Results 181 to 190 of about 753,857 (301)

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Influence of hearing in the non-implanted ear and age on long-term speech recognition benefit for adult cochlear implant users with asymmetric hearing loss. [PDF]

Front Neurosci
Mihailescu S, Scharf SP, Thompson NJ, Richter ME, Dedmon MM, Sloop AD, Brown KD, Dillon MT.   +7 more
europepmc   +1 more source

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source

Hearing Aids Use Preferences Among Older Adults with Hearing Loss: A Discrete Choice Experiment. [PDF]

Patient Prefer Adherence
Liu G, Shen Y, Zhong Z, Yang Y, Yang Y, Zhang Y, Luo Y.   +6 more
europepmc   +1 more source

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno, Tatsuto Shimizu, Aiko Igarashi, Kazumi Ikeda, Masamichi Ikawa, Sumihito Togi, Hiroki Ura, Yo Niida, Katsutsugu Umeda   +8 more
wiley   +1 more source

Effectiveness of Stapedotomy in Improving Audibility and Quality of Life in Patients with Unilateral Otosclerosis – A Retrospective Study

International Archives of Otorhinolaryngology
Andrzej Pastuszak, Elżbieta Gos, Aleksandra Kolodziejak, Łukasz Plichta, Piotr Henryk Skarzynski   +4 more
doaj   +1 more source

Prevalence, Patterns, and Factors Associated with Hearing Impairment Among Children and Adolescents with Sickle Cell Disease in Eastern Uganda: A Cross-Sectional Study. [PDF]

Int J Gen Med
Adoch CO, Otto J, Amone D, Abeso J, Malaika N, Achiro K, Chebet M, Katuramu R, Hakizimana T, Pitua I, Otto KA, Abwola MO, Okejomoe AO.   +12 more
europepmc   +1 more source

NIOSH Hearing Loss Prevention Program: our research is sound

Our Team: We are an interdisciplinary research team of audiologists, engineers and scientists at the National Institute for Occupational Safety and Health (NIOSH) who actively work with partners to reduce occupational hearing loss - the most common work ...

core  

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

Emotional dynamics and hearing differentiation under a unified procedure: a field study of grassroots procuratorial hearings in China. [PDF]

Front Psychol
Liang D, Tian X, Sun S.
europepmc   +1 more source