Results 171 to 180 of about 419,067 (303)

Molecular diagnosis of rare biallelic CDC45 gene variants causing Meier-Gorlin syndrome-7 using whole exome sequencing. [PDF]

Hum Genomics
Zhuang J, Huang N, Wang J, Chen C.
europepmc   +1 more source

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source

Double trouble in pregnancy: Complete hydatidiform mole coexisting with a live fetus and maternal crisis: A case report and comprehensive literature review. [PDF]

Radiol Case Rep
Fayisa S, Ahmed B, Abrar F, Chemeda LA, Mechessa MA.   +4 more
europepmc   +1 more source

Twin pregnancy of a complete hydatidform mole and a co-existent fetus: A very rare case report [PDF]

, 2013
Besharat, M., Tabandeh, A.
core   +1 more source

In‐Depth Profiling Highlights the Effect of Efgartigimod on Peripheral Innate and Adaptive Immune Cells in Myasthenia Gravis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Myasthenia gravis (MG) is an autoimmune disorder characterized by antibody‐mediated complement activation. Efgartigimod, a neonatal Fc receptor (FcRn) antagonist, is approved for treating generalized MG (gMG). However, its modulatory effects on upstream innate and adaptive immune cells remain largely unexplored.
Lei Jin, Liu Dong, Ying Wang, Dingxian He, Chong Yan, Jianying Xi, Haoqin Jiang, Yu Shi, Ming Guan, Chongbo Zhao, Jie Song, Sushan Luo   +11 more
wiley   +1 more source

TFE3-expressing perivascular epithelioid-cell tumor of the kidney and retroperitoneum: Report of a rare case

Asian Journal of Surgery
Lin Li, Caihong Chang, Xian Zhang, Jiaqi Zhang   +3 more
doaj   +1 more source

Evaluation and management of DMD gene copy number variations detected by prenatal SNP-array testing. [PDF]

BMC Med Genomics
Hu J, Pang J, Hu R, Zhou L, Yu W, Xi H, Luo Y, Yang S, Tang W, Hu A, Chen J, Peng Y.   +11 more
europepmc   +1 more source

Prenatal Diagnosis and Selective Abortion [PDF]

, 1973
Lebacqz, Karen A.
core   +1 more source

Linacre Institute Paper: Moral and Medical Considerations in the Management of Extrauterine Pregnancy [PDF]

, 1999
Diamond, Eugene F.
core   +2 more sources

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron, Nicholas E. Clifton, Daniel Cabezas de la Fuente, Peter Holmans, Nicholas J. Bray, Kathryn J. Peall   +5 more
wiley   +1 more source