Results 201 to 210 of about 2,144,308 (280)

Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert   +4 more
wiley   +1 more source

Structure and Function of a Multi‐Megadalton Virus‐Like Proteolytic Dodecahedron

open access: yesAngewandte Chemie, EarlyView.
Zuzalysin, a virulence metallopeptidase of the periodontal pathogen Porphyromonas gingivalis, is secreted as a latent, flexible ≈95‐kDa monomer. Calcium triggers cysteine‐switch activation and hierarchical assembly into pentamers, bipentamers, tripentamers, and a ≈5.6‐MDa, ≈355‐Å dodecahedron. Structures at 1.8–3.6 Å reveal a virus‐sized catalytic cage
Mariusz Madej   +20 more
wiley   +2 more sources

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan   +13 more
wiley   +1 more source

Adenylation Domain Engineering Enables Biosynthesis of an Improved Polymyxin Antibiotic

open access: yesAngewandte Chemie, EarlyView.
To enable incorporation of l‐2‐aminodecanoic acid into polymyxin by fermentation, a single Trp‐to‐Ala substitution is rationally introduced into the adenylation‐domain residue of its nonribosomal peptide synthetase (NRPS) and efficiently switches substrate selectivity. The engineered strain produces biologically active Ada‐polymyxin, demonstrating that
Maximilian Müll   +7 more
wiley   +2 more sources

Identifying the Service Requirements for Primary Sexual Assault Medical Care and Forensic Evidence Collection in a Remote First Nations Community

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT First Nations female sexual assault survivors in remote Northern Territory (NT) face significant barriers accessing place‐based medical care and forensic evidence collection, subsequently requiring evacuation to specialist services. Using decolonising Participatory Action Research methods, this study identified the workforce, training, and ...
Theresa Clasquin   +7 more
wiley   +1 more source

Early vs Conventional Oral Feeding after Pancreaticoduodenectomy: A Prospective Observational Study. [PDF]

open access: yesEuroasian J Hepatogastroenterol
Sharma A   +8 more
europepmc   +1 more source

Cue-based feeding in the NICU-a pathway to earlier oral feeding of preterm infants. [PDF]

open access: yesFront Pediatr
Ofek Shlomai N   +4 more
europepmc   +1 more source

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