Results 121 to 130 of about 439,425 (337)

NICU Infants & SNHL: Experience of a western Sicily tertiary care centre [PDF]

, 2019
Introduction: The variability of symptoms and signs caused by central nervous system (CNS) lesions make multiple sclerosis difficult to recognize,Introduction: This study adds the evaluation of the independent etiologic factors that may play a role in ...
Abita P, Alberti G, Caminiti F, Gargano R, Gazia F, Longo P, Loteta S   +6 more
core   +1 more source

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio, Huijie Yuan, Leandro Raul Soria, Sara Basse Hansen, Iolanda Boffa, Paola Arena, Benedetta Attianese, Maureen. O'Sullivan, Noelle Cullinan, Lewis Pang, Daan Marinus Ferdinand van Aalten, Nicola Brunetti‐Pierri, Sally Ann Lynch   +12 more
wiley   +1 more source

Beyond averaging: A transformer approach to decoding event related brain potentials

NeuroImage
The objective of this study is to assess the potential of a transformer-based deep learning approach applied to event-related brain potentials (ERPs) derived from electroencephalographic (EEG) data. Traditional methods involve averaging the EEG signal of
Philipp Zelger, Manuel Arnold, Sonja Rossi, Josef Seebacher, Franz Muigg, Simone Graf, Antonio Rodríguez-Sánchez   +6 more
doaj   +1 more source

Noise-induced hearing disorders: Clinical and investigational tools. [PDF]

J Acoust Soc Am, 2023
Le Prell CG, Clavier OH, Bao J.
europepmc   +1 more source

The Relationship Between Mother-Child Interaction and Spiritual Well-being and Child Behavioral Disorders Through the Moderating Role of Mental Health in Mothers of Children With Hearing Impairment [PDF]

, 2021
Maryam Pourseyyed Mohammad, Farah Naderi, Parvin Ehteshamzadeh, Parviz Asgari   +3 more
openalex   +1 more source

Musical Ear Syndrome: What Do We Know? [PDF]

, 2017
The purpose of this study was to review the existing literature regarding Musical Ear Syndrome and other related auditory hallucinations. While the existence of auditory hallucinations is evident, their cause is unclear and widely understudied. There was
Pestel, Cara D.
core   +2 more sources

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, Allison Daley, Emily R. Sites, Shayne M. Plourde, Jesse M. Hunter, Dennis W. Bartholomew, April N. Lehman, Daniel C. Koboldt, Rolf W. Stottmann   +8 more
wiley   +1 more source

Regulatory status of complementary medicine in Qatar: An update

Integrative Medicine Research, 2022
Zainab AlMusleh, Tamer Aboushanab
doaj   +1 more source

A scoping review of interaction dynamics in minimally verbal autistic individuals

Frontiers in Psychology
Interaction dynamics provide information about how social interactions unfold over time and have implications for communication development. Characterizing social interaction in autistic people who are minimally verbal (MV) has the potential to ...
Olivia Boorom, Talia Liu
doaj   +1 more source

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, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source