Results 91 to 100 of about 1,011,375 (291)

Characterization and Analysis of PHEX Variants in Patients With Hypophosphatemia in Argentina

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Confirming the underlying molecular etiology of hereditary hypophosphatemia (HH) to provide recurrence risk counseling is highly important. Our aims were to describe the detected variants and their distribution across Argentina and to contrast them with published data.
Silvia Ávila, Sara Fernández, Maximiliano Zeballos, María Georgina Poggio   +3 more
wiley   +1 more source

The Value of the Hearing Education Arcade in Educating Caregivers of Hearing-Impaired Patients

Proceedings of Singapore Healthcare, 2012
Introduction: Although technological advancements have improved the treatment outcomes of hearing-impaired patients, challenges still exist as caregivers are not able to fully appreciate patients' difficulties in communication.
Wong Kein Low PhD, FRCS, Mandy Phua MSoc Sci, LSLS Cert AVT   +1 more
doaj   +1 more source

Spinal Involvement in Charge Syndrome: Implications for Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 more
wiley   +1 more source

Organisation

, 2017
This record was harvested from a previous catalogue system and will be withdrawn in 2025. Information in this record may be superseded or incomplete. Visit this record in UMA's new catalogue at: https://archives.library.unimelb.edu.au/nodes/view/57637The
Advisory Council For Children With Impaired Hearing
core  

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

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

The Impact of Executive Dysfunction on Anxiety in Hearing-Impaired College Students: Smartphone Addiction as a Mediator and Academic Procrastination as a Moderator [PDF]

Zhiheng Xiong,1,* Guomin Li,2,* Jiejia Chen,3 Li Peng1 1School of Humanities, Southeast University, Nanjing, People’s Republic of China; 2School of Education Science, Nanjing Normal University of Special Education, Nanjing, People’s Republic of ...
Li G, Xiong Z, Chen J, Peng L
core  

PSYNDEX Tests Review für CPHI - COMMUNICATION PROFILE FOR THE HEARING IMPAIRED - DEUTSCHE FASSUNG

, 1994
This is a PSYNDEX Tests Review of CPHI - COMMUNICATION PROFILE FOR THE HEARING IMPAIRED - DEUTSCHE FASSUNG. PSYNDEX Tests Reviews are written in German and describe and evaluate psychological and educational tests used in the German-speaking countries ...
Weiderer, Monika
core   +1 more source

Hearing Aid Amplification Reduces Communication Effort of People With Hearing Impairment and Their Conversation Partners

, 2020
ObjectivesThis study investigates the hypothesis that hearing aid amplification reduces effort within conversation for both hearing aid wearers and their communication partners.
Keidser, Gitte,, Beechey, Timothy,, Buchholz, Jörg M.,   +2 more
core   +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