Results 111 to 120 of about 187,967 (248)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source
BJS (British Journal of Surgery), EarlyView., 2020 This study investigated postoperative complications after surgery for medullary thyroid carcinoma (MTC) in Europe. Hypoparathyroidism, recurrent laryngeal nerve palsy and bleeding requiring reoperation occurred in 170 (26·2 per cent), 62 (13·7 per cent) and 17 (2·6 per cent) patients respectively.
D.‐J. van Beek +18 more
wiley +1 more source
Dental Infection Causing Methicillin-Resistant Staphylococcus aureus Bacteremia and Spinal Infection: A Case Report. [PDF]
Cureus, 2023 Munoz NR +3 more
europepmc +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr +7 more
wiley +1 more source
Spinal Infection Due to Enterococcus faecalis as the First Manifestation of Colorectal Cancer. [PDF]
Cureus, 2023 Manoku E +4 more
europepmc +1 more source
Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll +2 more
wiley +1 more source
Safety and feasibility of outpatient parenteral antimicrobial therapy for patients with spinal infection. [PDF]
Sci Rep, 2023 Kilinc F +9 more
europepmc +1 more source
Research progress on biomarkers of traumatic brain injury
Animal Models and Experimental Medicine, EarlyView.Traumatic brain injury: From primary insult to secondary neuroinflammation and degeneration. Abstract Traumatic brain injury (TBI) is a common disorder of the nervous system and has become a leading cause of death and disability worldwide, imposing a substantial burden on patients and their social circles. Its main symptoms include dyskinesia, language
Xuting Shen +8 more
wiley +1 more source
Spinal infection caused by <i>Coxiella burnetii</i> and surgical treatments: a case report. [PDF]
Front Med (Lausanne)Zhai X, Pan H, Zheng J.
europepmc +1 more source