Results 121 to 130 of about 3,094 (152)

Threads of Elasticity: A Single Variant Journey Through Pseudoxanthoma Elasticum's Clinical Maze. [PDF]

Cureus
Nagarajan DR, Mani Jacob D, Kakade S.
europepmc   +1 more source

Improved specificity and efficiency of in vivo adenine base editing therapies with hybrid guide RNAs. [PDF]

Nat Biomed Eng
Whittaker MN, Testa LC, Quigley A, Brooks DL, Grandinette SA, Said H, Dwivedi G, Jindal I, Volpp D, Hacker JL, Qu P, Wang JZ, Levine MA, Ahrens-Nicklas RC, Li Q, Musunuru K, Alameh MG, Peranteau WH, Wang X.   +18 more
europepmc   +1 more source

Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China. [PDF]

Pathophysiology
Lang GT, Weng XL, Liu Y, Hu X, Shao ZM, Hu Z.   +5 more
europepmc   +1 more source

Long-term survival and phenotypic expansion in siblings with generalized arterial calcification of infancy. [PDF]

JCEM Case Rep
Resnick O, Ashraf A.
europepmc   +1 more source

Genetic elastic fiber disorders as neurovascular syndromes: An emerging perspective. [PDF]

Neural Regen Res
Jiménez-Altayó F.
europepmc   +1 more source

Early pharmacological blockade of the CXCL12-CXCR4 axis attenuates vertebral hypercalcification in a zebrafish model of pseudoxanthoma elasticum. [PDF]

Biochem Biophys Rep
Sun J, Huang J, Zhang R, Zhang S, Zhong TP, Zhu P.   +5 more
europepmc   +1 more source

Case Report: Early infantile drug-resistant epilepsy and gastrointestinal dysmotility associated with a <i>de novo GNAO1</i> variant and a 16p13.11 microdeletion. [PDF]

Front Pediatr
Liu X, Luo R, Wang J, Chen X, Deng Y.
europepmc   +1 more source

A male patient with pseudoxanthoma elasticum caused by isodisomy of chromosome 16 containing a nonsense variant of the <i>ABCC6</i> gene: A quarter-century treatment experience. [PDF]

Atheroscler Plus
Wakasa M, Nakagawa C, Takamura TA, Fujibayashi K, Akao H, Kitayama M, Shimizu A, Niida Y, Kajinami K.   +8 more
europepmc   +1 more source

Dissecting Missing Heritability in Rare Inherited Macular Dystrophies. [PDF]

Genes (Basel)
Harford D, Conway M, Moran B, Zhu J, Turner J, Dockery A, O'Byrne JJ, Flitcroft DI, Burke T, Stephenson KAJ, Farrar GJ, Keegan DJ.   +11 more
europepmc   +1 more source