Results 151 to 160 of about 322,854 (335)
Severe Nerve Enlargement in SOS2‐Related Noonan Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Noonan syndrome is a genetic multisystem congenital disorder, caused by pathogenic variants in genes that encode components of the RAS/MAPK signaling pathway. Pathogenic variants in SOS2 represent less than 2% of cases with NS. The phenotype includes a particularly high prevalence (65%) of lymphatic disease. Recently, severe nerve enlargements
Erika Leenders +11 more
wiley +1 more source
Some properties of formant frequencies of vowels uttered by hearing-impaired children [PDF]
, 1976 Shizuo Hiki, R. Kagami
openalex +1 more source
Concurrent collaborative captioning
, 2013 Captioned text transcriptions of the spoken word can benefit hearing impaired people, non native speakers, anyone if no audio is available (e.g. watching TV at an airport) and also anyone who needs to review recordings of what has been said (e.g.
Wald, Mike
core
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT KDM1A‐related neurodevelopmental disorder (CPRF, OMIM #616728) is characterized by cleft palate, global developmental delay, and distinct facial gestalt, but phenotypic knowledge of this ultra‐rare autosomal dominant disorder is limited. Here, we report on a 13‐year‐old boy with a novel heterozygous, likely pathogenic germline missense variant
Sebastian Burkart +6 more
wiley +1 more source
Parental Decision‐Making Following a Prenatal Diagnosis of Turner Syndrome: A Systematic Review
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT This systematic review investigates factors influencing parental decision‐making following a prenatal diagnosis (PND) of Turner syndrome (TS), aiming to enhance the foundation for tailored and supportive genetic counseling. A comprehensive literature search was conducted in the medical databases PubMed, Embase, and CINAHL.
Inger Lily Hjuler Dorf +2 more
wiley +1 more source
Hearing Impairment of the Workers under Noise
, 1960 Ichirô Wakisaka +2 more
openalex +2 more sources
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Turner syndrome (TS) continues to present a diagnostic challenge to healthcare professionals. The diagnostic challenges associated with TS result in delayed treatment and clinical care. Here we provide an update of the physical appearance of girls and women with TS by presenting clinical photographs and detailed clinical descriptions of 25 ...
Kirstine Stochholm +2 more
wiley +1 more source
A CASE REPORT OF SPEECH TRAINING FOR HEARING IMPAIRED CHILD
, 1964 Hijiei Ogata +2 more
openalex +2 more sources
Australian Journal of Social Issues, EarlyView.ABSTRACT Hearing loss is a poignant issue in many Aboriginal and Torres Strait Islander communities and, without sufficient support, it can also contribute to disabling life experiences. The National Disability Insurance Scheme (NDIS) is intended to provide support to eligible people experiencing disability, however, to effectively serve this ...
Hannah Lack +4 more
wiley +1 more source