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6841
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Genetic findings of Sanger and nanopore single-molecule sequencing in patients with X-linked hearing loss and incomplete partition type III
Published 2022-02-01“…Abstract Background POU3F4 is the causative gene for X-linked deafness-2 (DFNX2), characterized by incomplete partition type III (IP-III) malformation of the inner ear. …”
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6843
Plasmodium falciparum selectively degrades α-spectrin of infected erythrocytes after invasion
Published 2024-04-01Get full text
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6844
Relato de um paciente brasileiro com síndrome de Wolfram Report of a Brazilian patient with Wolfram syndrome
Published 2002-12-01“…Wolfram Syndrome is characterized by the presence of diabetes mellitus, diabetes insipidus, atrophy of the optic nerve, alterations of the urinary tract, deafness and neurologic and psychiatric disorders. …”
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6845
Validity and Reliability of Family Time and Routines Index in the Families of Children With Autism
Published 2019-07-01“…Inclusion criteria were the diagnosis of autism by a child psychiatrist, based on the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-V), the age of 3-11 years, and the absence of blindness, deafness, epilepsy, and other disabilities in the child. …”
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6846
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6847
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6848
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6849
Cochlin Deficiency Protects Against Noise-Induced Hearing Loss
Published 2021-05-01Get full text
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6850
Postnatal diagnostics of the Pallister-Killian syndrome using interphase nuclei of buccal mucosa by fluorescence in situ hybridization method
Published 2019-12-01“…Occasional abnormalities included the following: in the first case, there was central amaurosis and congenital deafness; the second patient presented with additional breast nipples (six in total); in the third case a congenital heart defect was observed. …”
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6851
Burden of sequelae and healthcare resource utilization in the first year of life in infants born with congenital cytomegalovirus (cCMV) infection in Germany: A retrospective statut...
Published 2023-01-01“…Compared to the 3,240 and 1,440 controls, respectively, more cCMV90 infants (83.3% vs. 41.9%, p<0.01) presented with at least one sequela during the first year of life, including intrauterine growth retardation (42.6% vs. 5.3%, p<0.01), sensorineural hearing loss (SNHL) to deafness (38.9% vs. 2.2%, p<0.01), and motor development disorders (33.3% vs. 10.9%, p<0.01). …”
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6853
Identification of common stria vascularis cellular alteration in sensorineural hearing loss based on ScRNA-seq
Published 2024-02-01“…The pathogenesis of a number of human inheritable deafness syndromes, age related hearing loss, drug-induced ototoxicity and noise-induced hearing loss results from the morphological changes and functional impairments in the development of the SV. …”
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6854
Infección congénita por citomegalovirus: presentación de tres casos y revisión de la literatura Congenital cytomegalovirus infection: a presentation of three cases and a literature...
Published 2012-06-01“…<br>The most frequently occurring perinatal infection is caused by cytomegalovirus (CMV); this infection is the main cause of deafness and compromise during psychomotor development in the fetus and the newborn. …”
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6855
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6857
Specific brain network predictors of interventions with different mechanisms for tinnitus patients
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6858
Competência para prestar cuidado de enfermagem transcultural à pessoa com deficiência: instrumento de autoavaliação Competencia para prestar cuidado de enfermería transcultural a p...
Published 2012-10-01“…The Self-Assessment Instrument of Competencies for Cross-Cultural Nursing Care to Disabled People was constructed, specifically deafness, blindness or low sight, physical impairment and mental impairment, regarding greeting, accepting, helping, knowing and advocating. …”
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6859
Cytomegalovirus seroepidemiology in an urban community of São Paulo, Brazil Soroepidemiologia da citomegalovirose em comunidade urbana de São Paulo, Brasil
Published 2001-04-01“…INTRODUCTION: After the era of rubella vaccine, cytomegalovirus (CMV) infection is one of the most frequently causes of mental retardation and congenital deafness. Seroepidemiological studies are necessary to understand the transmission dynamics of the disease. …”
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6860