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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: Hande Turan, Oya Ercan, Busra Kasap, Gozde Yesil, Zeynep Alp Ünkar, Alper Gezdirici, Dilek Uludağ Alkaya, Beyhan Tüysüz, Mehmet Vural
المصدر: European journal of medical genetics. 64(12)
مصطلحات موضوعية: Male, Adolescent, Hyperlordosis, Dwarfism, Cohort Studies, Frontal Bossing, Young Adult, Genetics, Medicine, Humans, Child, Genetics (clinical), Nose, Rib cage, business.industry, Genetic Variation, Infant, Slender long bone, General Medicine, Anatomy, Cullin Proteins, Body Height, Spine, Tubercle of the upper lip, Natural history, Cytoskeletal Proteins, medicine.anatomical_structure, Child, Preschool, Face, Cohort, Muscle Hypotonia, Female, business, Carrier Proteins
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d50c30bb9a6b2fc60489b8a5b68cb7dfTest
https://pubmed.ncbi.nlm.nih.gov/34597859Test -
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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 -
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المؤلفون: O.W. Daniyan, U.C. Iloduba, C. Ogbonna-Nwosu, O.B. Ezeanosike
المصدر: Nigerian Journal of Paediatrics. 47:277-279
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Thanatophoric dysplasia, business.industry, Macrocephaly, Tertiary institution, Fibroblast growth factor receptor 3, medicine.disease, Frontal Bossing, Dysplasia, medicine, South east, Excessive skin folds, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::bf93ae5f826a47787f297d9fdaf163bbTest
https://doi.org/10.4314/njp.v47i3.14Test -
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المصدر: Child Neurology Open, Vol 8 (2021)
مصطلحات موضوعية: 0301 basic medicine, business.industry, Corpus Callosum Agenesis, Mowat–Wilson syndrome, General Medicine, Anatomy, 030105 genetics & heredity, Gene mutation, Corpus callosum, medicine.disease, Pediatrics, RJ1-570, 03 medical and health sciences, Frontal Bossing, 0302 clinical medicine, Agenesis, Medicine, Neurology. Diseases of the nervous system, Hypertelorism, medicine.symptom, business, RC346-429, 030217 neurology & neurosurgery, Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83c9e62c12bc2f31caef9fa31faf9510Test
https://doaj.org/article/113b66a1fecb4a8da381e3d232bdcedcTest -
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المؤلفون: Lin Yang, Feihong Luo, Qiuyue Li, Chengjun Sun, Wei Lu
المصدر: Transl Pediatr
مصطلحات موضوعية: Sanger sequencing, business.industry, Brachydactyly, Gene mutation, Bioinformatics, medicine.disease, Short stature, Frontal Bossing, symbols.namesake, Macrodontia (tooth), Pediatrics, Perinatology and Child Health, Genotype, medicine, symbols, Original Article, medicine.symptom, business, Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2cca666a9cd456556bd82ba98bd8874Test
https://europepmc.org/articles/PMC8107870Test/ -
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المؤلفون: Kerri Bosfield, Jullianne Diaz, Eyby Leon
المصدر: Mol Syndromol
مصطلحات موضوعية: business.industry, Microretrognathia, Macrocephaly, Karyotype, Anatomy, medicine.disease, Frontal Bossing, Novel Insights from Clinical Practice, Gene duplication, Genetics, Medicine, Palatal anomalies, Global developmental delay, medicine.symptom, business, Kyphoscoliosis, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18038b0d479c3d65765cf15a5b69e4f2Test
https://europepmc.org/articles/PMC8215960Test/ -
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المؤلفون: Rosa Alvarado Merino, Mario Zárate Girao, Jaime Ingar Pinedo, Erasmo Huertas Tacchino, Walter Ventura Laveriano, Jorge La Serna-Infantes, Walter Castillo Urquiaga
المصدر: Revista Peruana de Ginecología y Obstetricia. 65:361-366
مصطلحات موضوعية: Gynecology, medicine.medical_specialty, Fetus, Respiratory distress, business.industry, Prenatal diagnosis, General Medicine, medicine.disease, Craniosynostosis, Frontal Bossing, medicine, Pfeiffer syndrome, Syndactyly, business, Ventriculomegaly
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6321f8d6143fda6efff77f5fc320adf8Test
https://doi.org/10.31403/rpgo.v66i2196Test -
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المؤلفون: Teresa Frey, Aaron Berg, Laurie Hogden
المصدر: NeoReviews. 20:e41-e44
مصطلحات موضوعية: Male, medicine.medical_treatment, medicine.disease_cause, Hemimegalencephaly, 03 medical and health sciences, Frontal Bossing, 0302 clinical medicine, Seizures, 030225 pediatrics, medicine, Humans, 030212 general & internal medicine, Saline, Pregnancy, business.industry, Infant, Newborn, Electroencephalography, Hyperostosis, medicine.disease, Magnetic Resonance Imaging, Gestational diabetes, Anesthesia, Frontal Bone, Pediatrics, Perinatology and Child Health, Gestation, Nuchal cord, business, Meningitis, Nasal cannula
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e40a85c2f9e0cffb4ef76f720d8cd49Test
https://doi.org/10.1542/neo.20-1-e41Test -
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المؤلفون: Christopher R. Forrest, John Phillips, Sultan Z Al-Shaqsi, Ahsan Rai
المصدر: Journal of Craniofacial Surgery. 30:366-369
مصطلحات موضوعية: Male, Cephalometry, Craniosynostoses, 03 medical and health sciences, Frontal Bossing, 0302 clinical medicine, medicine, Humans, 030223 otorhinolaryngology, Retrospective Studies, Orthodontics, Cephalic index, business.industry, Skull, Infant, Newborn, Scaphocephaly, Infant, 030206 dentistry, General Medicine, Reference Standards, Glabella, medicine.disease, medicine.anatomical_structure, Otorhinolaryngology, Sample size determination, Length change, Sagittal craniosynostosis, Female, Surgery, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c4244f4844817fb17d60a079858cbfbTest
https://doi.org/10.1097/scs.0000000000005034Test