Results 41 to 50 of about 42,982 (306)
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
, 2020 Retrospectively collected to analyze clinical outcomes related with sacrum tumor ...
Zhao, H
core +2 more sources
, 2018 Team Archeologie van de gemeente Arnhem heeft in de periode van 8 oktober 2015 tot en met 25 november 2015 een archeologische begeleiding uitgevoerd in het plangebied Musis Sacrum.
Smole, L.
core +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young +6 more
wiley +1 more source
Sensors, 2023 Optoelectronic motion capture systems are considered the gold standard for measuring walking and running kinematics parameters. However, these systems prerequisites are not feasible for practitioners as they entail a laboratory environment and time to ...
Emilio J. Ruiz-Malagón +4 more
doaj +1 more source
The Anatomical Record, EarlyView.Abstract Domesticated European rabbits (Oryctolagus cuniculus) have long been chosen as laboratory model organisms. Despite this, there has been no definitive study of the vertebral musculature of wild rabbits. Relevant descriptions of well‐studied veterinary model mammals (such as dogs) are generally applicable, but not appropriate for a species ...
Nuttakorn Taewcharoen +3 more
wiley +1 more source
Topografia dróg na „Wyspie”. Pielgrzymka duchowa w filmie Pawła Łungina
Kwartalnik Filmowy, 2019 Autorka artykułu proponuje spojrzenie na Wyspę Pawła Łungina w kategoriach filmu o drodze duchowej realizowanej jako wewnętrzna dyspozycja człowieka, niezależna od zewnętrznych okoliczności.
Katarzyna Kolman
doaj +1 more source
A Very Low-Positioned Aortic Bifurcation
Vascular Specialist International, 2020 Anomalies of the aortoiliac arteries are rarely reported and are generally discovered incidentally on imaging performed mostly for investigation of other medical concerns.
Jad A. Degheili +3 more
doaj +1 more source
NEUROFIBROMATOSIS PRESENTING WITH A LARGE MASS OVERLYING THE SACRUM A CASE FROM THE ARCHIVE OF A RETIRED ORTHOPEDIC SURGEON [PDF]
Basrah Journal of Surgery, 2018 NEUROFIBROMATOSIS PRESENTING WITH A LARGE MASS OVERLYING THE SACRUM A CASE FROM THE ARCHIVE OF A RETIRED ORTHOPEDIC SURGEON Hassan K Mohammed MB,ChB, FRCS (Eng), FRCS (Ed), Consultant Orthopedic Surgeon, Shefa Centre for Bone & Reconstructive Surgery,
Hassan K Mohammed
doaj +1 more source
A Case of Chronic Myeloid Leukemia Presenting with Osteoid Osteoma: A Diagnostic Dilemma
Asian Pacific Journal of Cancer Care, 2021 Chronic myeloid leukemia is a hematological malignancy resulting from a clonal proliferation of hematopoietic stem cells of the myeloid series. It is developed by chromosomal translocation.
Mannavi Suman +4 more
doaj +1 more source