Results 151 to 160 of about 232,677 (345)

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell   +6 more
wiley   +1 more source

Congenital deafness and sinoatrial node dysfunction in mice lacking class D L-type Ca2+ channels.

open access: yesCell, 2000
J. Platzer   +7 more
semanticscholar   +1 more source

Beyond the Negative: Insights From Postnatal Medical Genetics Follow‐Up After Nondiagnostic Prenatal Exome Sequencing

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate postnatal medical genetic reassessment and reinterpretation of prenatal exome sequencing (pES) in liveborn children with prenatally identified structural anomalies and nondiagnostic prenatal genetic testing. Method We performed a retrospective chart review of 61 liveborn children with fetal structural anomalies who had ...
Sophie Albert   +4 more
wiley   +1 more source

Deaf Child - Early Detection and Management

open access: yesBengal Journal of Otolaryngology and Head Neck Surgery, 2014
A child learns to speak by hearing and interpreting. Speaking language will not develop if the child is deaf. Deafness will persist if it is not detected early. If deafness detected early and treated or hearing is provided with hearing aid or by cochlear
Bivas Adhikary
doaj  

An Exploration of the Relationships Between Science Identity and Disabled Identities in Undergraduate Science Students

open access: yesScience Education, EarlyView.
ABSTRACT Science identity is often conceptualized through constructs such as performance, competence, recognition, and interest, with prior research highlighting the roles of race, gender, and cultural background in shaping students' experiences. However, limited scholarship has examined how disability interacts with science identity in postsecondary ...
Ariel Chasen, Maura Borrego
wiley   +1 more source

Behavioural Dynamics of AI‐Assisted Project Control: Introducing the Wait Effect

open access: yesSystems Research and Behavioral Science, EarlyView.
ABSTRACT Although artificial intelligence (AI) has been increasingly applied to project optimization tasks, its influence on project managers' behavioural responses during decision‐making for the control of project execution remains underexplored.
Fredrik Kockum   +3 more
wiley   +1 more source

Identity Entanglement: Rethinking Marginality through the Intersectional, Liminal, and Antithetical

open access: yesSymbolic Interaction, EarlyView.
While identity research has given sustained attention to marginality, intersectionality, and the effects of power on identity, the formal interactional dynamics through which identities are constituted remain limited. I present identity entanglement as a useful framework for better understanding and articulating the relational complexities of identity.
Jules Vivid
wiley   +1 more source

Osmophobia in Patients With Migraine: A Systematic Review and Meta‐Analysis

open access: yesWorld Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Objective To determine the prevalence of osmophobia and to better characterize experiences reported by patients with migraine. Data Sources CINAHL, Cochrane Library, PubMed, and SCOPUS. Methods The literature was searched for articles reporting prevalence of osmophobia in patients with migraine. Primary outcome measures included proportions (%)
Erin E. Briggs   +6 more
wiley   +1 more source

The implications of genetic testing for deafness

open access: yes, 2003
http://dx.doi.org/10.1097/01.AUD.0000079800.64741 ...
Arnos, Kathleen S.
core  

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