Results 241 to 250 of about 40,694 (303)

Human CNTNAP1 Variants Associated With Severe Neurological Deficits: Additional Cases and Literature Review

Muscle &Nerve, Volume 73, Issue 4, Page 517-526, April 2026.
ABSTRACT CNTNAP1 encodes the Contactin‐Associated Protein 1 (CNTNAP1), also known as Caspr1, which is a transmembrane protein critical for nervous system function. CNTNAP1 is localized to the paranodal regions of all myelinated axons, flanking either side of the node of Ranvier.
Lacey B. Sell, Derek Garcia, Alexandra Hollá, Ilana Chilton, Seth DeVries, Ana María Gómez‐Moreno, Manuel Lubián‐Gutiérrez, Qian Shi, Manzoor A. Bhat   +8 more
wiley   +1 more source

Challenges in Balancing Hemostasis and Thrombosis in Therapy Tailoring for Hemophilia: A Narrative Review. [PDF]

Int J Mol Sci
Kenet G, Levy-Mendelovich S, Livnat T, Brenner B.   +3 more
europepmc   +1 more source

Mechanical ventilation in a case of anticoagulant rodenticide toxicity: a case report. [PDF]

Front Vet Sci
Carter D, Southern CJ.
europepmc   +1 more source

Comparative Study on the Effect of Vitamin D Deficiency on Platelet Indices in COVID-19 and Hepatitis C Patients; an Observational Comparative Study. [PDF]

Health Sci Rep
Motaghi M, Ghaffari K, Mansori M, Ghasemi A.   +3 more
europepmc   +1 more source

Evaluation of salivary bone turnover markers and vitamin D as non-invasive, early predictive indicators of bone health in pre-, peri-, and post-menopausal women. [PDF]

BMC Womens Health
Mathangi R, Babu NA, Reshma A, Shankar K, Masthan KMK.   +4 more
europepmc   +1 more source

Congenital factor XIII deficiency caused by F13A1 gene mutations presenting with intracranial hemorrhage: a case report. [PDF]

Front Pediatr
Wang H, Yang R, Li J.
europepmc   +1 more source

Trends in Vitamin K Administration Among Infants. [PDF]

JAMA
Scott K, Miller E, Culhane JF, Greenspan J, Handley SC, Lo JY, Knake LA, McKenney KM, Burris HH, Dysart K.   +9 more
europepmc   +1 more source