Results 71 to 80 of about 100,750 (284)
Development of Language and Social Skills in Hearing-impaired Children With and Without Rehabilitation [PDF]
علوم بهداشتی ایرانBackground and Purpose: Language learning and socialization is a natural process unique to humans. Profound hearing loss has far-reaching consequences for speech and personal-social development.
Parvin Veiskarami +2 more
doaj
The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley +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
The ICT Usage in Teaching Maths to Children with Hearing Impairment
, 2021 Kateryna Bondar +2 more
openalex +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
Pamukkale Spor Bilimleri Dergisi, 2021 The aim of this study was to investigate the perceived benefit/barrier perceptions of individuals with disabilities. A total of 321 disabled individuals, N = 145 (45.2%) female, N = 176 (54.8%) male, participated in the study. Among these disabilities, N
Melih SUNGUR, Bengü GÜVEN
doaj
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
Hearing Impairment in Childhood Bacterial Meningitis Is Little Relieved by Dexamethasone or Glycerol [PDF]
, 2009 Heikki Peltola +13 more
openalex +1 more source