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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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المصدر: International Journal of Integrated Health Sciences, Vol 6, Iss 1, Pp 6-10 (2018)
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Medical record, lcsh:R, fluid diversion, lcsh:Medicine, Nutritional status, medicine.disease, Tuberculous meningitis, Hydrocephalus, Surgery, Frontal Bossing, medicine, Sunset eye, General hospital, Complication, business, hydrocephalus
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1021f9565e4750cbf36e098815f5fceeTest
http://journal.fk.unpad.ac.id/index.php/ijihs/article/view/1048Test -
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المؤلفون: Gareth Evans, Timur Tuncalı, Miriam J. Smith, Pelin Ertop, Ceren D. Durmaz, Bengü Nisa Akay
المصدر: Cytogenetic and Genome Research. 154:57-61
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Macrocephaly, Nevoid basal-cell carcinoma syndrome, Biology, medicine.disease, Frameshift mutation, Falx cerebri, PTCH2, stomatognathic diseases, 03 medical and health sciences, Frontal Bossing, 030104 developmental biology, 0302 clinical medicine, PTCH1, 030220 oncology & carcinogenesis, Genetics, medicine, medicine.symptom, Keratocyst, Molecular Biology, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5771581a945689e7f87cc5e7bc76fa55Test
https://doi.org/10.1159/000487747Test -
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المؤلفون: Bidyut Roy, Anjana Mazumdar, Nishat Anjum, Anindita Ray, Esita Chattopadhyay, Sandip Ghose
المصدر: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology. 124:e261-e265
مصطلحات موضوعية: Male, 0301 basic medicine, India, Receptors, Cell Surface, 030105 genetics & heredity, medicine.disease_cause, Pathology and Forensic Medicine, 03 medical and health sciences, Frontal Bossing, Exon, Atrophy, Optic Atrophies, Hereditary, medicine, OMIM : Online Mendelian Inheritance in Man, Humans, Missense mutation, Radiology, Nuclear Medicine and imaging, Dentistry (miscellaneous), Allele, GAPO syndrome, Child, Growth Disorders, Anodontia, Genetics, Mutation, business.industry, Microfilament Proteins, Alopecia, medicine.disease, Neoplasm Proteins, Phenotype, 030104 developmental biology, Surgery, Oral Surgery, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e495984148a6c372350a781feddce2a7Test
https://doi.org/10.1016/j.oooo.2017.07.009Test -
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المؤلفون: Murat Şereflican, Siddika Halicioglu, Bengü Tuman, Seval Bayrak, Betül Şereflican, Gulzade Ozyalvacli
المصدر: Türk Pediatri Arşivi. 52:173-177
مصطلحات موضوعية: Leiomyosarcoma, Medulloblastoma, medicine.medical_specialty, business.industry, Case Report, 030206 dentistry, medicine.disease, Dermatology, Falx cerebri, stomatognathic diseases, 03 medical and health sciences, Frontal Bossing, 0302 clinical medicine, medicine.anatomical_structure, Scalp, Pediatrics, Perinatology and Child Health, medicine, Basal cell carcinoma, Fibroma, business, Unilateral Retinoblastoma, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5437854bc65811343d739e610536ea11Test
https://doi.org/10.5152/turkpediatriars.2017.2992Test -
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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: Qamar Zaman, Ricarda Flöttmann, Muhammad Afzal, Uwe Kornak, Sajid Malik, Stefan Mundlos
المصدر: European Journal of Medical Genetics. 60:421-425
مصطلحات موضوعية: Male, 0301 basic medicine, RNA Splicing, Scoliosis, 030105 genetics & heredity, Short stature, 03 medical and health sciences, Frontal Bossing, Genetics, Humans, Medicine, Syndactyly, Child, LDL-Receptor Related Proteins, Genetics (clinical), business.industry, Ulna, General Medicine, Anatomy, medicine.disease, Renal hypoplasia, Hypoplasia, Pedigree, Phenotype, 030104 developmental biology, medicine.anatomical_structure, Agenesis, Mutation, Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e92e86c5d8c855cdc2b15cd1e7178771Test
https://doi.org/10.1016/j.ejmg.2017.05.004Test -
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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 -
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المؤلفون: Joern Wittig, Christian Duncan
المصدر: Journal of Craniofacial Surgery. 28:920-923
مصطلحات موضوعية: medicine.medical_specialty, Esthetics, Craniosynostoses, Bioinformatics, 03 medical and health sciences, Frontal Bossing, 0302 clinical medicine, Hairline lowering, Suture (anatomy), Humans, Medicine, In patient, Forehead, business.industry, Scaphocephaly, Infant, General Medicine, Plastic Surgery Procedures, medicine.disease, Surgery, medicine.anatomical_structure, Otorhinolaryngology, Child, Preschool, 030220 oncology & carcinogenesis, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e3f7700ceeb27a19a3c0d69dd4616aeTest
https://doi.org/10.1097/scs.0000000000003540Test -
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المؤلفون: M. Rahman, O. Ou yang, William R. Walsh, Damian D. Marucci, Mark P. Gianoutsos, Jeremy Hunt, Robert J. Gates
المصدر: Journal of Plastic, Reconstructive & Aesthetic Surgery. 70:673-685
مصطلحات موضوعية: Male, medicine.medical_specialty, Cephalometry, medicine.medical_treatment, Spring (mathematics), Craniosynostoses, 03 medical and health sciences, Frontal Bossing, 0302 clinical medicine, medicine, Humans, Postoperative Care, Cephalic index, business.industry, Skull, Scaphocephaly, Infant, Occiput, Cranial Sutures, Organ Size, Length of Stay, Plastic Surgery Procedures, Craniometry, Surgical Instruments, medicine.disease, Cranioplasty, Surgery, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Female, Tomography, X-Ray Computed, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a1c8fdad3c9dfa840e9cdbc9dd24281Test
https://doi.org/10.1016/j.bjps.2016.12.004Test