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المؤلفون: Hülya Kayserili, Dilek Uludağ Alkaya, Sukru Palanduz, Ercan Mihci, Nilay Güneş, Banu Güzel Nur, Elifcan Taşdelen, Güven Toksoy, Sukru Ozturk, Tugba Kalayci, Zehra Oya Uyguner, Zuhal Bayramoglu, Beyhan Tüysüz, Umut Altunoglu, Leyla Elkanova, Ezgi Gizem Berkay, Volkan Karaman, Kivanc Cefle
المصدر: American Journal of Medical Genetics Part A. 185:2488-2495
مصطلحات موضوعية: medicine.medical_specialty, Cleidocranial Dysplasia, business.industry, Scoliosis, medicine.disease, Gastroenterology, Short stature, Frontal Bossing, medicine.anatomical_structure, Skeletal disorder, Clavicle, Internal medicine, Genetics, medicine, Wormian bones, Allelic heterogeneity, medicine.symptom, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3cdc5099a357ca74e90954c1da84212bTest
https://doi.org/10.1002/ajmg.a.62261Test -
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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: Naama Yosha-Orpaz, Tally Lerman-Sagie, Keren Yosovich, Miri Yanoov-Sharav, Dvora Kidron, Hila Gur, R. Birnbaum, Gustavo Malinger, Dorit Lev
المصدر: American Journal of Medical Genetics Part A. 179:78-84
مصطلحات موضوعية: Male, 0301 basic medicine, Protein-Arginine N-Methyltransferases, Pathology, medicine.medical_specialty, Developmental Disabilities, Intrauterine growth restriction, Astrocytoma, Arginine, Compound heterozygosity, Methylation, Short stature, 03 medical and health sciences, Frontal Bossing, 0302 clinical medicine, Pregnancy, Intellectual Disability, Genetics, medicine, Humans, Global developmental delay, Genetics (clinical), Fetal Growth Retardation, business.industry, Brachydactyly, Infant, Newborn, Infant, medicine.disease, Hypotonia, 030104 developmental biology, Mutation, Muscle Hypotonia, Orbital Neoplasms, Female, Sensorineural hearing loss, medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ed2f6ea600ec14b1c9636a06929e215Test
https://doi.org/10.1002/ajmg.a.6Test -
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المؤلفون: Shinji Takeyari, Kei Miyata, Tadashi Kaname, Taichi Kitaoka, Yasuhisa Ohata, Hirofumi Nakayama, Keiichi Ozono, Keiko Yamamoto, Takuo Kubota, Kumiko Yanagi, Kenichi Yamamoto
المصدر: American Journal of Medical Genetics Part A. 176:2882-2886
مصطلحات موضوعية: Male, 0301 basic medicine, Heterozygote, medicine.medical_specialty, Adolescent, Craniofacial abnormality, DNA Mutational Analysis, Vesicular Transport Proteins, Compound heterozygosity, Short stature, Craniosynostoses, 03 medical and health sciences, Frontal Bossing, 0302 clinical medicine, Japan, Exome Sequencing, Genetics, medicine, Humans, Eye Abnormalities, Alleles, Genetic Association Studies, Genetics (clinical), Exome sequencing, business.industry, Brain, Osteogenesis Imperfecta, medicine.disease, Dermatology, Phenotype, 030104 developmental biology, Dysplasia, Osteogenesis imperfecta, Mutation, medicine.symptom, business, Cole Carpenter syndrome, 030217 neurology & neurosurgery, Hydrocephalus
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20eef94ebb2bdbdf8ed9015044a6b210Test
https://doi.org/10.1002/ajmg.a.40643Test -
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المؤلفون: Sarah Inskip, Christiana L. Scheib, Xiangyu Ge, Toomas Kivisild, Anthony Wilder Wohns, John Robb
المساهمون: Inskip, Sarah [0000-0001-7424-2094], Apollo - University of Cambridge Repository
المصدر: American Journal of Physical Anthropology
مصطلحات موضوعية: 0106 biological sciences, medieval, Adult, Male, genetic sex, Adolescent, Biology, 010603 evolutionary biology, 01 natural sciences, Anthropology, Physical, Frontal Bossing, Young Adult, medicine, Humans, 0601 history and archaeology, Genetic Testing, Pelvic Bones, Research Articles, History, 15th Century, 060101 anthropology, Skull, 06 humanities and the arts, Sulcus, Middle Aged, Sex Determination by Skeleton, History, Medieval, Sexual dimorphism, Sex bias, medicine.anatomical_structure, Multiple factors, Archaeology, Sex estimation, History, 16th Century, Anthropology, preauricular sulcus, Trait, Female, Anatomy, Demography, Research Article, sex estimate accuracy
وصف الملف: application/pdf; Print-Electronic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44a292fdce535603e462ec0acf607c35Test
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المؤلفون: Davide De Brasi, Maria Antonietta Pisanti, Roberta Petillo, Cristina Tortora, Paolo Fontana, Mariateresa Falco, Martina Miniero
المصدر: American Journal of Medical Genetics Part A. 170:2445-2448
مصطلحات موضوعية: Male, 0301 basic medicine, Developmental Disabilities, 030105 genetics & heredity, Short stature, 03 medical and health sciences, Frontal Bossing, Genetics, medicine, Humans, Abnormalities, Multiple, Clinical phenotype, Genetic Association Studies, Genetics (clinical), Ultrasonography, business.industry, Long philtrum, Brain, Infant, Syndrome, Anatomy, Magnetic Resonance Imaging, Hypotonia, Phenotype, 030104 developmental biology, Echocardiography, Square face, Chromosomes, Human, Pair 5, Chromosome Deletion, medicine.symptom, Prominent columella, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0734bf7183834b3347822ed8e0d5107aTest
https://doi.org/10.1002/ajmg.a.37824Test -
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المؤلفون: Takuya Kaneshi, Takeshi Kamiya, Gen Nishimura, Yasutsugu Chinen, Tadashi Kaname, Kenichiro Hata
المصدر: American Journal of Medical Genetics Part A. 167:2834-2838
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Coxa valga, Brachydactyly, Elbow, Anatomy, medicine.disease, Short stature, Surgery, body regions, Frontal Bossing, medicine.anatomical_structure, Hip subluxation, Orthopedic surgery, Genetics, medicine, Deformity, medicine.symptom, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1bdca2b9f91889c3fac9530ed5425c82Test
https://doi.org/10.1002/ajmg.a.37278Test -
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المؤلفون: Miki Kamimura, Shigeo Kure, Kazuhiko Hoshi, Junko Kanno, Masato Kimura, Jun Murotsuki, Akiko Saito-Hakoda, Ikuma Fujiwara, Akimune Kaga
المصدر: Congenital Anomalies. 55:116-120
مصطلحات موضوعية: Embryology, Fetus, medicine.medical_specialty, Down syndrome, business.industry, Prenatal diagnosis, General Medicine, medicine.disease, Helical ct, Computed tomographic, Frontal Bossing, Pediatrics, Perinatology and Child Health, medicine, Echogenic Bowel, Radiology, Achondroplasia, business, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::89eb1824a580aa5de306b9137bede517Test
https://doi.org/10.1111/cga.12097Test -
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المؤلفون: Robert Pogue, Romina Soledad Heredia, Maria Terezinha O. Cardoso, Felipe Albuquerque Marques, Juliana F. Mazzeu, Claudiner Pereira de Oliveira
المصدر: American Journal of Medical Genetics Part A. 167:412-416
مصطلحات موضوعية: Male, Monosomy, Microcephaly, Trisomy, Chromosomal translocation, Biology, Craniosynostosis, Craniosynostoses, Frontal Bossing, Gene duplication, Genetics, medicine, Humans, Syndactyly, Child, Genetics (clinical), Comparative Genomic Hybridization, Facies, Karyotype, Syndrome, medicine.disease, Chromosome Banding, Phenotype, Chromosomes, Human, Pair 17
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f572780b58533e194fd6b1c66e5d48fTest
https://doi.org/10.1002/ajmg.a.36844Test -
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المؤلفون: Lucia S. M. Ribbert, Caterina M. Bilardo, L. R. Pistorius, Elisabeth de Jong-Pleij, Ellen Tromp
المصدر: Prenatal Diagnosis. 32:797-802
مصطلحات موضوعية: business.industry, Mandible, Obstetrics and Gynecology, Prenatal diagnosis, Anatomy, Frontal Bossing, Frontal bone, medicine.anatomical_structure, Retrognathia, Forehead, Medicine, Nasion, Line (text file), business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a8cc7511ae25f1b6e7e6581a34511f66Test
https://doi.org/10.1002/pd.3904Test