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Journal Article
Otology & Neurotology, ISSN 1531-7129, 01/2017, Volume 38, Issue 1, pp. 73 - 78
OBJECTIVE:The focus of this study was to evaluate the prevalence, type, and severity of hearing impairment in patients with velo-cardio-facial syndrome (VCFS)... 
22q11 deletion | Velo-cardio-facial syndrome | Hearing loss | CHROMOSOME | OTORHINOLARYNGOLOGY | VELOCARDIOFACIAL SYNDROME | SPECTRUM | MIDDLE | CLINICAL NEUROLOGY | Prevalence | DiGeorge Syndrome - complications | Hearing Loss - etiology | Hearing Loss - epidemiology | Humans | Child, Preschool | Female | Male | Retrospective Studies | Child
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 10/2001, Volume 10, Issue 22, pp. 2549 - 2556
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 03/2019, Volume 179, Issue 3, pp. 448 - 454
Journal Article
European Archives of Oto-Rhino-Laryngology, ISSN 0937-4477, 2/2012, Volume 269, Issue 2, pp. 381 - 387
The allelic loss of 22q11.2 results in various developmental failures of pharyngeal pouch derivatives (“22q11.2 deletion syndromes”, 22q.11DS), consequently... 
Medicine & Public Health | DiGeorge syndrome | Malformation | Thyroid disease | Head and Neck Surgery | Development | Otorhinolaryngology | Neurosurgery | MICRODELETION | POPULATION | DEFECTS | ANOMALIES | PREVALENCE | TUMORS | DIGEORGE-SYNDROME/VELOCARDIOFACIAL SYNDROME | OTORHINOLARYNGOLOGY | CHROMOSOME-22 | SPECTRUM | CARDIO-FACIAL SYNDROME | 22q11 Deletion Syndrome - diagnosis | Thyroid Neoplasms - diagnosis | Adenoma - genetics | Humans | Genes, Suppressor | Child, Preschool | Image Interpretation, Computer-Assisted | Otorhinolaryngologic Diseases - genetics | Arteriovenous Malformations - diagnosis | Male | Tomography, X-Ray Computed | Loss of Heterozygosity - genetics | SMARCB1 Protein | Young Adult | Chromosomes, Human, Pair 22 - genetics | Adult | Female | Respiratory System Abnormalities - genetics | Imaging, Three-Dimensional | Respiratory System Abnormalities - diagnosis | DiGeorge Syndrome - genetics | Adenoma - diagnosis | Cervical Vertebrae - abnormalities | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Gene Knockout Techniques | Carotid Arteries - abnormalities | 22q11 Deletion Syndrome - genetics | Chromosomal Proteins, Non-Histone - genetics | Thyroid Neoplasms - genetics | Arteriovenous Malformations - genetics | DiGeorge Syndrome - diagnosis | Skull Base - abnormalities | Otorhinolaryngologic Diseases - diagnosis | Thyroid gland | Public health | Thyroid diseases | Tumors
Journal Article