, William Gahl, May Christine Malicdan, Allan Alexander
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101040- (2024)
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Kristin M. Ates, Tong Wang, Trevor Moreland, Rajalakshmi Veeranan-Karmegam, Manxiu Ma, Chelsi Jeter, Priya Anand, Wolfgang Wenzel, Hyung-Goo Kim, Lynne A. Wolfe, Joshi Stephen, David R. Adams, Thomas Markello, Cynthia J. Tifft, Robert Settlage, William A. Gahl, Graydon B. Gonsalvez, May Christine Malicdan, Heather Flanagan-Steet, Y. Albert Pan
المصدر: Disease Models & Mechanisms, Vol 13, Iss 5 (2020)
مصطلحات موضوعية: pheta1, ipip27a, ocrl, endocytosis, undiagnosed disease, Medicine, Pathology, RB1-214
وصف الملف: electronic resource
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3دورية 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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4دورية أكاديمية
المؤلفون: Tyler Mark Pierson, David Adams, Florian Bonn, Paola Martinelli, Praveen F. Cherukuri, Jamie K. Teer, Nancy F. Hansen, Pedro Cruz, James C. Mullikin, Robert W. Blakesley, Gretchen Golas, Justin Kwan, Anthony Sandler, Karin Fuentes Fajardo, Thomas Markello, Cynthia Tifft, Craig Blackstone, Elena I. Rugarli, Thomas Langer, William A. Gahl, Camilo Toro
المصدر: PLoS Genetics, Vol 9, Iss 2 (2013)
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Tyler Mark Pierson, David Adams, Florian Bonn, Paola Martinelli, Praveen F Cherukuri, Jamie K Teer, Nancy F Hansen, Pedro Cruz, James C Mullikin For The Nisc Comparative Sequencing Program, Robert W Blakesley, Gretchen Golas, Justin Kwan, Anthony Sandler, Karin Fuentes Fajardo, Thomas Markello, Cynthia Tifft, Craig Blackstone, Elena I Rugarli, Thomas Langer, William A Gahl, Camilo Toro
المصدر: PLoS Genetics, Vol 7, Iss 10, p e1002325 (2011)
وصف الملف: electronic resource
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6
المؤلفون: Eric, Delpire, Lynne, Wolfe, Bianca, Flores, Rainelli, Koumangoye, Cara C, Schornak, Salma, Omer, Barbara, Pusey, Christopher, Lau, Thomas, Markello, David R, Adams
المصدر: Cold Spring Harbor Molecular Case Studies
مصطلحات موضوعية: autonomic bladder dysfunction, Adolescent, Sodium-Potassium-Chloride Symporters, Cell Membrane, Sodium, Sodium, Dietary, Fibroblasts, orthostatic hypotension, Chlorides, Mutation, Exome Sequencing, Humans, Solute Carrier Family 12, Member 2, Female, small intestinal dysmotility, Carrier Proteins, chronic pain, Alleles, Sequence Deletion, Research Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::aba19490653d0e4526ef1d6f1f6b1db3
https://pubmed.ncbi.nlm.nih.gov/27900370 -
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المصدر: Clinical Genetics. 48:195-198
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Isochromosome, Aneuploidy, Biology, Trisomy 8, Anasarca, Pregnancy, Genetics, medicine, Humans, Abnormalities, Multiple, Agenesis of the corpus callosum, In Situ Hybridization, Fluorescence, Genetics (clinical), Mosaicism, Infant, Newborn, medicine.disease, Chromosome Banding, Isochromosomes, Agenesis, Tetrasomy, Female, medicine.symptom, Trisomy, Chromosomes, Human, Pair 8
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8
المؤلفون: Joseph S. Coselli, Dianna M. Milewicz, Nancy Fisher, Alan Biddinger, Thomas Markello, Kristi Michael
المصدر: Circulation. 94:2708-2711
مصطلحات موضوعية: Adult, Male, musculoskeletal diseases, Marfan syndrome, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Fibrillin-1, Fibrillins, medicine.disease_cause, Aortic aneurysm, Aneurysm, Physiology (medical), medicine.artery, medicine, Humans, Thoracic aorta, cardiovascular diseases, Polymorphism, Single-Stranded Conformational, Skin, Aorta, Mutation, Aortic Aneurysm, Thoracic, Genome, Human, business.industry, Vascular disease, Microfilament Proteins, DNA, Fibroblasts, medicine.disease, cardiovascular system, Cardiology and Cardiovascular Medicine, business, Fibrillin
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::897e6d651cea859d3758af1e68ec5de0
https://doi.org/10.1161/01.cir.94.11.2708 -
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المؤلفون: Pedro A. Sanchez-Lara, Uta Lichter-Konecki, Dina J. Zand, Can Ficicioglu, Jaya Ganesh, Matthew A. Deardorff, Thomas Markello, Neal Sondheimer, Nancy B. Spinner, Hakon Hakonarson, Himabindu Gaddipati, Brett Loechelt, Paige Kaplan, Marc Yudkoff
المصدر: Molecular genetics and metabolism. 94(4)
مصطلحات موضوعية: Male, Endocrinology, Diabetes and Metabolism, Copy number analysis, Ornithine transcarbamylase, Neonatal onset, Biology, Granulomatous Disease, Chronic, Biochemistry, Anasarca, Article, Endocrinology, Chronic granulomatous disease, Fatal Outcome, Retinitis pigmentosa, Genetics, medicine, Humans, McLeod syndrome, Molecular Biology, Ornithine Carbamoyltransferase, Chromosomes, Human, X, Chromosome Mapping, Infant, Genetic Diseases, X-Linked, medicine.disease, Ornithine Carbamoyltransferase Deficiency Disease, medicine.symptom, Gene Deletion, Retinitis Pigmentosa, SNP array