Results 141 to 150 of about 444,058 (336)
Is Auditory Steady-State Response Testing the Key for Diagnosing Non-Organic Hearing Disorders? Implications for Current Audiological Practice. [PDF]
J Audiol Otol, 2022 Plioutas J +5 more
europepmc +1 more source
Age-related hearing loss and speech perception disorder: the broken interface between healthcare professionals and older adults [PDF]
, 2020 Rodolfo Sardone +2 more
openalex +1 more source
Children's naming and word-finding difficulties: descriptions and explanations [PDF]
, 2006 Purpose: There are a substantial minority of children for whom lexical retrieval problems impede the normal pattern of language development and use. These problems include accurately producing the correct word even when the word?s meaning is understood ...
Dockrell, Julie, Messer, D
core +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young +6 more
wiley +1 more source
Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat +4 more
wiley +1 more source
Criteria for selecting children for speech therapy in the public schools [PDF]
, 1961 Thesis (Ed.M.)--Boston ...
Driben, Margo, Rubin, Lillian B.
core
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley +7 more
wiley +1 more source
Clinical and investigational tools for monitoring noise-induced hyperacusis. [PDF]
J Acoust Soc Am, 2022 Jahn KN.
europepmc +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT To evaluate the prevalence of psychiatric signs and symptoms and describe psychotherapeutic and psychopharmacological interventions among children with osteogenesis imperfecta (OI). PRISMA guidelines were followed, and the study was registered in PROSPERO (CRD42024588284). Studies (n = 1419) were identified across five databases.
Julia M. Morales +13 more
wiley +1 more source