Results 181 to 190 of about 968,479 (311)

Lenticulostriate vasculopathy in neonates: An imaging marker with heterogeneous clinical significance. [PDF]

Radiol Case Rep
El Azouzi M, Belkouchi L, El Haddad S, Allali N, Chat L.   +4 more
europepmc   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Clinical epidemiology of easily recognisable congenital malformations in Gambian newborns: a descriptive cohort study embedded in a clinical trial. [PDF]

BMC Pregnancy Childbirth
Graves S, Beloum N, Camara B, Nakakana UN, Danso M, Sillah F, Jones JC, Sabally E, Badjie S, Jarra O, Bah S, Suso A, Ndure E, Njie Y, Bottomley C, Tinto H, D'Alessandro U, Brotherton H, Roca A.   +18 more
europepmc   +1 more source

Understanding Arthrogryposis Multiplex Congenita (AMC) Across the Lifespan: An Integrative Review of the Adult AMC Registry's Contributions With Lived Experience Partnerships

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This reflective essay explores how collaborative work between researchers and adults living with Arthrogryposis Multiplex Congenita (AMC) has deepened and broadened our understanding of what it means to live with this rare condition. By intentionally integrating the lived experiences of individuals with AMC into research processes, the ...
Bonita J. Sawatzky, Megan K. MacGillivray, Tracey Schalk, William Bennett Mortenson   +3 more
wiley   +1 more source

Delayed diagnosis of congenital pulmonary airway malformation in an infant: diagnostic challenges and surgical implications. [PDF]

J Surg Case Rep
Srewell N, Chouman Y, Sharief Y, Meqdad MB, Hamzeh Rafea M, Alsalama O, Alsahan B, Abdulkader M, Ali S.   +8 more
europepmc   +1 more source

Congenital Hypoproconvertinemia.

Experimental Biology and Medicine, 1953
J H, LEWIS, J W, FRESH, J H, FERGUSON
openaire   +2 more sources

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

MULTIMODAL IMAGING OF BENIGN LOBULAR INNER NUCLEAR LAYER PROLIFERATIONS. [PDF]

Retin Cases Brief Rep
Hegde S, Kudlu K, Khan HA.
europepmc   +1 more source

Early Endoscopic Repair of Traumatic Skull Base Dural Injuries: Challenging the Dogma of Conservative Management

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Introduction Traditional management of traumatic skull base dural injury has often favored observation and conservative therapy, despite the risk of delayed intracranial complications. This paradigm originated when operative intervention required craniotomy and carried significant morbidity.
Jessica W. Grayson, Madeline P. Bald, Lauren McLeod, Adam J. Skelton, Nicolaus D. Knight, Do‐Yeon Cho, Justin Turner, Hari Jeyarajan, Kristen O. Riley, Bradford A. Woodworth   +9 more
wiley   +1 more source

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

Annals of Neurology, EarlyView.
Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate, Romain Duval, Marina Konyukh, Alessandro Bertini, Ayse Candayan, Albena Jordanova, Theresa Brunet, Wolfgang Müller‐Felber, Helena F. Pernice, Katrin Hahn, Nadja Ehmke, Juliane Beuschlein, Bertrand Isidor, Benjamin Cogné, Yann Péréon, Annabelle Chaussenot, John Rendu, Aysylu Murtazina, Dmitrii Subbotin, Artem Borovikov, Andrey Marakhonov, Chiara Pisciotta, Paola Saveri, Daniele Cazzato, Lucie Lemeray, Bérengère Koehl, Jean‐Madeleine de Sainte‐Agathe, Stefano Facchini, Ilaria Quartesan, Andrea Cortese, Yesim Parman, Arman Cakar, Davide Pareyson, Slim Azouzi, Tanya Stojkovic   +34 more
wiley   +1 more source