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المؤلفون: Joao Bosco Oliveira, Amanda Virginia Cavalcante, Catherine Castro, Timothy B. Niewold, Simone Appenzeller, Luciana B Paim-Marques, Theresa Wampler Muskardin
المصدر: Rheumatology International. 41:219-225
مصطلحات موضوعية: 030203 arthritis & rheumatology, medicine.medical_specialty, Abdominal pain, education.field_of_study, business.industry, Immunology, Population, medicine.disease, Dermatology, Rash, 03 medical and health sciences, Frontal Bossing, Canakinumab, 0302 clinical medicine, Rheumatology, medicine, Immunology and Allergy, Missense mutation, Polyarthritis, 030212 general & internal medicine, medicine.symptom, business, education, Livedo reticularis, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f7a1f6326dac6d43ba6e9e08cd46b147Test
https://doi.org/10.1007/s00296-020-04683-5Test -
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المصدر: Pediatrics In Review. 42:203-205
مصطلحات موضوعية: Male, medicine.medical_specialty, Fever, Anemia, medicine.medical_treatment, Physical examination, 03 medical and health sciences, Frontal Bossing, 0302 clinical medicine, 030225 pediatrics, Incision and drainage, medicine, Edema, Humans, Uganda, Forehead, 030212 general & internal medicine, Leukocytosis, Angioedema, Child, medicine.diagnostic_test, business.industry, Osteomyelitis, medicine.disease, Surgery, Bloody, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3c40de03d5d880d19889b69d109045bTest
https://doi.org/10.1542/pir.2019-0282Test -
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المؤلفون: Tae Youp Kim, Changwon Keum, Kyung Mi Jang, Seung Hwan Oh, Woo Yeong Chung
المصدر: Annals of Pediatric Endocrinology & Metabolism
Annals of Pediatric Endocrinology & Metabolism, Vol 25, Iss 4, Pp 272-276 (2020)مصطلحات موضوعية: Proband, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Short neck, Case Report, Short stature, 03 medical and health sciences, symbols.namesake, Frontal Bossing, 0302 clinical medicine, 030225 pediatrics, Internal medicine, Medicine, Aggrecan, Sanger sequencing, business.industry, lcsh:RJ1-570, ACAN, lcsh:Pediatrics, Bone age, medicine.disease, Hypoplasia, Dysmorphism, Endocrinology, Pediatrics, Perinatology and Child Health, symbols, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9f308d38824336dc4f47637fe1f320dTest
http://europepmc.org/articles/PMC7788345Test -
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المصدر: Indian Journal of Cardiovascular Disease in Women, Vol 5, Iss 02, Pp 117-122 (2020)
مصطلحات موضوعية: 0301 basic medicine, Periorbital hyperpigmentation, medicine.medical_specialty, Progeria, Mitral regurgitation, business.industry, Immunology, lcsh:Surgery, progeria, lcsh:RD1-811, 030204 cardiovascular system & hematology, medicine.disease, Hyperpigmentation, Dermatology, Progeroid syndromes, 03 medical and health sciences, Frontal Bossing, 030104 developmental biology, 0302 clinical medicine, Retrognathia, medicine, Mitral valve prolapse, mitral regurgitation, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0684a71f745d5c07029fac7aa2f991d0Test
https://doi.org/10.1055/s-0040-1713689Test -
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المؤلفون: Gwendolyn Huang, Mark H. Moore, Peter J. Anderson, Chutima Jirapinyo, Sam Gue, Vybhav Deraje
المصدر: Journal of Craniofacial Surgery. 31:908-911
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Skeletal survey, medicine.medical_treatment, Ear infection, Orthognathic surgery, Anterior fontanelle, Adenoidectomy, Young Adult, 03 medical and health sciences, Frontal Bossing, 0302 clinical medicine, Humans, Medicine, Craniofacial, Child, 030223 otorhinolaryngology, Tonsillectomy, Sleep Apnea, Obstructive, Cleidocranial Dysplasia, business.industry, Skull, Infant, Newborn, Infant, 030206 dentistry, General Medicine, Middle Aged, medicine.anatomical_structure, Otorhinolaryngology, Child, Preschool, Mutation, Wormian bones, Female, Surgery, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::464b7e0598503fc0e412dcadcab69e67Test
https://doi.org/10.1097/scs.0000000000006306Test -
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المؤلفون: Upasna Sinha, Arun Prasad, Ramji Singh, Sangeeta Gupta, Gaurav Gupta
المصدر: Saudi Journal of Medicine and Medical Sciences, Vol 8, Iss 2, Pp 146-150 (2020)
Saudi Journal of Medicine & Medical Sciencesمصطلحات موضوعية: Pediatrics, medicine.medical_specialty, lcsh:Medicine, Case Report, craniofacial, 03 medical and health sciences, Frontal Bossing, 0302 clinical medicine, medicine, cranial sutures, 030212 general & internal medicine, Craniofacial, Hypertelorism, Papilledema, crouzon syndrome, business.industry, lcsh:R, Dysostosis, Crouzon syndrome, General Medicine, Airway obstruction, medicine.disease, infant, Hydrocephalus, 030220 oncology & carcinogenesis, dysostosis, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1caa1fb2e3efa79a597ae8ac5bdf76a6Test
http://www.sjmms.net/article.asp?issn=1658-631X;year=2020;volume=8;issue=2;spage=146;epage=150;aulast=GuptaTest -
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المؤلفون: Jan M. Wit, Ahmad Kautsar, Aman B Pulungan
المصدر: Journal of Clinical Research in Pediatric Endocrinology. 11:426-431
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Proportionate short stature, Mutation, business.industry, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Gene mutation, medicine.disease, medicine.disease_cause, Short stature, Hypoplasia, 03 medical and health sciences, Exon, Frontal Bossing, 030104 developmental biology, 0302 clinical medicine, Endocrinology, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, IGHD, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::637fbebc387cac56173d386f5356433cTest
https://doi.org/10.4274/jcrpe.galenos.2019.2018.0305Test -
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المؤلفون: Sybill D. Naidoo, Dennis C. Nguyen, Albert S. Woo, Kamlesh B. Patel, Matthew D. Smyth, Debra W. Yen, Gary B. Skolnick
المصدر: Journal of Craniofacial Surgery. 30:2350-2354
مصطلحات موضوعية: medicine.medical_treatment, Facial Bones, Craniosynostoses, 03 medical and health sciences, Frontal Bossing, 0302 clinical medicine, medicine, Humans, In patient, Longitudinal Studies, Postoperative Period, 030223 otorhinolaryngology, Craniotomy, Retrospective Studies, Cephalic index, business.industry, Scaphocephaly, Infant, 030206 dentistry, General Medicine, Plastic Surgery Procedures, medicine.disease, Treatment Outcome, Frontal bone, medicine.anatomical_structure, Otorhinolaryngology, Sagittal synostosis, Frontal Bone, Forehead, Surgery, Tomography, X-Ray Computed, Nuclear medicine, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9347a58080b38d0b7768c1422b4524ebTest
https://doi.org/10.1097/scs.0000000000005786Test -
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المؤلفون: John M. Graham, Anna Ardissone, Dieter Kotzot, Paul R. Mark, Anna Zachariou, Guillermo Lay-Son, Allyn McConkie-Rosell, John Pappas, Karen Low, Fiona Stewart, Chey Loveday, Brian G. Skotko, Melissa Lees, Helen Stewart, Ho Ming Luk, Cheryl Cytrynbaum, Rachel Horton, Siddharth Banka, Gerard Marion, Deborah J. Shears, Marie T. McDonald, Ricardo A. Verdugo, Christine Coubes, Yuri A. Zarate, Christophe Phillipe, Katrina Tatton-Brown, Clare Allen, Deepika D.Cunha Burkardt, Rosanna Weksberg, I. Karen Temple, Alexia Bourgois, David J. Amor, Frédéric Tran Mau-Them, Laurence Faivre
المساهمون: Case Western Reserve University [Cleveland], The institute of cancer research [London], University College London Hospitals (UCLH), Murdoch Children's Research Institute (MCRI), University of Melbourne, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', University of Manchester [Manchester], Manchester University NHS Foundation Trust (MFT), Service de Génétique [CHU Caen], CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Université de Caen Normandie (UNICAEN), Normandie Université (NU), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), The Hospital for sick children [Toronto] (SickKids), Hôpital d'Enfants [CHU Dijon], Hôpital du Bocage, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon)-Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Biologie, génétique et thérapies ostéoarticulaires et respiratoires (BIOTARGEN), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU), University Hospital Southampton NHS Foundation Trust, Paracelsus Medizinische Privatuniversität = Paracelsus Medical University (PMU), Pontificia Universidad Católica de Chile (UC), Great Ormond Street Hospital for Children [London] (GOSH), University Hospitals Bristol, Department of Health Clinical Genetic Service Centre, Spectrum Health [Grand Rapids], Department of Molecular Genetics and Microbiology [Durham] (MGM), Duke University [Durham], New York University School of Medicine (NYU), New York University School of Medicine, NYU System (NYU)-NYU System (NYU), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Department of Clinical Genetics [Churchill Hospital], Churchill Hospital Oxford Centre for Haematology, Harvard Medical School [Boston] (HMS), Belfast City Hospital, Oxford University Hospitals NHS Trust, University of Oxford [Oxford], University of Southampton, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Universitad de Chile, Arkansas Children's Hospital, Cedars-Sinai Medical Center, St George’s University Hospitals, Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM)
المصدر: American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2019, 179 (10), pp.2049-2055. ⟨10.1002/ajmg.a.61321⟩
Burkardt, D DC, Zachariou, A, Loveday, C, Allen, C L, Amor, D J, Ardissone, A, Banka, S, Bourgois, A, Coubes, C, Cytrynbaum, C, Faivre, L, Marion, G, Horton, R, Kotzot, D, Lay-Son, G, Lees, M, Low, K, Luk, H-M, Mark, P, McConkie-Rosell, A, McDonald, M, Pappas, J, Phillipe, C, Shears, D, Skotko, B, Stewart, F, Temple, I K, Mau-Them, F T, Verdugo, R A, Weksberg, R, Zarate, Y A, Graham, J M & Tatton-Brown, K 2019, ' HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt : A study to clarify the HIST1H1E syndrome phenotype in 30 individuals ', American Journal of Medical Genetics. Part A, vol. 179, no. 10, pp. 2049-2055 . https://doi.org/10.1002/ajmg.a.61321Testمصطلحات موضوعية: Heterozygote, Bioinformatics, Corpus callosum, Rahman syndrome, Histones, 03 medical and health sciences, Frontal Bossing, 0302 clinical medicine, HIST1H1E, Gene cluster, Intellectual disability, Genetics, Humans, Learning, Medicine, Epigenetics, Genetics (clinical), 030304 developmental biology, Behavior, [SDV.GEN]Life Sciences [q-bio]/Genetics, 0303 health sciences, epigenetic regulator gene, biology, business.industry, Facies, Heterozygote advantage, Syndrome, medicine.disease, Phenotype, Histone, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, intellectual disability, Mutation, biology.protein, Growth and Development, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf; text; image; spreadsheet; application/vnd.openxmlformats-officedocument.wordprocessingml.document
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44aa7fc4767f166673682003bbd5ca23Test
https://doi.org/10.1002/ajmg.a.61321Test -
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المؤلفون: Steven J. Staffa, John G. Meara, Christopher D. Hughes, Mark R. Proctor, Olivia C. Langa, Ingrid M. Ganske, Laura C. Nuzzi
المصدر: Plastic and Reconstructive Surgery, Global Open, Vol 9, Iss 5, p e3493 (2021)
Plastic and Reconstructive Surgery Global Openمصطلحات موضوعية: Fibrous joint, Orthodontics, Craniofacial/Pediatric, RD1-811, business.industry, Scaphocephaly, 030230 surgery, medicine.disease, Vertex (anatomy), Craniosynostosis, 03 medical and health sciences, Skull, Frontal Bossing, 0302 clinical medicine, medicine.anatomical_structure, 030220 oncology & carcinogenesis, medicine, Sagittal craniosynostosis, Original Article, Surgery, Craniofacial, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bcdddd7c1a2be27ca708f384e887e88Test
http://journals.lww.com/prsgo/fulltext/10.1097/GOX.0000000000003493Test
