Results 181 to 190 of about 127,062 (232)

Clinical Insights Into Nabais Sá‐De Vries Syndrome due to a Novel SPOP Mutation: Neuromotor, Cognitive, Adaptive, Behavioral, and Neurovisual Features

American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT Nabais Sá‐De Vries syndrome (NSDVS) is an extremely rare autosomal dominant disorder caused by SPOP mutations. To date, only 10 cases have been described presenting with intellectual disability, neurological signs and symptoms, and a variable association of dysmorphic features.
Jessica Galli, Erika Loi, Federica Zanardini, Giovanna Baldoni, Francesca Novara, Serena Panigada, Roberto Ciccone, Maria Rosa Cutrì, Alice Bertoletti, Lorenzo Pinelli, Elisa Fazzi   +10 more
wiley   +1 more source

Inactivated Split MERS-CoV Antigen Prevents Lethal Middle East Respiratory Syndrome Coronavirus Infections in Mice. [PDF]

Vaccines (Basel)
Seo H, Jang Y, Kwak D.
europepmc   +1 more source

International Expert Opinion on Standard of Care for Patients With Schinzel‐Giedion Syndrome: A Modified Delphi Study

American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT Schinzel‐Giedion Syndrome (SGS) is an ultra‐rare, multisystem, genetic developmental disorder caused by gain‐of‐function pathogenic variants in the SETBP1 gene. No standard of care (SoC) recommendations currently exist. To assess expert opinion on SoC for individuals with SGS using a modified Delphi method.
Jessica Duis, Laura Agresta, William E. Bennett Jr, Henry Chambers, Antonia Clarke, Charlie Fairhurst, Julie Hoover‐Fong, Feilim Murphy, Garey Noritz, Scott Schwantes, Michael Shreve, Kabelo Thusang, Darcy Weidemann, Rebecca Beale, Aditi Mehta, Andrew Wilhelmsen, Nuala Summerfield   +16 more
wiley   +1 more source

An in silico approach to develop potential therapies against Middle East Respiratory Syndrome Coronavirus (MERS-CoV). [PDF]

Heliyon
Biswas S, Mita MA, Afrose S, Hasan MR, Shimu MSS, Zaman S, Saleh MA.   +6 more
europepmc   +1 more source

Vaccine for Middle East respiratory syndrome [PDF]

Nature Reviews Drug Discovery, 2015
openaire   +3 more sources

Sutureless Abdominal Closure in Monozygotic Twin With Gastroschisis: A Case Report From Muhimbili National Hospital, Tanzania

Clinical Case Reports, Volume 13, Issue 6, June 2025.
ABSTRACT Twin gastroschisis pregnancies poses challenges in prenatal diagnosis especially for multiple pregnancies among radiologists, and therefore impacts postnatal care by neonatologists and pediatric surgeons. This case emphasizes the successful management of twin babies born with gastroschisis, highligting the role of sutureless abdominal closure ...
Rajabu Athumani Bakari, Alfred Chibwae, Rajab Siaba Msemo, William W. Kahabi, Caroline S. Kanuti, Salma J. Ali, Godfrey Sama Philipo, Zaitun M. Bokhary, Judith Lindert, Kokila Lakhoo   +9 more
wiley   +1 more source

Interleukin 13-Induced Inflammation Increases DPP4 Abundance but Does Not Enhance Middle East Respiratory Syndrome Coronavirus Replication in Airway Epithelia. [PDF]

J Infect Dis
Li K, Bartlett JA, Wohlford-Lenane CL, Xue B, Thurman AL, Gallagher TM, Pezzulo AA, McCray PB.   +7 more
europepmc   +1 more source

Novel Middle East respiratory syndrome coronavirus

Journal of the Formosan Medical Association, 2014
openaire   +4 more sources

Echis carinatus Snakebite, a Rare Fatal Envenomation Incident in a Young Pakistani Boy: Case Report

Clinical Case Reports, Volume 13, Issue 6, June 2025.
ABSTRACT Prompt identification and aggressive intervention in Echis carinatus envenomation are paramount to avert life‐threatening complications such as venom‐induced consumptive coagulopathy (VICC), acute renal failure (ARF), and necrotizing fasciitis.
Farina Fatima Siddiqui, Aisha Rehman Siddiqui, Kundan Kumar Maheshwari, Khizer Mehmood, Jaint Kumar, Noor‐Us‐Sahar Siddiqui, Muhammad Momin Khan, Sania Javed, Alaa Jlailati   +8 more
wiley   +1 more source

Severe neurologic syndrome associated with Middle East respiratory syndrome corona virus (MERS-CoV) [PDF]

, 2015
A. Bouchama, A. H. Hajeer, A. Harthi, A. Saedy, A. Wahbi, B. T. Saeed, H. Balkhy, J. Hussein, M. Sadat, R. Okaili, S. Johani, T. AlDabbagh, Y. M. Arabi   +12 more
core   +1 more source