المؤلفون: Yonit A. Addissie, Paul Kruszka, Angela Troia, Zoë C. Wong, Joshua L. Everson, Beth A. Kozel, Robert J. Lipinski, Kristen M. C. Malecki, Maximilian Muenke

المصدر: Environmental Health, Vol 19, Iss 1, Pp 1-13 (2020)

مصطلحات موضوعية: Pesticides, Holoprosencephaly, Forebrain defect, Environmental exposure, Prenatal exposure, Industrial medicine. Industrial hygiene, RC963-969, Public aspects of medicine, RA1-1270

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s12940-020-00611-zTest; https://doaj.org/toc/1476-069XTest

الوصول الحر: https://doaj.org/article/b860ee5ed34445d3aacaebfce021f2d1Test

المؤلفون: Beth A. Kozel, Paul Kruszka, Maximilian Muenke, Zoë C. Wong, Robert J. Lipinski, Kristen Malecki, Joshua L. Everson, Angela Troia, Yonit A. Addissie

المصدر: Birth Defects Res

مصطلحات موضوعية: 0301 basic medicine, Embryology, Pediatrics, medicine.medical_specialty, Health, Toxicology and Mutagenesis, medicine.medical_treatment, 030105 genetics & heredity, Toxicology, Article, Support group, Odds, 03 medical and health sciences, Holoprosencephaly, Pregnancy, Risk Factors, Humans, Medicine, Child, Retrospective Studies, business.industry, Case-control study, Odds ratio, medicine.disease, Child development, 030104 developmental biology, Case-Control Studies, Pediatrics, Perinatology and Child Health, Forebrain, Female, Gene-Environment Interaction, business, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2218d5fb72bffd8fd3f91a3ff9fb379cTest
https://doi.org/10.1002/bdr2.1834Test

المؤلفون: Sato Ashida, Dina Eliezer, Donald W. Hadley, Yonit A. Addissie, Laura M. Koehly, Andrea F. Goergen

المصدر: Scientific Reports, Vol 10, Iss 1, Pp 1-10 (2020)
Scientific Reports

مصطلحات موضوعية: Adult, Male, Health Knowledge, Attitudes, Practice, Heterozygote, medicine.medical_specialty, Genetic testing, Colorectal cancer, Cross-sectional study, Science, MEDLINE, Colonoscopy, Article, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Health care, medicine, Humans, Family, Genetic Predisposition to Disease, Cancer genetics, Preventive medicine, Multidisciplinary, medicine.diagnostic_test, business.industry, Middle Aged, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, United States, Lynch syndrome, Colon cancer, Risk perception, Cross-Sectional Studies, 030220 oncology & carcinogenesis, Family medicine, Colonic Neoplasms, Mutation, Medicine, Female, 030211 gastroenterology & hepatology, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::993c685ee63de116befbec54fb5a1245Test
https://doaj.org/article/1af8410c7b864d978d1859b9c261daf3Test

المؤلفون: Brady Gaynor, Yonit A Addissie, Steven J. Kittner, Huichun Xu, Thomas Jaworek, Colin O Stine, John W. Cole, Braxton D. Mitchell

المصدر: Stroke. 52

مصطلحات موضوعية: Advanced and Specialized Nursing, medicine.medical_specialty, Lacunar stroke, business.industry, Plasma levels, Fibrinogen, medicine.disease, Tissue plasminogen activator, Thrombosis, Endocrinology, Internal medicine, D-dimer, Ischemic stroke, medicine, Polygenic risk score, cardiovascular diseases, Neurology (clinical), Cardiology and Cardiovascular Medicine, business, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::48dcce1cf5994c822a6cb4925f7edcb5Test
https://doi.org/10.1161/str.52.suppl_1.p663Test

المؤلفون: Adebowale Adeyemo, Paul Kruszka, Hanhan Liu, Cedrik Tekendo-Ngongang, Akinsanya Olusegun-Joseph, Babajide Owosela, Desmond Ikebudu, Ariel F. Martinez, Zhe Han, Yonit A. Addissie, Ogochukwu J. Sokunbi, Nnenna Kalu, Seth I. Berger, Maximilian Muenke, Ekanem N. Ekure

المصدر: Circ Genom Precis Med

مصطلحات موضوعية: 0301 basic medicine, Heart Defects, Congenital, Male, Pediatrics, medicine.medical_specialty, Heterozygote, Sub saharan, Heart disease, Nigeria, 030204 cardiovascular system & hematology, Article, 03 medical and health sciences, Global population, 0302 clinical medicine, Loss of Function Mutation, Exome Sequencing, medicine, Animals, Humans, cardiovascular diseases, Exome, Exome sequencing, Tetralogy of Fallot, business.industry, Ubiquitin, Myocardium, Infant, General Medicine, medicine.disease, 030104 developmental biology, Child, Preschool, Drosophila, Female, RNA Interference, business, Eukaryotic Initiation Factor-4G

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3aff81d6a5155d5696ce7ea4b5f8afe9Test
https://pubmed.ncbi.nlm.nih.gov/33448881Test

المؤلفون: Leah Dowsett, Omar A. Abdul-Rahman, Kelly L. Jones, Nicole Fleischer, Leon Mutesa, Babajide Owosela, María Gabriela Obregon, Victoria Huckstadt, Ebenezer Badoe, Bryan Malonga, Ekanem N. Ekure, Neerja Gupta, Ho Ming Luk, Gerarda Cappuccio, Engy A. Ashaat, Alicia Diaz-Kuan, Mona O. El Ruby, Jasmine L.F. Fung, Paul Kruszka, Stephanie Lotz-Esquivel, Nirmala D. Sirisena, Monica Penon Portmann, Carolyn Sian Kitchin, Cedrik Tekendo-Ngongang, Ifeanyi Kanayo Ifeorah, Meow-Keong Thong, Annette Uwineza, Sansan Lee, Yonit A. Addissie, Brian H.Y. Chung, Ivan F M Lo, Dalia Farouk Hussen, Angélica Moresco, Vajira H. W. Dissanayake, Maximilian Muenke, Nicola Brunetti-Pierri, Eloise J. Prijoles, Ramses Badilla-Porras, Roger E. Stevenson, Leticia Cassimiro Batista, Manuel Saborio-Rocafort, Danilo Moretti-Ferreira, Arianne Llamos Paneque

المساهمون: Tekendo-Ngongang, Cedrik, Owosela, Babajide, Fleischer, Nicole, Addissie, Yonit A, Malonga, Bryan, Badoe, Ebenezer, Gupta, Neerja, Moresco, Angélica, Huckstadt, Victoria, Ashaat, Engy A, Hussen, Dalia Farouk, Luk, Ho-Ming, Lo, Ivan F M, Hon-Yin Chung, Brian, Fung, Jasmine L F, Moretti-Ferreira, Danilo, Batista, Letícia Cassimiro, Lotz-Esquivel, Stephanie, Saborio-Rocafort, Manuel, Badilla-Porras, Ramse, Penon Portmann, Monica, Jones, Kelly L, Abdul-Rahman, Omar A, Uwineza, Annette, Prijoles, Eloise J, Ifeorah, Ifeanyi Kanayo, Llamos Paneque, Arianne, Sirisena, Nirmala D, Dowsett, Leah, Lee, Sansan, Cappuccio, Gerarda, Kitchin, Carolyn Sian, Diaz-Kuan, Alicia, Thong, Meow-Keong, Obregon, María Gabriela, Mutesa, Leon, Dissanayake, Vajira H W, El Ruby, Mona O, Brunetti-Pierri, Nicola, Ekure, Ekanem Nsikak, Stevenson, Roger E, Muenke, Maximilian, Kruszka, Paul, The National Institutes of Health, FDNA Inc., College of Health Sciences, All India Institute of Medical Sciences, Hospital de Pediatría Garrahan, National Research Centre, Hong Kong Special Administrative Region, Universidade Estadual Paulista (Unesp), Hospital San Juan de Dios (CCSS), National Children's Hospital Dr. Carlos Sáenz Herrera (CCSS), University of California San Francisco, Children's Hospital of The King's Daughters, University of Nebraska Medical Center, University of Rwanda, Greenwood Genetic Center, Nigerian Air Force, School of Dentistry, University of Colombo, Kapi'olani Medical Center and University of Hawai'i, Federico II University, Telethon Institute of Genetics and Medicine (TIGEM), University of Cape Town, Instituto de Medicina Genética, University of Malaya, University of Lagos, American College of Medical Genetics and Genomics

المصدر: Scopus
Repositório Institucional da UNESP
Universidade Estadual Paulista (UNESP)
instacron:UNESP

مصطلحات موضوعية: Adult, Male, Rubinstein–Taybi syndrome, Pediatrics, medicine.medical_specialty, Asia, Adolescent, Population, facial analysis technology, Physical examination, African Group, European descent, Cohort Studies, Middle East, Young Adult, Intellectual disability, Genetics, medicine, Ethnicity, Humans, Craniofacial, education, Child, Genetics (clinical), Genetic Association Studies, Rubinstein-Taybi Syndrome, education.field_of_study, medicine.diagnostic_test, Receiver operating characteristic, business.industry, Infant, International Agencies, Middle Aged, medicine.disease, Prognosis, Latin America, Genetics, Population, Case-Control Studies, Child, Preschool, Face, Africa, Mutation, Female, business, E1A-Associated p300 Protein

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca82666415ba7ee9475ce70da2da1f9fTest
https://pubmed.ncbi.nlm.nih.gov/32985117Test

المؤلفون: Maximilian Muenke, Beth A. Kozel, Angela Troia, Zoë C. Wong, Robert J. Lipinski, Paul Kruszka, Kristen Malecki, Joshua L. Everson, Yonit A. Addissie

المصدر: Environmental Health
Environmental Health, Vol 19, Iss 1, Pp 1-13 (2020)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Health, Toxicology and Mutagenesis, lcsh:RC963-969, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Holoprosencephaly, Pregnancy, Risk Factors, Prenatal exposure, Occupational Exposure, medicine, Humans, Pesticides, 030304 developmental biology, Retrospective Studies, 0303 health sciences, Fetus, Obstetrics, business.industry, lcsh:Public aspects of medicine, Research, Public Health, Environmental and Occupational Health, Case-control study, lcsh:RA1-1270, Odds ratio, Environmental exposure, Environmental Exposure, medicine.disease, Confidence interval, United States, Maternal Exposure, Case-Control Studies, Prenatal Exposure Delayed Effects, lcsh:Industrial medicine. Industrial hygiene, Observational study, Female, business, Forebrain defect, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c0ca4dc4ec046d97c60d8b1caaf434aTest
http://europepmc.org/articles/PMC7278164Test

المؤلفون: Joanna Y.L. Tung, Katta M. Girisha, Paul Kruszka, Nicole Fleischer, Engy A. Ashaat, E.V. Badoe, Dalia Farouk Hussen, Neer Shoba Chitrakar, Angélica Moresco, Neveen A. Ashaat, Olufemi Fasanmade, Siddaramappa J. Patil, Mona O. El Ruby, André Mégarbané, Johnathan Watts, Karen Fieggen, Gary T. K. Mok, Dhanya Yesodharan, Milagros M. Dueñas-Roque, Ezana Lulseged, Cedrik Tekendo-Ngongang, Sarah Savage, Saumya Shekhar Jamuar, Vajira H. W. Dissanayake, Nirmala D. Sirisena, Sultana M.H. Faradz, Antonio Richieri-Costa, Kelly L. Jones, Jasmine Chew Yin Goh, Brenda C. Iriele, María Beatriz de Herreros, Brian H.Y. Chung, Godfrey Mutashambara Rwegerera, María Gabriela Obregon, Yonit A. Addissie, Nydia Rena Benita Sihombing, Teresa Aravena, Shubha R. Phadke, Victoria Huckstadt, C. Sampath Paththinige, Meow-Keong Thong, Neerja Gupta, Agustini Utari, Sheela Nampoothiri, Elizabeth Eberechi Oyenusi, Ekanem N. Ekure, Maximilian Muenke, Rupesh Mishra, Oluwarotimi Bolaji Olopade, Annette Uwineza, Vorasuk Shotelersuk, Ambroise Wonkam

المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Am J Med Genet A

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Population, Cubitus valgus, Turner Syndrome, Physical examination, Short stature, Article, White People, Young Adult, Asian People, Turner syndrome, Genetics, medicine, Humans, Abnormalities, Multiple, SÍNDROME DE NOONAN, Child, education, Genetics (clinical), X chromosome, Chromosomes, Human, X, education.field_of_study, medicine.diagnostic_test, business.industry, Noonan Syndrome, Infant, Newborn, Area under the curve, Infant, Hispanic or Latino, Middle Aged, medicine.disease, Phenotype, Child, Preschool, Face, Population Surveillance, Noonan syndrome, Female, medicine.symptom, business, Facial Recognition

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf516dfd88789c7ce7186e90a9e30000Test

المؤلفون: Gilbert Vezina, Camilo Toro, Marie Luby, Maria T. Acosta, Ashley Buscetta, David C. Page, Maximilian Muenke, Yonit A. Addissie, Lawrence L. Latour, Paul Kruszka, N. Banks

المساهمون: Massachusetts Institute of Technology. Department of Biology

المصدر: Prof. Page via Courtney Crummett
Birth Defects Res

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Embryology, medicine.medical_specialty, Anterior Cerebral Artery, Health, Toxicology and Mutagenesis, Turner Syndrome, 030105 genetics & heredity, Toxicology, Article, Magnetic resonance angiography, 03 medical and health sciences, medicine.artery, Internal medicine, Turner syndrome, medicine, Anterior cerebral artery, Humans, Stroke, medicine.diagnostic_test, business.industry, Brain, medicine.disease, 030104 developmental biology, Migraine, Pediatrics, Perinatology and Child Health, Angiography, Cardiology, Circle of Willis, Female, Headaches, medicine.symptom, business, Magnetic Resonance Angiography, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bab4359658ad4cd7e79a2d8c308a498Test
https://hdl.handle.net/1721.1/126421Test

المؤلفون: Antonio R. Porras, Meow-Keong Thong, Katta M. Girisha, Miguel Chávez Pastor, Angélica Moresco, Premala Muthukumarasamy, María Gabriela Obregon, Ee Shien Tan, Gary T. K. Mok, Maximilian Muenke, Engela Honey, Cedrik Tekendo-Ngongang, Alec P. Boyle, E.V. Badoe, Laila Bouguenouch, Colleen A. Morris, Rupesh Mishra, Angeline Lai, Bertha Elena Gallardo Jugo, Adebowale Adeyemo, Deise Helena de Souza, Saumya Shekhar Jamuar, María Beatriz de Herreros, Karim Ouldim, Beth A. Kozel, Ashleigh D. Gill, Danilo Moretti-Ferreira, Mieke M. van Haelst, Ivan F M Lo, Vajira H. W. Dissanayake, Pranoot Tanpaiboon, Carlos Ferreira, Nirmala D. Sirisena, Leah Dowsett, Marshall L. Summar, Tommy Hu, Hugo Hernán Abarca Barriga, Dalia Farouk Hussen, Monisha S. Kisling, Milana Trubnykova, Ni-Chung Lee, Victoria Huckstadt, Marius George Linguraru, A. Micheil Innes, Eloise J. Prijoles, Vorasuk Shotelersuk, Khadija Belhassan, Brian H.Y. Chung, Jiin Ying Lim, Paul Kruszka, Anju Shukla, Ramses Badilla-Porras, Roger E. Stevenson, Siddaramappa J. Patil, Yonit A. Addissie, C. Sampath Paththinige, Ambroise Wonkam, Ihssane El Bouchikhi, Engy A. Ashaat, Mona O. El Ruby, Stephanie Lotz-Esquivel, André Mégarbané, Jorge La Serna, Cham Breana Wen-Min, HM Luk, Karen Fieggen, Alison Eaton, Neerja Gupta, Kelly L. Jones

المساهمون: Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), Human genetics

المصدر: American Journal of Medical Genetics Part A, 176(5), 1128-1136. Wiley-Liss Inc.
Kruszka, P, Porras, A R, de Souza, D H, Moresco, A, Huckstadt, V, Gill, A D, Boyle, A P, Hu, T, Addissie, Y A, Mok, G T K, Tekendo-Ngongang, C, Fieggen, K, Prijoles, E J, Tanpaiboon, P, Honey, E, Luk, H-M, Lo, I F M, Thong, M-K, Muthukumarasamy, P, Jones, K L, Belhassan, K, Ouldim, K, El Bouchikhi, I, Bouguenouch, L, Shukla, A, Girisha, K M, Sirisena, N D, Dissanayake, V H W, Paththinige, C S, Mishra, R, Kisling, M S, Ferreira, C R, de Herreros, M B, Lee, N-C, Jamuar, S S, Lai, A, Tan, E S, Ying Lim, J, Wen-Min, C B, Gupta, N, Lotz-Esquivel, S, Badilla-Porras, R, Hussen, D F, El Ruby, M O, Ashaat, E A, Patil, S J, Dowsett, L, Eaton, A, Innes, A M, Shotelersuk, V, Badoe, Ë, Wonkam, A, Obregon, M G, Chung, B H Y, Trubnykova, M, La Serna, J, Gallardo Jugo, B E, Chávez Pastor, M, Abarca Barriga, H H, Megarbane, A, Kozel, B A, van Haelst, M M, Stevenson, R E, Summar, M, Adeyemo, A A, Morris, C A, Moretti-Ferreira, D, Linguraru, M G & Muenke, M 2018, ' Williams-Beuren syndrome in diverse populations ', American Journal of Medical Genetics Part A, vol. 176, no. 5, pp. 1128-1136 . https://doi.org/10.1002/ajmg.a.38672Test

مصطلحات موضوعية: Williams Syndrome, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Population, Ethnic group, 030105 genetics & heredity, Sensitivity and Specificity, Article, Genetic Heterogeneity, 03 medical and health sciences, Population Groups, Intellectual disability, Genetics, medicine, Humans, cardiovascular diseases, education, Genetics (clinical), education.field_of_study, Anthropometry, Genetic heterogeneity, business.industry, Facies, Reproducibility of Results, Microdeletion syndrome, medicine.disease, Phenotype, Biological Variation, Population, Cohort, Williams syndrome, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e32d4933dafcf00d120fc6f768507dadTest
https://doi.org/10.1002/ajmg.a.38672Test