Results 91 to 100 of about 226,514 (268)
The effects of sign language on spoken language acquisition in children with hearing loss: a systematic review protocol [PDF]
, 2013 Elizabeth M. Fitzpatrick +3 more
openalex +1 more source
AUDIOLOGIC PROFILE OF PRESCHOOL CHILDREN WITH ADENOID HYPERTROPHY AND HEARING LOSS
, 2023 Lidija Ristovska +3 more
openalex +1 more source
De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil +8 more
wiley +1 more source
پزشکی بالینی ابن سینا, 2002 Any type of hearing loss can create imperfect development of educational skills in primary school children. In this descriptive study different types of hearing loss in 22152 six years old preschool children of Hamadan province were ...
Farhad Farahani
doaj
Treatments for Idiopathic Sudden Hearing Loss: Literature Review
, 2023 HELENA WASILEWSKI +5 more
openalex +1 more source
A Novel Missense Variant in LMX1A Leads to Autosomal Dominant Nonsyndromic Hearing Loss
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Hereditary nonsyndromic hearing loss (NSHL) is a prevalent entity associated with over 150 known causative genes, including LMX1A, which has fewer than 10 reported pathogenic variants. Here we present a novel missense variant in LMX1A in a family of European descent with hereditary hearing loss. Clinical and family histories were obtained, and
Ryan Chen +3 more
wiley +1 more source
Interdisciplinary Approaches to MedicineHearing loss (HL) is defined as a partial or total inability to perceive sounds in one or both ears, varying from mild to profound levels. This study aimed to determine the audiometric profile and clinical features of hearing loss among individuals who ...
Abdul Azeem Rasouli +2 more
doaj +1 more source
Intratympanic corticosteroids for sudden sensorineural hearing loss
, 2022 Stefan K. Plontke +10 more
openalex +2 more sources
Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää +14 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim +9 more
wiley +1 more source