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1دورية أكاديمية
المؤلفون: Carlos Torres Salinas, Yesenia Ledesma Porras
مصطلحات موضوعية: Genetic and Molecular Studies of Connective Tissue Disorders, Genetics, FOS Biological sciences, Biochemistry, Genetics and Molecular Biology, Life Sciences, Fibroblast Growth Factor Signaling Pathway, Molecular Biology, Role of Osteopontin in Biomineralization and Inflammation, Rheumatology, Medicine, Health Sciences, Fibroblast Growth Factor, Frontal Bossing, Fibroblast growth factor receptor 3, Short stature, Biology, Fibroblast growth factor receptor, Osteochondrodysplasia, Anatomy, Endocrinology, Receptor, Fibroblast growth factor
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2دورية أكاديمية
المؤلفون: Nour Ammar, Magda El-Tekeya
مصطلحات موضوعية: Genetic and Clinical Studies of Ocular Development, Genetics, FOS Biological sciences, Biochemistry, Genetics and Molecular Biology, Life Sciences, Genetics and Development of Craniofacial Abnormalities, Genetic and Environmental Influences on Cleft Lip and Palate, Positional Plagiocephaly, Frontal Bossing, Medicine, Microphthalmia, Dental anomalies, Craniofacial, Orthodontics, Dentistry, FOS Clinical medicine, Permanent teeth, Craniofacial abnormality, Anatomy, Biochemistry, Psychiatry, Gene, Chemistry
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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: 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: 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: 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: Amjed Abu-Ghname, Anjali C. Raghuram, Renata S. Maricevich, Matthew J. Davis, Claudia M.B. Carvalho, Diana E Guillen, V. Reid Sutton, Christopher J. Conlon
المصدر: American journal of medical genetics. Part AREFERENCES. 185(12)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Genotype, Craniofacial abnormality, Limb Deformities, Congenital, Physical examination, Dwarfism, Genes, Recessive, Craniofacial Abnormalities, Frontal Bossing, Young Adult, Genetics, medicine, Humans, Abnormalities, Multiple, Craniofacial, Hypertelorism, Child, Genetics (clinical), Genes, Dominant, medicine.diagnostic_test, business.industry, Macrocephaly, ROR2, Middle Aged, medicine.disease, Dermatology, Robinow syndrome, Spine, Phenotype, Child, Preschool, Urogenital Abnormalities, Mutation, Female, medicine.symptom, Mouth Abnormalities, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c30ba8946941124bc0c86aa0e27621e4Test
https://pubmed.ncbi.nlm.nih.gov/33237614Test -
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المصدر: Bone
مصطلحات موضوعية: 0301 basic medicine, Histology, Nasal bridge, Physiology, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Biology, Article, 03 medical and health sciences, Exon, Frontal Bossing, 0302 clinical medicine, Intellectual Disability, medicine, Humans, Gene, Genetics, Brachydactyly, Syndrome, Microdeletion syndrome, medicine.disease, Long non-coding RNA, DNM3, MicroRNAs, 030104 developmental biology, Phenotype, Female, Chromosome Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79861f8a1a084d35b2e4ebb9bc0048e3Test
https://pubmed.ncbi.nlm.nih.gov/33141070Test