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American journal of medical genetics. Part A, ISSN 1552-4825, 03/2018, Volume 176, Issue 3, pp. 638 - 648
craniofacial microsomia | Goldenhar Syndrome | hemifacial microsomia | oculoauriculovertebral syndrome | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Goldenhar Syndrome - epidemiology | Prevalence | Genetic Association Studies | Humans | Middle Aged | Child, Preschool | Goldenhar Syndrome - genetics | Infant | Male | DNA Copy Number Variations | Young Adult | Phenotype | Goldenhar Syndrome - diagnosis | Adolescent | Chromosome Aberrations | Adult | Female | Cytogenetic Analysis | Child | Infant, Newborn | Medicine, Experimental | Medical research | Hypoplasia | Phenotypes | Mandible | Copy number | Heredity | Environmental factors | Chromosome 4 | Pharynx | Embryogenesis | Asymmetry | Etiology | Neck | Microtia | Polygenic inheritance | Appendages | Index Medicus
Journal Article
The Cleft palate-craniofacial journal, ISSN 1055-6656, 5/2018, Volume 55, Issue 5, pp. 769 - 772
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 05/2017, Volume 173, Issue 5, pp. 1208 - 1218
microtia | oculoauriculovertebral spectrum | anotia | Goldenhar | hemifacial microsomia | mandibular hypoplasia | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Cleft Palate - diagnosis | Maxillofacial Abnormalities - genetics | Cleft Lip - diagnosis | Humans | Middle Aged | Facial Asymmetry - genetics | Child, Preschool | Goldenhar Syndrome - genetics | Infant | Male | Cleft Palate - genetics | Young Adult | Goldenhar Syndrome - physiopathology | Goldenhar Syndrome - diagnosis | Female | Child | Abnormalities, Multiple - genetics | Mandible - abnormalities | Maxillofacial Abnormalities - physiopathology | Facial Asymmetry - physiopathology | Cleft Palate - physiopathology | Maxillofacial Abnormalities - diagnosis | Ear, External - abnormalities | Cleft Lip - genetics | Cleft Lip - physiopathology | Abnormalities, Multiple - diagnosis | Facial Asymmetry - diagnosis | Adolescent | Ears & hearing | Index Medicus
Journal Article
Clinical oral investigations, ISSN 1432-6981, 3/2016, Volume 20, Issue 2, pp. 219 - 225
Oculoauriculovertebral spectrum | Facial asymmetry | Goldenhar syndrome | Dentistry | Computed tomography | Image reconstruction | Life Sciences & Biomedicine | Dentistry, Oral Surgery & Medicine | Science & Technology | Goldenhar Syndrome - diagnostic imaging | Humans | Child, Preschool | Infant | Male | Tomography, X-Ray Computed | Patient Care Planning | Goldenhar Syndrome - surgery | Adolescent | Female | Retrospective Studies | Imaging, Three-Dimensional | Child | Anatomic Landmarks
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 08/2013, Volume 161, Issue 8, pp. 2030 - 2035
oculoauriculovertebral spectrum | 14q23.1 duplication | Goldenhar syndrome | OTX2 | hemifacial microsomia | Oculoauriculovertebral spectrum | Hemifacial microsomia | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Chromosome Duplication | Humans | Goldenhar Syndrome - genetics | In Situ Hybridization, Fluorescence | Phenotype | Comparative Genomic Hybridization | Genes, Dominant | Goldenhar Syndrome - diagnosis | Otx Transcription Factors - genetics | Pedigree | Adult | Female | Chromosomes, Human, Pair 14 - genetics | Index Medicus | Central nervous system
Journal Article
European journal of human genetics : EJHG, ISSN 1018-4813, 08/2014, Volume 22, Issue 8, pp. 1026 - 1033
FERTILIZATION | GOLDENHAR-SYNDROME | ABNORMALITIES | Europe | DYSPLASIA | CLASSIFICATION | HEMIFACIAL MICROSOMIA | congenital anomalies | OAVS | epidemiology | DOMINANT OCULOAURICULOVERTEBRAL SPECTRUM | oculo-auriculo-vertebral spectrum | OCULOAURICULOFRONTONASAL SYNDROME | MANIFESTATIONS | Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Abnormalities, Multiple - etiology | Prevalence | Developmental Disabilities - etiology | Humans | Prenatal Diagnosis | Risk Factors | Europe - epidemiology | Male | Developmental Disabilities - epidemiology | Pregnancy | Young Adult | Phenotype | Abnormalities, Multiple - diagnosis | Chromosome Aberrations | Abnormalities, Multiple - epidemiology | Adult | Female | Registries | Developmental Disabilities - diagnosis | Population Surveillance | In vitro fertilization | Neonates | Congenital defects | Genes | Stenosis | Population studies | Infants | Genomes | Birth | Epidemiology | Risk factors | Defects | Reproduction | Ear canal | Genetics | Chromosomes | Ultrasound | Public health | Vertebrae | Congenital diseases | Fetuses | Diabetes mellitus | Patients | Prenatal diagnosis | Ear | Epigenetics | Diabetes | Microtia | Index Medicus
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 08/2010, Volume 152A, Issue 8, pp. 1984 - 1989
array‐CGH | oculoauriculovertebral spectrum | Goldenhar syndrome | OAVS | Oculoauriculovertebral spectrum | Array-CGH | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Biological and medical sciences | Medical sciences | Diseases of the osteoarticular system | Malformations and congenital and or hereditary diseases involving bones. Joint deformations | Medical genetics | Biomarkers - metabolism | Oligonucleotide Array Sequence Analysis | Humans | Child, Preschool | Goldenhar Syndrome - genetics | Infant | Male | Gene Expression Profiling | Young Adult | Comparative Genomic Hybridization | Adolescent | Chromosome Aberrations | Adult | Female | Child | Infant, Newborn | Cohort Studies | Index Medicus
Journal Article
European journal of medical genetics, ISSN 1769-7212, 2015, Volume 58, Issue 9, pp. 455 - 465
Medical Education | Oculoauriculovertebral spectrum | First and second branchial arch | Goldenhar syndrome | Copy number variation | Preauricular tags | Hemifacial microsomia | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Eye Abnormalities - diagnosis | Ear - abnormalities | Humans | Ear - embryology | Hernia, Diaphragmatic - genetics | Goldenhar Syndrome - genetics | Male | Developmental Disabilities - genetics | Brain - abnormalities | Eye Abnormalities - genetics | Spine - abnormalities | Heart Defects, Congenital - genetics | Comparative Genomic Hybridization | Goldenhar Syndrome - diagnosis | Abnormalities, Multiple - diagnosis | Female | Heart Defects, Congenital - diagnosis | Hernia, Diaphragmatic - diagnosis | Abnormalities, Multiple - genetics | Hospitals | Medical genetics | Index Medicus
Journal Article
Journal of cranio-maxillo-facial surgery, ISSN 1010-5182, 2011, Volume 42, Issue 8, pp. 2064 - 2068
Surgery | Goldenhar–Gorlin syndrome | Oculoauriculovertebral dysplasia | Mandibular asymmetry | Goldenhar-Gorlin syndrome | Life Sciences & Biomedicine | Dentistry, Oral Surgery & Medicine | Science & Technology | Facial Asymmetry - pathology | Mandible - abnormalities | Nose - abnormalities | Follow-Up Studies | Humans | Eye Neoplasms - pathology | Male | Psychomotor Performance - physiology | Ribs - abnormalities | Dermoid Cyst - pathology | Tracheal Stenosis - pathology | Coloboma - pathology | Thoracic Vertebrae - abnormalities | Cleft Lip - pathology | Goldenhar Syndrome - diagnosis | Cleft Palate - pathology | Fatal Outcome | Infant, Newborn | Medical colleges | Birth defects | Genetic disorders | Index Medicus | Dentistry
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 02/2017, Volume 173, Issue 2, pp. 309 - 314
Oculoauriculovertebral spectrum | audiology | Goldenhar syndrome | hearing sciences | language | speech | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Hearing Loss - diagnosis | Prospective Studies | Humans | Child, Preschool | Goldenhar Syndrome - genetics | Infant | Male | Hearing Loss - genetics | Young Adult | Phenotype | Goldenhar Syndrome - diagnosis | Adolescent | Physical Examination | Adult | Female | Child | Hearing Tests | Medicine, Experimental | Medical research | Speech therapists | Speech therapy | Embryogenesis | Etiology | Ear | Auditory system | Ear canal | Speech | Ears & hearing | Children | Hearing protection | Microtia | Hearing impairment | Hearing loss | Index Medicus
Journal Article