Results 131 to 140 of about 289,006 (287)

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

Angewandte 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

American 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, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +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

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

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

American 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, Britt‐Marie Anderlid, Lena Jacobson, Daniel Martín Muñoz, Erik Björck   +4 more
wiley   +1 more source

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

American 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, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +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

Australian 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, Eyal Gringart, Davina Porock   +2 more
wiley   +1 more source

Replication data for: Pedagogical applications of learner corpora

This dataset contains replication and supplementary documentation of a systematic review of peer-reviewed research published in the period from 01 January 2014 to 08 August 2023 in the field of learner corpus research (LCR).
Karlsen, Petter Hagen, Nacey, Susan Lee
core   +1 more source

Primary teachers' acceptance and sustained adoption of AI powered learner corpora for writing instruction through TAM and ECM perspectives. [PDF]

Sci Rep
Zhang N, Wong WL, Barrot J.
europepmc   +1 more source

A deep learning-based model for automatic syntactic complexity assessment in L2 English writing: development and pedagogical application. [PDF]

Sci Rep
Wang Y, Zhao H.
europepmc   +1 more source

Stance modals in Chinese EFL learners' monologue tasks: A corpus-based study. [PDF]

PLoS One
Wang W, Wang H.
europepmc   +1 more source