Results 231 to 240 of about 4,578,717 (295)

Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell, Robert Geraghty, Juliana E. Arcila‐Galvis, Praveen Dhondurao‐Sudhindar, Sergio Foullerat Cañada, Fulvio D'Abrusco, Bosanka Jocic‐Jakubi, Miguel Barroso‐Gil, Valentina Serpieri, Thomas M. Kitzler, Kate E. Chandler, Eleanor G. Seaby, Gabrielle Wheway, Jennifer C. Dempsey, Dan Doherty, Enza M. Valente, John A. Sayer   +16 more
wiley   +1 more source

Responsible Clinical AI in Dentistry: Trust, Professional Autonomy, and Perceptions of Accountability Across Stakeholders in Romania-A Multidisciplinary Cross-Sectional Survey. [PDF]

Healthcare (Basel)
Mihut T, Pantea M, Chivu RD, Popescu-Spineni DM, Cristache CM.   +4 more
europepmc   +1 more source

Extending the ATP9A‐Related Phenotypic Spectrum: Indication of Schizophrenia Susceptibility

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT ATP9A, which belongs to the P4‐ATPase family of proteins, is involved in the efficient transport of vesicles from the Golgi apparatus to the plasma membrane, as well as the release of extracellular vesicles from human cells. In 2021, a loss‐of‐function variant of this gene was identified as being associated with a recessive neurodevelopmental ...
Camille Verebi, Céline Louveau, Bertrand Diebold, Natacha Gaitch, Arnaud Hubas, Martine Gautier Vallee, Jérôme Champ, Anais L'Haridon, Sophie Georgin Lavialle, Boris Chaumette, Thierry Bienvenu   +10 more
wiley   +1 more source

Semi-Synthetic Cannabinoids in Forensic Toxicology and Public Health: Analytical Challenges, Emerging Detection Strategies, and Regulatory Implications. [PDF]

Pharmaceuticals (Basel)
Aldasem AF, Ugariogu SN, Al-Matrouk A, Al-Tannak NF.   +3 more
europepmc   +1 more source

Maternal Factors Modifying the Link Between Genetic Risk for Autism and Developmental Milestones

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Although common genetic liability—quantified through polygenic risk scores (PRS)—accounts for substantial variance in autism spectrum disorder (ASD) liability, how prenatal environmental exposures interact with genetic predisposition to shape developmental outcomes remains poorly understood. Using the data from Autism Genetic Resource Exchange
Liliana D'Alesio, Vishani Nimish Patel, McKenna Walsh, Erick Messias, Ping‐I Lin   +4 more
wiley   +1 more source

Analysis of How the Term "Shall" Is Understood and Applied to the EU-HTA Regulation. [PDF]

J Mark Access Health Policy
Toumi M, Aballéa S, Fallissard B, Dussart C, Auquier P, Boyer L.   +5 more
europepmc   +1 more source

Species discordance in diatom testing for drowning diagnosis: a biological passive sampling hypothesis with forensic implications. [PDF]

Int J Legal Med
Wang B, Chen J, Cai J, Qin X, Cai J, Xu Y, Lu J, Ma Y, Duan Z, Deng J.   +9 more
europepmc   +1 more source

Fifteen-Year Referral Trends and the Gender-Affirming Care Pathway in a Predominantly Adult Gender Dysphoria Cohort: A Retrospective Cohort Study from a University-Based Center in Türkiye. [PDF]

Healthcare (Basel)
Yılmaz Abaylı H, Göverti D, Dalkıran İ, Karakoç SS, Gareayaghi A, Şişman E, Yıldırımoğlu NU, Polat A.   +7 more
europepmc   +1 more source

Regulatory Mismatch and Transboundary Governance of Migratory Game Birds: A Comparison of Poland and Germany. [PDF]

Environ Manage
Piórkowska K, Strączyński W, Jankowiak Ł, Polakowski M.   +3 more
europepmc   +1 more source