Results 151 to 160 of about 350,440 (325)

Congenital abnormalities of platelet membrane glycoproteins

open access: yesJournal of Associated Medical Sciences, 2010
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Preeyanat Vongchan
doaj  

Targeted Medical Therapies for Vascular Anomalies: A Clinical Review

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Vascular anomalies represent a broad spectrum of disorders characterized by aberrant blood or lymphatic vessel development, which can lead to complex clinical phenotypes. Historically, vascular anomalies were classified solely on the basis of their clinical and histopathologic features.
Whitney Eng
wiley   +1 more source

Co‐Opting MBNL‐Dependent Alternative Splicing Cassette Exons to Control Gene Therapy in Myotonic Dystrophy

open access: yesAnnals of Neurology, EarlyView.
Objective Myotonic dystrophy type 1 (DM1) is a highly variable, multisystemic genetic disorder caused by a CTG repeat expansion in the 3′ untranslated region of DMPK. Toxicity is exerted by repeat‐containing DMPK transcripts that sequester muscleblind‐like (MBNL) proteins and lead to deleterious yet predictable changes in alternative splicing.
Samuel T. Carrell   +3 more
wiley   +1 more source

Cardiovascular defects associated with abnormalities in midline development in the Loop-tail mouse mutant [PDF]

open access: yes, 2001
Anderson, RH   +6 more
core   +1 more source

Congenital abnormalities associated with Zika virus infection-Dengue as potential co-factor? A systematic review. [PDF]

open access: yesPLoS Negl Trop Dis, 2021
Petzold S   +7 more
europepmc   +1 more source

Giant Choledochal Cyst in a Child With Spinocerebellar Ataxia: A Potential Molecular Link Through Aberrant Cytosolic Calcium Signaling

open access: yes
American Journal of Medical Genetics Part A, EarlyView.
Hiromi Sumitomo   +3 more
wiley   +1 more source

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