Results 111 to 120 of about 2,855 (182)

Genome-wide absolute quantification of chromatin looping. [PDF]

Nat Struct Mol Biol
Jusuf JM, Yang JH, Toppen J, Grosse-Holz S, Gabriele M, Mach P, Flyamer IM, Zechner C, Giorgetti L, Mirny LA, Hansen AS.   +10 more
europepmc   +1 more source

Systematic Disruption of Zebrafish Fibrillin Genes Identifies a Translational Zebrafish Model for Marfan Syndrome. [PDF]

JACC Basic Transl Sci
De Rycke K, Horvat M, Caboor L, Vermassen P, De Smet G, Lobbestael S, Santana Silva M, Steyaert W, Van Impe M, Segers P, De Backer J, Sips P.   +11 more
europepmc   +1 more source

A Familial Thoracic Aortic and Arterial Aneurysm Syndrome Associated With FBN2 (Y1311C) and MYH11 (R34T) Variants: A Multigenerational Case Report. [PDF]

Cureus
Purvez A, Mir A, Bashir M.
europepmc   +1 more source

Integrated MINFLUX tracking reveals two distinct chromatin dynamics classes across cell types. [PDF]

Nat Struct Mol Biol
Mazzocca M, Narducci DN, Grosse-Holz S, Matthias J, Karpova TS, Hansen AS.   +5 more
europepmc   +1 more source

Conundrum resolved by optical genome mapping in a 46,XY girl with difference in sex development and skeletal anomalies. [PDF]

JCEM Case Rep
Daghsni M, Guo F, Forsyth R, Reyes-Múgica M, Yatsenko SA, Witchel SF.   +5 more
europepmc   +1 more source

Differential regulation of myopia progression by ON and OFF stimulation in guinea pigs. [PDF]

Eye Vis (Lond)
Xie Q, Dai Q, Zhu X, Chen X, Shen B, Fang Y, Li X, Lu F, Zhou X, Wang M.   +9 more
europepmc   +1 more source

Targeted Sequencing of Human Aorta Tissue Reveals Undiagnosed Heritable Thoracic Aortic Disease. [PDF]

Interdiscip Cardiovasc Thorac Surg
Lee H, Kim Y, Kim MS, Lee KA, Song SW.
europepmc   +1 more source

Thoracic aortic aneurysm combined with intracranial vascular abnormalities caused by dual mutations in <i>MYLK</i> and <i>FBN2</i>: a case report. [PDF]

Front Genet
Cai M, Liu Y, Liao Z, Wu Y, Jiao J.
europepmc   +1 more source

Comprehensive in silico analysis of genetic landscape and pathways involved in Stickler syndrome. [PDF]

PLoS One
Sharma R, Yadav K, Gupta V, Arora A, Yadav V.   +4 more
europepmc   +1 more source

Spontaneous spinal CSF leaks: a rare variant exome sequencing study and functional analysis.

Lancet Neurol
Parks CA, Singh M, Wohler E, Martin R, Peeters S, Juzwiak EE, Sun X, Loeys BL, Sobreira N, Baldock C, Schievink WI, Dietz HC.   +11 more
europepmc   +1 more source