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1دورية أكاديمية
المؤلفون: Bahareh A. Mojarad, Patricia V. Hernandez, Michael J. Evenson, Meagan M. Corliss, Sarah L. Stein, Amy Theos, Carrie C. Coughlin, Bryan Sisk, Maithilee Menezes, Molly C. Schroeder, Jonathan W. Heusel, Julie A. Neidich, Yang Cao
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100815- (2023)
مصطلحات موضوعية: NGS, PIK3CA, PIK3CA-related overgrowth spectrum, PROS, Somatic mosaicism, Genetics, QH426-470, Medicine
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Ludmila Perelygina, Raeesa Faisthalab, Emily Abernathy, Min-hsin Chen, LiJuan Hao, Lionel Bercovitch, Diana K. Bayer, Lenora M. Noroski, Michael T. Lam, Maria Pia Cicalese, Waleed Al-Herz, Arti Nanda, Joud Hajjar, Koen Vanden Driessche, Shari Schroven, Julie Leysen, Misha Rosenbach, Philipp Peters, Johannes Raedler, Michael H. Albert, Roshini S. Abraham, Hemalatha G. Rangarjan, David Buchbinder, Lisa Kobrynski, Anne Pham-Huy, Julie Dhossche, Charlotte Cunningham Rundles, Anna K. Meyer, Amy Theos, T. Prescott Atkinson, Amy Musiek, Mehdi Adeli, Ute Derichs, Christoph Walz, Renate Krüger, Horst von Bernuth, Christoph Klein, Joseph Icenogle, Fabian Hauck, Kathleen E. Sullivan
المصدر: Frontiers in Immunology, Vol 12 (2021)
مصطلحات موضوعية: inborn errors of immunity, primary immunodeficiency, vaccine-derived rubella viruses, granulomatous inflammation, skin lesion, neutrophils, Immunologic diseases. Allergy, RC581-607
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Ashley Cannon, Mei-Jan Chen, Peng Li, Kevin P. Boyd, Amy Theos, David T. Redden, Bruce Korf
المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-7 (2018)
مصطلحات موضوعية: Neurofibromatosis type 1, Cutaneous neurofibromas, Natural history study, Random effect modeling, Medicine
وصف الملف: electronic resource
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المؤلفون: Natalie Garcia, Victoria Jiminez, Abigail Smith, Amy Theos
المصدر: SKIN The Journal of Cutaneous Medicine. 7:642-644
مصطلحات موضوعية: Dermatology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::60a0338668d31cb3fc31b7edc171edc2
https://doi.org/10.25251/skin.7.1.18 -
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المؤلفون: Sydney A. Weir, Sima Amin, Alyssa Higgins, David Kelly, Amy Theos
المصدر: Proc (Bayl Univ Med Cent)
مصطلحات موضوعية: General Medicine, Original Research: Dermatology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7e57e835d4c293689fbedee32e9d08a
https://europepmc.org/articles/PMC10269409/ -
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المؤلفون: Amy Theos, Kevin P. Boyd, Bruce R. Korf
المصدر: Harper's Textbook of Pediatric Dermatology. :1823-1836
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2f669d49ae50e278b462cd235647d604
https://doi.org/10.1002/9781119142812.ch142 -
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المؤلفون: Giulio Piluso, Katharina Wimmer, Veronica Saletti, Eniko K. Pivnick, Geraldine Kelly-Mancuso, Karen W. Gripp, Cristin Griffis, Louanne Hudgins, Alessandro De Luca, Michael F. Wangler, M. Daniela D'Agostino, Marica Eoli, Cynthia M. Powell, Laura A. Baker, Mayra Martinez Ojeda, Silvia Esposito, Elizabeth A. Sellars, Kory Keller, David D. Weaver, James T. Bennett, Nicole J. Ullrich, Allison L. Goetsch, Donald Basel, Bruce R. Korf, Stephanie Fox, Katelyn Hodge, Laura Dosa, Robert S. Greenwood, Mario Bengala, Andrea M. Lewis, Ruth Sheffer, Valentina Pinna, Fanny Cortés, Dusica Babovic-Vuksanovic, Aaina Kochhar, Rosemarie Smith, Concepción Hernández-Chico, Elizabeth Siqveland, Robert Listernick, Lola K. Clarkson, Punita Gupta, E. Haan, Martin B. Delatycki, Amy Theos, Noa Ruhrman Shahar, Teresa Giugliano, Carey McDougall, Mitch Cunningham, David W. Stockton, Tom Callens, Maria Cristina Digilio, Yunjia Chen, Ludwine Messiaen, Eva Trevisson, Samantha A. Schrier Vergano, Caleb Rogers, Magdalena Koczkowska, Kathleen Claes, Christine Fauth, Jan Liebelt, Pamela Trapane, Eric Johns, John M. Slopis, Chelsea Chambers, Tamara L. Haygarth, Lesley K. McGregor, Alberto Spalice, Małgorzata J.M. Nowaczyk, Mary Ella M Pierpont, Kaleb Yohay, Alicia Gomes, Vickie Zurcher, Gail E. Tomlinson, Angie W. Lichty, Stephanie E Wallace, Rachel K. Hachen, Isabelle Maystadt, S. Lane Rutledge, Yael Goldberg, Grace Tran, Ulrich A. Schatz, Allison Schreiber, Jenneke van den Ende, Michael J. Lyons, Mary Louise Freckmann, Kim Armfield Uhas, Alesha D. Hicks, Maurizio Clementi, Haley Streff, June Ortenberg, John Pappas, Nancy J. Mendelsohn, Sandra Janssens, Karin Panzer, Yolanda Martin, Elaine H. Zackai, Sandra Giustini, Linlea Armstrong, Katherine A. Bosanko, Angela Sharp, Daryl A. Scott, Jonathan Zonana, Robert J. Hopkin, Eric Legius, Dinel A. Pond, Daniela Melis, Claudia Santoro, Sarah A. Sandaradura
المصدر: Human Mutation. 41:299-315
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, 0303 health sciences, medicine.medical_specialty, education.field_of_study, Pulmonic stenosis, 030305 genetics & heredity, Population, Spinal neurofibromas, Biology, medicine.disease, Phenotype, Gastroenterology, nervous system diseases, 03 medical and health sciences, Internal medicine, Cohort, Genetics, medicine, Missense mutation, Noonan syndrome, Neurofibromatosis, education, Genetics (clinical), 030304 developmental biology
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المؤلفون: Hana Alachkar, Kathleen E. Sullivan, Claire Bethune, Erica Brittain, Niall Conlon, Neil Romberg, Claire Langley, Shanmuganathan Chandrakasan, Daniel Veltri, Matthew C. Cook, Bahar Miraghazadeh, Kelly D. Stone, Stefanie Frey-Jakobs, Jeffrey I. Cohen, Andrew L. Snow, Sinisa Savic, Sophie Hambleton, Maria Cecilia Poli, Arturo Borzutzky, Alexandra F. Freeman, Jeffrey R. Stinson, Michael B. Jordan, Michael A. Weinreich, T. Prescott Atkinson, Troy R. Torgerson, Michele P. Lambert, Alejandro A. Schäffer, T. Ronan Leahy, Celeste G Nelson, Peter D. Arkwright, Ivan K. Chinn, Stephan Weidinger, Laura Lucas, Tracy A Briggs, Martha Nason, Kenneth Paris, Smita Y. Patel, Sandhya Limaye, Sebastian Fuchs, Julia M. Hartberger, Bodo Grimbacher, Batsukh Dorjbal, Stephan Ehl, Amy Theos, Sergey Nejentsev, Andrew F. Whyte, Lena Moebus, Andrew J. Oler, Thomas DiMaggio, Joie Davis, Andre Franke, Chi Ma, Joshua D. Milner, Alla Bulashevska, Jeffrey D. Lebensburger
المصدر: Journal of Allergy and Clinical Immunology. 143:1482-1495
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Immunology, CARD11, Biology, medicine.disease_cause, Germline, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Immunology and Allergy, Allele, Loss function, Exome sequencing, Genetics, Immune dysregulation, medicine.disease, Phenotype, CARD Signaling Adaptor Proteins, 030104 developmental biology, Immune System Diseases, Guanylate Cyclase, Mutation, Primary immunodeficiency, Female, 030215 immunology
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المؤلفون: Amy Theos, Callie R. Hill
المصدر: Dermatologic Clinics. 37:229-239
مصطلحات موضوعية: Class I Phosphatidylinositol 3-Kinases, Vascular Malformations, Basal Cell Nevus Syndrome, Dermatology, Nervous System Malformations, Bioinformatics, DNA sequencing, Proteus Syndrome, 030207 dermatology & venereal diseases, 03 medical and health sciences, Tuberous sclerosis, Autoimmune Diseases of the Nervous System, 0302 clinical medicine, Molecular level, Tuberous Sclerosis, medicine, Humans, Janus Kinase Inhibitors, Genetic Testing, Nevus, Protein Kinase Inhibitors, Gene, Mosaicism, business.industry, TOR Serine-Threonine Kinases, Hereditary Autoinflammatory Diseases, Disease mechanisms, High-Throughput Nucleotide Sequencing, Skin Diseases, Genetic, Sequence Analysis, DNA, Ichthyosiform Erythroderma, Congenital, medicine.disease, Genetic Skin Diseases, Musculoskeletal Abnormalities, Molecular Diagnostic Techniques, Dermabrasion, 030220 oncology & carcinogenesis, Pityriasis Rubra Pilaris, Molecular targets, Ustekinumab, Dermatologic Agents, Laser Therapy, Lipoma, business, Proto-Oncogene Proteins c-akt, Sunscreening Agents
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المؤلفون: Alexander Maley, Barbara Binder, Adam E. Bennett, Karina L. Vivar, Keith A. Choate, Yasushi Ogawa, Amy Theos, Robert Sidbury, Earl J. Glusac, Gabriele Richard, Evelyn Lilly, Mary K. Spraker, Smail Hadj-Rabia, Masashi Akiyama, Raffaella A. Morotti, Shali Zhang, Lucia Seminario-Vidal, Christopher G. Bunick, Leonard M. Milstone
المصدر: Journal of the American Academy of Dermatology. 80:617-625
مصطلحات موضوعية: Male, Models, Molecular, Pediatrics, medicine.medical_specialty, Genotype, Dermatology, Serious infection, Deafness, Poor weight gain, Connexins, Infant Death, Article, Congenital Abnormalities, Keratitis, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, otorhinolaryngologic diseases, Humans, Medicine, Genotyping, Molecular Structure, business.industry, Ichthyosis, Body Weight, Infant, Newborn, Infant, medicine.disease, humanities, Pathophysiology, Infant mortality, Failure to Thrive, Connexin 26, 030220 oncology & carcinogenesis, Mutation, Female, Respiratory Tract Fistula, business