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1Academic Journal
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
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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
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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 Reportsمصطلحات 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
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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
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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
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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:UNESPمصطلحات 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
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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
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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.38672مصطلحات 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
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المؤلفون: Eric Levey, Donald W. Hadley, Jin S. Hahn, Beth Solomon, Karin Weiss, Wadih M. Zein, Debbie Baldwin, Casey K. Hadsall, Audrey Thurm, Erich Roessler, Paul Kruszka, Nancy J. Clegg, Edythe Wiggs, Robert B. Hufnagel, Yonit A. Addissie, Maria J. Guillen Sacoto, Mauricio R. Delgado, Elaine E. Stashinko, Maximilian Muenke, Ping Hu, Bethany Stokes
المصدر: Genetics in Medicine
مصطلحات موضوعية: 0301 basic medicine, Proband, musculoskeletal diseases, Adult, Male, Candidate gene, Pediatrics, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, 030105 genetics & heredity, Neuropsychological Tests, ZIC2, 03 medical and health sciences, Young Adult, Holoprosencephaly, Medicine, Humans, Genetic Predisposition to Disease, Original Research Article, whole-exome sequencing, Genetic Testing, Registries, Young adult, Genetics (clinical), Exome sequencing, Genetic Association Studies, Genetic testing, medicine.diagnostic_test, business.industry, DISP1, Facies, medicine.disease, Magnetic Resonance Imaging, 030104 developmental biology, holoprosencephaly, Phenotype, natural history, Cohort, Female, business
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المؤلفون: Gary T. K. Mok, Nirmala D. Sirisena, Julie D. Kaplan, Christopher C.Y. Mak, Paul Kruszka, Nnenna Kalu, T. Blaine Crowley, Adebowale Adeyemo, Siddaramappa J. Patil, Vera Lúcia Gil-da-Silva-Lopes, C. Sampath Paththinige, Antonio Richieri-Costa, Daniel E. McGinn, Kelly L. Jones, Marius George Linguraru, Vorasuk Shotelersuk, Donna M. McDonald-McGinn, Jordann-Mishael Duncan, Ogochukwu J. Sokunbi, L. B. Lahiru Prabodha, Maximilian Muenke, Premala Muthukumarasamy, Vajira H. W. Dissanayake, Omar A. Abdul-Rahman, Brian H.Y. Chung, Annette Uwineza, Marshall L. Summar, Yonit A. Addissie, Elijah Biggs, Elaine H. Zackai, María Gabriela Obregon, Antonio R. Porras, Ekanem N. Ekure, Meow-Keong Thong, Angélica Moresco, Rupesh Mishra, Carlos Ferreira, Leon Mutesa, Matthew Share
المصدر: American Journal of Medical Genetics Part A. 173:879-888
مصطلحات موضوعية: 0301 basic medicine, Genetics, education.field_of_study, Heart disease, African descent, Population, Ethnic group, Microdeletion syndrome, Biology, medicine.disease, 03 medical and health sciences, 030104 developmental biology, DiGeorge syndrome, Variable phenotype, medicine, Deletion syndrome, education, Genetics (clinical), Demography
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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 Aمصطلحات 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
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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 Resمصطلحات 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
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المؤلفون: Ogochukwu J. Sokunbi, Paul Kruszka, Adebowale Adeyemo, Maximilian Muenke, Ekanem N. Ekure, Yonit A. Addissie
المصدر: American Journal of Medical Genetics Part A.
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Black african, Gene Expression, Nigeria, Disease, Angiofibroma, Tuberous Sclerosis Complex 1 Protein, Tuberous sclerosis, Tuberous Sclerosis, Tuberous Sclerosis Complex 2 Protein, Exome Sequencing, Genetics, Humans, Medicine, In patient, neoplasms, Genetics (clinical), Skin, Skin manifestations, business.industry, Myocardium, Rhabdomyoma, medicine.disease, Dermatology, nervous system diseases, medicine.anatomical_structure, Child, Preschool, Mutation, TSC1, TSC2, business, Limited resources
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المؤلفون: Marius George Linguraru, Vorasuk Shotelersuk, Brian H.Y. Chung, J. Joseph Brough, Angélica Moresco, Maximilian Muenke, Katherine L. Pardo, Christy A. N. Okoromah, Desmond Ikebudu, Omar A. Abdul-Rahman, Ogochukwu J. Sokunbi, Samantha La Qua, Gary T. K. Mok, María Gabriela Obregon, Yonit A. Addissie, Antonio R. Porras, Vajira H. W. Dissanayake, Breana Cham Wen Min, Meow-Keong Thong, Felicia Ikolo, Marshall L. Summar, Andrew K. Sobering, Ni-Chung Lee, Adebowale Adeyemo, Katta M. Girisha, Saumya Shekhar Jamuar, Leon Mutesa, Nnenna Kalu, C. Sampath Paththinige, Suma Ganesh, Antonio Richieri-Costa, Kelly L. Jones, Ivy Ng, Shailja Tibrewal, Nirmala D. Sirisena, Batriti Wallang, Premala Muthukumarasamy, Siddaramappa J. Patil, Annette Uwineza, Daniel Akinsanya Joseph, L. B. Lahiru Prabodha, Ekanem N. Ekure, Christopher Emeka Ugwu, Paul Kruszka
المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USPمصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Down syndrome, Clinodactyly, Adolescent, SÍNDROME DE DOWN, Ethnic group, 030105 genetics & heredity, Sensitivity and Specificity, Young Adult, 03 medical and health sciences, Population Groups, Internal medicine, Genetics, medicine, Humans, Canthus, Child, Cognitive impairment, Genetic Association Studies, Genetics (clinical), Nose, business.industry, Infant, Newborn, Facies, Infant, medicine.disease, Phenotype, medicine.anatomical_structure, Case-Control Studies, Child, Preschool, Population Surveillance, Cohort, Female, Down Syndrome, medicine.symptom, business, Brachycephaly, Biomarkers
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المؤلفون: Paul Kruszka, Antonio R. Porras, Deise Helena de Souza, Angélica Moresco, Victoria Huckstadt, Ashleigh D. Gill, Alec P. Boyle, Tommy Hu, Yonit A. Addissie, Gary T. K. Mok, Cedrik Tekendo‐Ngongang, Karen Fieggen, Eloise J. Prijoles, Pranoot Tanpaiboon, Engela Honey, Ho‐Ming Luk, Ivan F. M. Lo, Meow‐Keong Thong, Premala Muthukumarasamy, Kelly L. Jones, Khadija Belhassan, Karim Ouldim, Ihssane El Bouchikhi, Laila Bouguenouch, Anju Shukla, Katta M. Girisha, Nirmala D. Sirisena, Vajira H. W. Dissanayake, C. Sampath Paththinige, Rupesh Mishra, Monisha S. Kisling, Carlos R. Ferreira, María Beatriz de Herreros, Ni‐Chung Lee, Saumya S. Jamuar, Angeline Lai, Ee Shien Tan, Jiin Ying Lim, Cham Breana Wen‐Min, Neerja Gupta, Stephanie Lotz‐Esquivel, Ramsés Badilla‐Porras, Dalia Farouk Hussen, Mona O. El Ruby, Engy A. Ashaat, Siddaramappa J. Patil, Leah Dowsett, Alison Eaton, A. Micheil Innes, Vorasuk Shotelersuk, Ëben Badoe, Ambroise Wonkam, María Gabriela Obregon, Brian H. Y. Chung, Milana Trubnykova, Jorge La Serna, Bertha Elena Gallardo Jugo, Miguel Chávez Pastor, Hugo Hernán Abarca Barriga, Andre Megarbane, Beth A. Kozel, Mieke M. van Haelst, Roger E. Stevenson, Marshall Summar, A. Adebowale Adeyemo, Colleen A. Morris, Danilo Moretti‐Ferreira, Marius George Linguraru, Maximilian Muenke
المصدر: American Journal of Medical Genetics Part A. 176
مصطلحات موضوعية: Genetics, Genetics (clinical)
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المؤلفون: Colin M. P. Yarnell, Donald W. Hadley, Maximilian Muenke, H. Collmann, Paul Kruszka, Edythe Wiggs, Tilmann Schweitzer, Yvonne Paelecke, Maria J. Guillen Sacoto, Rachel A. Hart, Petra Platte, Nneamaka B. Agochukwu, Yonit A. Addissie
المصدر: The Journal of Pediatrics. 167:428-434
مصطلحات موضوعية: Adult, Male, Adolescent, Population, Article, Muenke syndrome, Cohort Studies, Craniosynostoses, Executive Function, Young Adult, Risk Factors, Adaptation, Psychological, medicine, Humans, Attention deficit hyperactivity disorder, Sibling, Child, education, Adaptive behavior, education.field_of_study, business.industry, Siblings, Infant, Middle Aged, medicine.disease, Behavior Rating Inventory of Executive Function, Cross-Sectional Studies, Case-Control Studies, Child, Preschool, Pediatrics, Perinatology and Child Health, Cohort, Female, business, Cohort study, Clinical psychology
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المؤلفون: Yonit A. Addissie, Colin M.P. Yarnell, Paul Kruszka, Maximilian Muenke
المصدر: Middle East Journal of Medical Genetics. 4:1-6
مصطلحات موضوعية: Pharmacology (medical)
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المؤلفون: Paul, Kruszka, Pranoot, Tanpaiboon, Katherine, Neas, Kathleen, Crosby, Seth I, Berger, Ariel F, Martinez, Yonit A, Addissie, Yupada, Pongprot, Rekwan, Sittiwangkul, Suchaya, Silvilairat, Krit, Makonkawkeyoon, Lan, Yu, Julia, Wynn, James T, Bennett, Heather C, Mefford, William T, Reynolds, Xiaoqin, Liu, Mathilda T M, Mommersteeg, Wendy K, Chung, Cecilia W, Lo, Maximilian, Muenke
المصدر: Journal of medical genetics. 54(12)
مصطلحات موضوعية: Male, DNA Copy Number Variations, Heart Septal Defects, Infant, Nerve Tissue Proteins, Polymorphism, Single Nucleotide, Disease Models, Animal, Mice, Phenotype, Loss of Function Mutation, Tetralogy of Fallot, Animals, Humans, Female, Receptors, Immunologic, Child, Genetic Association Studies
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المؤلفون: Maria J. Guillen Sacoto, Yvonne Paelecke, Petra Platte, Simeon A. Boyadjiev, Tony Roscioli, Yonit A. Addissie, John B. Mulliken, Samantha E. Hall, Christos Aravidis, Paul Kruszka, Nicole Snow, Donald W. Hadley, Maximilian Muenke, Colin M. P. Yarnell, Tilmann Schweitzer, H. Collmann
المصدر: American journal of medical genetics. Part A. (4)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Hearing loss, Muenke syndrome, Craniosynostosis, 03 medical and health sciences, Craniosynostoses, Young Adult, 0302 clinical medicine, Intellectual disability, Genetics, medicine, Humans, Receptor, Fibroblast Growth Factor, Type 3, Four-Dimensional Computed Tomography, Child, Genetics (clinical), Craniofacial surgery, Genetic Association Studies, Aged, business.industry, Facies, Infant, Synostosis, Middle Aged, medicine.disease, Penetrance, Pedigree, 030104 developmental biology, Phenotype, Child, Preschool, Mutation, Female, medicine.symptom, business, 030217 neurology & neurosurgery, Natural history study
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المؤلفون: Karin Weiss, Paul Kruszka, Maria J. Guillen Sacoto, Yonit A. Addissie, Donald W. Hadley, Casey K. Hadssal, Bethany Stokes, Ping Hu, Ariel F. Martinez, Erich Roessler, Beth Solomon, Edythe Wiggs, Audrey Thurm, Robert B. Hufnagel, Wadih M. Zein, Jin S. Hahn, Elaine Stashinko, Eric Levey, Debbie Baldwin, Nancy J. Clegg, Mauricio R. Delgado, Maximilian Muenke
المصدر: Genetics in Medicine. 20:164
مصطلحات موضوعية: Genetics (clinical)
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