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المؤلفون: Xiao Han, Lin Wei, Xue Li, Wenying Nie, Bingjuan Han
المصدر: Pharmacogenomics and Personalized Medicine
مصطلحات موضوعية: Pharmacology, Pathology, medicine.medical_specialty, Microcephaly, phenotype, business.industry, Corpus Callosum Agenesis, Mowat–Wilson syndrome, Case Report, Gene mutation, medicine.disease, Frontal Bossing, Molecular Medicine, Medicine, gene mutation, Global developmental delay, Hypertelorism, medicine.symptom, business, Haploinsufficiency, ZEB2
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5234274cff09f23d49bbea895de32bcaTest
https://doi.org/10.2147/pgpm.s320128Test -
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المؤلفون: Nidhi Puri Narang, Seema Ahuja, Upasana Sethi Ahuja
المصدر: Journal of Dental Specialities. 8:21-25
مصطلحات موضوعية: medicine.medical_specialty, Depressed nasal bridge, business.industry, Enucleation, Bifid rib, medicine.disease, Dermatology, Odontogenic, stomatognathic diseases, Frontal Bossing, medicine, Basal cell carcinoma, Keratocyst, medicine.symptom, Hypertelorism, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::461fb5ad6a20f33345813136e4aa0a22Test
https://doi.org/10.18231/j.jds.2020.006Test -
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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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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: 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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المؤلفون: Alp Özgün Börcek, Tolga Türkmen, Pelin Kuzucu
المصدر: BMC Pediatrics
BMC Pediatrics, Vol 20, Iss 1, Pp 1-4 (2020)مصطلحات موضوعية: Pathology, medicine.medical_specialty, Case Report, Sacral lipoma, Frontal Bossing, medicine, Humans, Neural Tube Defects, Tethered cord syndrome, Hypertelorism, Agenesis of the corpus callosum, Spina bifida, Sotos Syndrome, business.industry, Sotos syndrome, Filum terminale, lcsh:RJ1-570, Macrocephaly, lcsh:Pediatrics, medicine.disease, Subdural hygroma, Pediatrics, Perinatology and Child Health, Mutation, Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aef4a8684fbb0628aedc83ea692ab5c6Test
https://pubmed.ncbi.nlm.nih.gov/32331522Test -
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المؤلفون: Luciana Pomarico, Adilis Kalina Felix de Alexandria, Camila Nassur, Gloria Fernanda Barbosa de Araújo Castro
المصدر: Revista Científica do CRO-RJ (Rio de Janeiro Dental Journal); Vol. 4 No. 2: May-August 2019; 42-45
Revista Científica do CRO-RJ (Rio de Janeiro Dental Journal); v. 4 n. 2: May-August 2019; 42-45
Revista Científica do CRO-RJ
Conselho Regional de Odontologia do Rio de Janeiro (CRO-RJ)
instacron:CROمصطلحات موضوعية: Odontopediatria, Saúde Oral, Tratamento dentário, business.industry, Macrocephaly, Dentistry, General Medicine, medicine.disease, Oral hygiene, Robinow syndrome, Hypoplasia, stomatognathic diseases, Frontal Bossing, stomatognathic system, medicine, Supernumerary, Pediatric Dentistry, Oral Health, Dental Treatment, Hypertelorism, medicine.symptom, business, Permanent teeth
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a313a598b892d3bb248739e1cd7ba74eTest
https://cro-rj.org.br/revcientifica/index.php/revista/article/view/110Test -
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المؤلفون: Harald Weng, Andreas Gerhardinger, Eva Rossier, Alina Henn, Günther Rettenberger, Simon Novak, Birgit Zirn
المصدر: Clinical Dysmorphology. 27:27-30
مصطلحات موضوعية: Male, 0301 basic medicine, Heterozygote, Pathology, medicine.medical_specialty, Hearing loss, Hearing Loss, Conductive, Nerve Tissue Proteins, Haploinsufficiency, 030105 genetics & heredity, Pathology and Forensic Medicine, Craniofacial Abnormalities, 03 medical and health sciences, Frontal Bossing, Ptosis, otorhinolaryngologic diseases, medicine, Blepharoptosis, Humans, Genetic Predisposition to Disease, Hypertelorism, Frontonasal dysplasia, Child, Genetics (clinical), Homeodomain Proteins, Comparative Genomic Hybridization, business.industry, Infant, General Medicine, medicine.disease, Phenotype, Pedigree, Conductive hearing loss, 030104 developmental biology, Child, Preschool, Chromosomes, Human, Pair 2, Face, Mutation, Pediatrics, Perinatology and Child Health, Female, Anatomy, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d69c64ed97ce5a22be3d55f49380b06Test
https://doi.org/10.1097/mcd.0000000000000213Test -
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المؤلفون: Kate Chandler, Sara Faily, Jill E. Urquhart, Jill Clayton-Smith, Rahat Perveen
المصدر: Faily, S, Perveen, R, Urquhart, J, Chandler, K & Clayton-Smith, J 2017, ' Confirmation that mutations in DDX59 cause an autosomal recessive form of oral-facial-digital syndrome : Further delineation of the DDX59 phenotype in two new families ', European journal of medical genetics . https://doi.org/10.1016/j.ejmg.2017.07.009Test
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Proband, Microcephaly, Genes, Recessive, 030105 genetics & heredity, Biology, medicine.disease_cause, 03 medical and health sciences, Frontal Bossing, Tongue, Genetics, medicine, Humans, Genetics(clinical), Hypertelorism, Child, Genetics (clinical), Mutation, Infant, General Medicine, Orofaciodigital Syndromes, medicine.disease, Phenotype, Stop codon, Pedigree, 030104 developmental biology, medicine.anatomical_structure, Child, Preschool, Codon, Terminator, Female, medicine.symptom, RNA Helicases
وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d92b2e815edb458818a687b023d628eTest
https://doi.org/10.1016/j.ejmg.2017.07.009Test -
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المؤلفون: Elaine H. Zackai, Beth Keena, Chaya N. Murali
المصدر: Clinical Dysmorphology. 27:135-137
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Limb Deformities, Congenital, Dwarfism, Choanal atresia, 030105 genetics & heredity, Article, Pathology and Forensic Medicine, Hypoplastic left heart syndrome, Craniofacial Abnormalities, 03 medical and health sciences, Frontal Bossing, medicine, Humans, Hypertelorism, Genetics (clinical), Omphalocele, business.industry, Infant, General Medicine, medicine.disease, Robinow syndrome, Surgery, Urogenital Abnormalities, Pediatrics, Perinatology and Child Health, Anteverted nares, Female, Anatomy, medicine.symptom, Imperforate anus, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a41db4ea1609700327e877a89770713dTest
https://doi.org/10.1097/mcd.0000000000000230Test
