Results 171 to 180 of about 1,594,854 (292)

Pre-infection cerebral cortex structure predicts murine sepsis outcome. [PDF]

PLoS One
Gallant RM, Alam S, Venkataraman K, McKenna BS, Khairy K, Ayres JS.   +5 more
europepmc   +1 more source

Relative Exchangeable Copper Confirms Wilson Disease and Supports Reclassification of the ATP7B p.Met665Ile Variant With Conflicting Pathogenicity Evidence

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by ATP7B mutations. Diagnosis is usually straightforward in symptomatic patients, but can be challenging in children and adolescents with mild liver disease, borderline urinary copper excretion, or inconclusive genetic findings.
Emanuele Nicastro, Caterina Zuccoli, Roberto Marozzi, Antonino Barletta, Lisa Licini, Paola Tebaldi, Valeria Casotti, Mariangela Stinco, Lidia Pezzani, Maria Iascone, Lorenzo D'Antiga   +10 more
wiley   +1 more source

Development of GABAergic Interneurons in the Human Cerebral Cortex. [PDF]

Eur J Neurosci
Marín O.
europepmc   +1 more source

Automated manifold surgery: constructing geometrically accurate and topologically correct models of the human cerebral cortex

IEEE Transactions on Medical Imaging, 2001
B. Fischl, Arthur K. Liu, A. Dale
semanticscholar   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Mapping the microstructure of human cerebral cortex in vivo with diffusion MRI. [PDF]

Commun Biol
Sadikov A, Choi HL, Xiao J, Cai LT, Mukherjee P.   +4 more
europepmc   +1 more source

Receptive fields, binocular interaction and functional architecture in the cat's visual cortex

Journal of Physiology, 1962
D. Hubel, T. Wiesel
semanticscholar   +1 more source

Charting the spatial transcriptome of the human cerebral cortex at single-cell resolution. [PDF]

Nat Commun
Wei S, Luo M, Wang P, Chen R, Jin X, Xu C, Li C, Lin X, Xu Z, Liu H, Cheng R, Yang W, Cai Y, Xue G, Huang P, Liu Z, Sun H, Xu J, Jiang Q.   +18 more
europepmc   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Decoding chronic pain: the glutamate-GABA tug of war in the cerebral cortex. [PDF]

Front Mol Neurosci
Huang D, Dong YT, He LX, Zhou RZ, Zhou JX, Yang S, Yu SG.   +6 more
europepmc   +1 more source