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1
المؤلفون: Stephanie E Wallace, Karina Newhall, Sherene Shalhub, Osa Okunbor
المصدر: Seminars in Vascular Surgery. 34:79-88
مصطلحات موضوعية: Male, medicine.medical_specialty, Aortic Diseases, 030232 urology & nephrology, MEDLINE, 030204 cardiovascular system & hematology, Risk Assessment, Aortic disease, 03 medical and health sciences, Sex Factors, 0302 clinical medicine, Risk Factors, Health care, Epidemiology, Humans, Medicine, Genetic Predisposition to Disease, Healthcare Disparities, Intensive care medicine, business.industry, Age Factors, United States, Race Factors, Treatment Outcome, Etiology, Female, Surgery, Patient input, Management principles, Cardiology and Cardiovascular Medicine, business, Risk assessment
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المؤلفون: Dongchuan Guo, Natasha Kharas, Michael J. Bamshad, Ellen M. Hostetler, Stephanie E. Wallace, Stéphanie Guey, Markus Kraemer, Anjail Sharrief, Ellen S. Regalado, Deborah A. Nickerson, Alana C. Cecchi, Manoelle Kossorotoff, Elisabeth Tournier-Lasserve, Amélie Pinard, Françoise Bergametti, Dianna M. Milewicz, Edward R. Smith, Dominique Hervé
المصدر: Genet Med
مصطلحات موضوعية: Adult, Male, Proband, Heart disease, Developmental Disabilities, Cell Cycle Proteins, Disease, Article, Chromatin remodeling, Angiopathy, Pleiotropy, Intellectual Disability, Exome Sequencing, medicine, Humans, Exome, Genetic Predisposition to Disease, Child, Genetics (clinical), Exome sequencing, Genetics, business.industry, DNA Helicases, Nuclear Proteins, food and beverages, Methyltransferases, Middle Aged, medicine.disease, Human genetics, Cerebrovascular Disorders, Child, Preschool, Mutation, Female, Moyamoya Disease, business, Mi-2 Nucleosome Remodeling and Deacetylase Complex, Transcription Factors
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3
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: Asmaa El-Ghazali, Stephanie E. Wallace, Kyle Wu, Jimmy Nguyen, Peter Byers, Sherene Shalhub
المصدر: Journal of Vascular Surgery. 75:e44-e45
مصطلحات موضوعية: Surgery, Cardiology and Cardiovascular Medicine
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5
المؤلفون: Kwanghyuk Lee, Pauline Arnaud, Guillaume Jondeau, Dianna M. Milewicz, Sarah Dyack, Julie De Backer, Rajani D. Aatre, Stephanie E. Wallace, Dongchuan Guo, Catherine Boileau, Andrea L. Rideout, Ellen S. Regalado, Ellen M. Hostetler, Nadine Hanna, Bert Callewaert, Laura Muiño-Mosquera, Suzanne M. Leal
المصدر: Journal of Medical Genetics. 56:252-260
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Variant type, business.industry, 030204 cardiovascular system & hematology, medicine.disease, Penetrance, 03 medical and health sciences, Dissection, 030104 developmental biology, 0302 clinical medicine, Aneurysm, Internal medicine, Cohort, Genetics, medicine, Cardiology, Missense mutation, Age of onset, Haploinsufficiency, business, Genetics (clinical)
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المؤلفون: Alexandra Janda, Stephanie E. Wallace, Claudio F. Russo, Dongchuan Guo, Guillaume Jondeau, Dianna M. Milewicz, Ellen M. Hostetler, Catherine Boileau, Nadine Hanna, Roberto Colombo, Tami Johnston, Bo Carlberg, Kwanghyuk Lee, Christian Antolik, Ellen S. Regalado, Suzanne M. Leal, Limin Gong, Richard J. Kulmacz, Matias Hannuksela, Pauline Arnaud
المصدر: Genetics in Medicine. 21:144-151
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Heterozygote, MYLK, Myosin light-chain kinase, Aortic Diseases, macromolecular substances, 030105 genetics & heredity, Biology, thoracic aortic surgery, Aortic disease, 03 medical and health sciences, Aneurysm, Dissecting, Pregnancy, Myosin, medicine, Humans, Missense mutation, Genetic Testing, hereditary thoracic aortic disease, Myosin-Light-Chain Kinase, Settore BIO/10 - BIOCHIMICA, Aorta, Genetics (clinical), Aged, Genetic testing, Genetics, acute aortic dissection, medicine.diagnostic_test, Kinase, Calcium-Binding Proteins, High-Throughput Nucleotide Sequencing, food and beverages, Heterozygote advantage, Middle Aged, Aneurysm, Pedigree, 3. Good health, 030104 developmental biology, Female, myosin light-chain kinase, Dissecting
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المؤلفون: Stephanie E Wallace, Thomas D. Bird
المصدر: Neurology: Clinical Practice. 8:27-32
مصطلحات موضوعية: 0301 basic medicine, Genetics, Ataxia, Sequence analysis, business.industry, Molecular genetic testing, Review, medicine.disease, Phenotype, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, medicine, Etiology, Spinocerebellar ataxia type 6, Neurology (clinical), medicine.symptom, business, Gene, 030217 neurology & neurosurgery, Exome sequencing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd41b22b6d47b52c23df5581ffff4b20
https://doi.org/10.1212/cpj.0000000000000421 -
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المؤلفون: Michael J. Smith, Sara Gilvary, Siobhan M. Dolan, Stephanie E. Wallace
المصدر: Journal of Genetic Counseling. 27:656-664
مصطلحات موضوعية: Adult, Parents, 0301 basic medicine, medicine.medical_specialty, Online support groups, Genetic counseling, Decision Making, Genetic Counseling, Trisomy, Prenatal diagnosis, Prenatal care, 030105 genetics & heredity, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Physicians, Prenatal Diagnosis, Surveys and Questionnaires, 030225 pediatrics, Humans, Medicine, Family, Genetics (clinical), Chromosomes, Human, Pair 13, business.industry, Obstetrics, Public health, Social Support, medicine.disease, Family medicine, Female, Chromosomes, Human, Pair 18, business, Healthcare providers
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9
المؤلفون: John Demasi, Daphne S. Fulton, Vascular Ehlers-Danlos Syndrome Collaborative, Liz Sage, Lara Bloom, Peter H. Byers, Sherene Shalhub, Stephanie E. Wallace, Martha Driessnack
المصدر: Annals of vascular surgery. 62
مصطلحات موضوعية: medicine.medical_specialty, Health Knowledge, Attitudes, Practice, Biomedical Research, Attitude of Health Personnel, MEDLINE, 030204 cardiovascular system & hematology, 030218 nuclear medicine & medical imaging, Access to Information, 03 medical and health sciences, 0302 clinical medicine, Cost of Illness, Surveys and Questionnaires, Patient experience, Health care, medicine, Humans, Social media, Confidentiality, Cooperative Behavior, Motivation, Physician-Patient Relations, business.industry, Medical record, General Medicine, Geneticist, Altruism, Health Communication, Family medicine, Information source, Quality of Life, Surgery, Ehlers-Danlos Syndrome, Patient Participation, Cardiology and Cardiovascular Medicine, business
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المؤلفون: Dongchuan Guo, Vladimir Berka, Dianna M. Milewicz, Stephanie E. Wallace, Emil Martin, R. Marom, Michael J. Bamshad, Lauren Mellor-Crummey, Vijeya Ganesan, Ellen S. Regalado, Dawn E. Saunders, Robert C. Dauser, Shaine A. Morris, Neil A. Hanchard, Deborah A. Nickerson, Iraida Sharina
المصدر: Clinical Genetics. 90:351-360
مصطلحات موضوعية: 0301 basic medicine, Genetics, medicine.medical_specialty, education.field_of_study, business.industry, Population, GUCY1A3, Achalasia, Compound heterozygosity, medicine.disease, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Endocrinology, Internal medicine, medicine, Missense mutation, Moyamoya disease, Allele, Haploinsufficiency, education, business, 030217 neurology & neurosurgery, Genetics (clinical)