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1Further evidence for the involvement of human chromosome 6p24 in the aetiology of orofacial clefting
المؤلفون: M Matsuno, K Imaizumi, Ghazala Mirza, Y Kuroki, Jiannis Ragoussis, A F Davies, R S Stephens
المصدر: Journal of Medical Genetics. 35:857-861
مصطلحات موضوعية: Craniofacial abnormality, Translocation Breakpoint, Chromosome 9, Chromosomal translocation, Biology, Translocation, Genetic, Craniofacial Abnormalities, Frontal Bossing, Genetics, medicine, Humans, Hypertelorism, In Situ Hybridization, Fluorescence, Genetics (clinical), Breakpoint, Chromosome Mapping, Infant, Karyotype, Anatomy, medicine.disease, Cleft Palate, Face, Karyotyping, Chromosomes, Human, Pair 6, Female, medicine.symptom, Chromosomes, Human, Pair 9, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d71527092495957841e08e93e0afead1Test
https://doi.org/10.1136/jmg.35.10.857Test -
2
المصدر: BMJ Case Reports. :bcr2016215682
مصطلحات موضوعية: myalgia, Pediatrics, medicine.medical_specialty, Rickets, Short stature, Article, Diagnosis, Differential, 03 medical and health sciences, Frontal Bossing, 0302 clinical medicine, 030225 pediatrics, Deformity, medicine, Humans, Osteochondrosis, Blount's disease, Obesity, Osteodystrophy, Child, Bone Diseases, Developmental, 030222 orthopedics, Tibia, business.industry, General Medicine, medicine.disease, Radiography, Failure to thrive, Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45fe9e1169655ff055bf66528b799888Test
https://doi.org/10.1136/bcr-2016-215682Test -
3
المؤلفون: Brian Hy Chung, Lauren Chad, Daniele Merico, David Chitayat, Christian R. Marshall, D James Stavropoulos, Riyana Babul-Hirji
المصدر: Journal of Medical Genetics. 52:A1.2-A1
مصطلحات موضوعية: education.field_of_study, Pediatrics, medicine.medical_specialty, Population, Anatomy, Biology, Hypotonia, Frontal Bossing, medicine.anatomical_structure, Mutation (genetic algorithm), Genetics, Forehead, medicine, Global developmental delay, medicine.symptom, Hypertelorism, education, Genetics (clinical), Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d2b462eb2a8d0ef05e75111a659d1f20Test
https://doi.org/10.1136/jmedgenet-2015-103577.2Test -
4
المؤلفون: Sharon L. Wenger, B V Ndah, Jeffrey A Stead, Marybeth Hummel, Leo R. Brancazio
المصدر: Journal of Medical Genetics. 37:551-553
مصطلحات موضوعية: Chromosome 7 (human), Proband, Short neck, Anatomy, Biology, medicine.disease, Frontal Bossing, Gene duplication, Genetics, medicine, Caesarian section, Hypertelorism, medicine.symptom, Letters to the Editor, Trisomy, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1370d52b61a60157354499615be0dc61Test
https://doi.org/10.1136/jmg.37.7.551Test -
5
المؤلفون: Abhijai Singh, Subhash Varma
المصدر: Case Reports. 2014:bcr2014207637-bcr2014207637
مصطلحات موضوعية: Male, Delayed puberty, Saddle nose, Craniofacial abnormality, Short stature, Article, Craniofacial Abnormalities, Diagnosis, Differential, Young Adult, Frontal Bossing, biology.animal, Cranial vault, medicine, Humans, biology, business.industry, Skull, beta-Thalassemia, General Medicine, Anatomy, medicine.disease, Chipmunk, Radiography, medicine.anatomical_structure, Anemia, Hemolytic, Autoimmune, medicine.symptom, business, Blood Chemical Analysis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eff08f1588ffd045bf44ef4b3a9ec231Test
https://doi.org/10.1136/bcr-2014-207637Test -
6
المؤلفون: Ozlem Giray, Yasemin Topcu, Erhan Bayram, Derya Erçal, Semra Hiz, Handan Cakmakci
المصدر: Archives of Disease in Childhood. 99:A517.3-A518
مصطلحات موضوعية: In vivo magnetic resonance spectroscopy, Clinodactyly, business.industry, Anatomy, medicine.disease, White matter, Frontal Bossing, medicine.anatomical_structure, Cerebrospinal fluid, Angelman syndrome, Pediatrics, Perinatology and Child Health, Parenchyma, medicine, medicine.symptom, business, Urine organic acids
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3ac4fcb2ed0fcdcf7fce104b2f4f8db1Test
https://doi.org/10.1136/archdischild-2014-307384.1440Test -
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المؤلفون: S. Hadded, M.N. Guediche, M Charfi, S. Hammami, Habib Besbes, C. Ben Meriem
المصدر: Archives of Disease in Childhood. 99:A363.4-A364
مصطلحات موضوعية: Percentile, Pediatrics, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Birth weight, Silver–Russell syndrome, Physical examination, Growth hormone, medicine.disease, FACIAL MASS, Frontal Bossing, Pediatrics, Perinatology and Child Health, medicine, Blue sclerae, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::21c39729d2188211017409a4fdd56c8cTest
https://doi.org/10.1136/archdischild-2014-307384.1010Test -
8
المصدر: Journal of Medical Genetics. 28:641-643
مصطلحات موضوعية: Polyhydramnios, Foot Deformities, Congenital, Limb Deformities, Congenital, Chromosome Disorders, Trisomy, Prenatal diagnosis, Biology, Pathogenesis, Frontal Bossing, Genetics, medicine, Humans, Abnormalities, Multiple, Craniofacial, Chromosome-Aberrations-genetics, Genetics (clinical), Chromosome Aberrations, Fetus, medicine.diagnostic_test, Mosaicism, Abnormalities,-Multiple-genetics, Face-abnormalities, Anatomy, Toes, medicine.disease, Phenotype, Limb-Deformities,-Congenital, Face, Amniocentesis, Female, Abnormality, Chromosomes,-Human,-Pair-17, Chromosomes, Human, Pair 17, Research Article
وصف الملف: 1725 bytes; 654805 bytes; text/plain; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3f9a684c31db49b1b843dc0d695873aTest
https://doi.org/10.1136/jmg.28.9.641Test -
9
المؤلفون: Y D Ramkissoon, E J Mayer, C Gibbon, R J Haynes
المصدر: British Journal of Ophthalmology. 88:973-974
مصطلحات موضوعية: Letter, business.industry, Short neck, Scoliosis, Anatomy, medicine.disease, Sensory Systems, Cellular and Molecular Neuroscience, Ophthalmology, Frontal Bossing, Atrophy, Cataracts, medicine, Chondrodysplasia punctata, Microphthalmos, sense organs, business, Calcification
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33d60f954d656fb4b74d5d8248c9f01fTest
https://doi.org/10.1136/bjo.2003.038638Test -
10
المصدر: Archives of Disease in Childhood. 96:A31-A31
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Pathology, Pyramidal tracts, Internal capsule, business.industry, medicine.disease, Leukoencephalopathy, Hypodontia, Frontal Bossing, medicine.anatomical_structure, Hypogonadotropic hypogonadism, Pediatrics, Perinatology and Child Health, Centrum semiovale, medicine, Microdontia, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::40768a49016bcf64be276a7d4f7f219dTest
https://doi.org/10.1136/adc.2011.212563.63Test