Results 111 to 120 of about 3,454 (261)

To Collocate or not to Collocate: Exploring Verb-Noun Collocations of Turkish EFL Learners

open access: yesSAGE Open
A growing body of learner corpus research underscores the pivotal role of collocational competence in achieving advanced L2 proficiency. Verb–noun collocations have been identified as particularly challenging for L2 learners, largely due to their ...
Sibel Aybek
doaj   +1 more source

Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness   +11 more
wiley   +1 more source

PRISM, a Bidirectional NMR Foundation Model: From Peak List to Structure and Back

open access: yesAngewandte Chemie, EarlyView.
Structure elucidation from NMR can consume an expert for hours or even days. PRISM addresses this with a bidirectional transformer trained on 1.19 M real experimental spectra: it translates 1H and 13C peak lists into structures with 60.1% stereo‐aware top‐1 accuracy (72.5% stereo‐unaware), and, working in reverse, predicts spectra back from structures,
Ajnabiul Hoque, Frank Glorius
wiley   +2 more sources

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto   +5 more
wiley   +1 more source

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

open access: yesAmerican 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   +11 more
wiley   +1 more source

Biallelic PAX6 Variants in an Adult With Severe Microphthalmia and Preserved Intellectual Function

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PAX6 encodes a dosage‐sensitive transcription factor that is essential for eye development. Heterozygous PAX6 disease is well characterized, but biallelic disease is extremely rare and has been associated with anophthalmia, severe brain malformations, and perinatal lethality.
Karl De Geer   +4 more
wiley   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen   +13 more
wiley   +1 more source

‘I Used to Be Illegal and Now I'm a Priority’: A Critical Thematic Analysis of LGBTI+ Voices From the Australian Royal Commission Into Aged Care

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Due to historic and anticipated discrimination, engaging aged care services can see LGBTI+ older adults conceal their sexual orientation, gender identity or gender expression. Recommendations from the Australian Royal Commission into Aged Care claim to have addressed the needs of a range of diversity groups, including the needs of LGBTI+ older
Patricia Cain   +2 more
wiley   +1 more source

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