Results 101 to 110 of about 1,552 (162)

Extravascular implantable cardioverter-defibrillator therapy in patients with genetic heart disease: An early single-center experience. [PDF]

Heart Rhythm O2
Coderre R, Castrichini M, Haq I, Lopes Neves RA, Bos JM, Cha YM, Friedman PA, Mulpuru SK, Sugrue AM, Ackerman MJ, Giudicessi JR.   +10 more
europepmc   +1 more source

Prominent Movement Disorders in RNU2-2-Related Spliceosomopathy. [PDF]

Ann Clin Transl Neurol
Krygier M, Sorrentino U, Wagner M, Zawadzka M, Lemska A, Mazurkiewicz-Bełdzińska M, Zech M.   +6 more
europepmc   +1 more source

HeartMate 3 Left Ventricular Assist Device Implantation in a Pediatric Patient With Limb-Girdle Muscular Dystrophy. [PDF]

Ochsner J
Zumwalt CM, Boucek K, Wells DA.
europepmc   +1 more source

Efficacy of tranilast in preventing exacerbating cardiac function and death from heart failure in muscular dystrophy patients with advanced-stage heart failure: a single-arm, open-label, multicenter study. [PDF]

Orphanet J Rare Dis
Matsumura T, Fukudome T, Motoyoshi Y, Nakamura A, Kuru S, Segawa K, Kitao R, Watanabe C, Tamura T, Takahashi T, Hashimoto H, Sekimizu M, Saito AM, Asakura M, Kimura K, Iwata Y.   +15 more
europepmc   +1 more source

One-pot enzymatic synthesis of the sugar nucleotide CDP-ribitol. [PDF]

RSC Chem Biol
Akkad S, Wan EW, Maddison A, Mcloughlin JR, Au-Yeung C, Murphy LD, McNeil GL, Willems LI.   +7 more
europepmc   +1 more source

Novel four-exon deletion in ryanodine receptor gene (RYR2) associated with mixed electric and structural cardiac phenotype. [PDF]

Europace
Stribna T, Peldova P, Vosecka T, Roubicek T, Kubanek M, Cihak R, Peichl P, Kautzner J, Macek M, Krebsova A.   +9 more
europepmc   +1 more source

Fetal Presentation of Walker-Warburg Syndrome With a Novel POMT1 Splice-Altering Variant: Antenatal Imaging, Postmortem MRI, Autopsy, and Molecular Correlation. [PDF]

Clin Case Rep
Zhang J, Wang P, Tian G, Hu Y, Zhang X, Huang X, Zhou X, Huang P, Chen F.   +8 more
europepmc   +1 more source

Poretti-Boltshauser Syndrome in a Toddler: Novel Neuroimaging Features and Clinical Presentation. [PDF]

Cureus
Radder S, Radder N.
europepmc   +1 more source

Sublingual methylcobalamin treatment in infants with prolonged jaundice due to vitamin B12 deficiency. [PDF]

Front Pediatr
Aydin S, Oz A, Turkmen H, Altin H.
europepmc   +1 more source

LGMD R18 Mimicking Wilson Disease: 6-Year Longitudinal Muscle MRI Evolution and Clinical Insights into <i>TRAPPC11</i> Mutation. [PDF]

Diagnostics (Basel)
Chou YT, Chou HP, Chen YW.
europepmc   +1 more source