Results 121 to 130 of about 2,517,817 (182)

Wolfram syndrome and diabetes mellitus in Aotearoa, New Zealand: Phenotype and response to GLP-1 receptor agonist therapy. [PDF]

Diabet Med
L'Amie A, Vincent AL, Jefferies CA, Braatvedt G, Wiltshire E, Mouat F, Albert BB, Murphy R.   +7 more
europepmc   +1 more source

Hypotheses on physiopathogenic mechanisms of fecal incontinence in Wolfram syndrome. [PDF]

IBRO Neurosci Rep
Orssaud C.
europepmc   +1 more source

Natural history of 15 patients with autosomal dominant WFS1 pathogenic variants associated with sensorineural hearing loss and optic atrophy. [PDF]

Orphanet J Rare Dis
Roberts JP, Tang AF, Hernandez D, Carman B, Oiknine L, Brown C, Hurst S, Tang Y, Urano F.   +8 more
europepmc   +1 more source

Expanding the phenotype of Wolfram syndrome: adult presentation with a novel <i>WFS1</i> variant. [PDF]

JCEM Case Rep
Mehrotra P, Vengadakrishnan, Dubey N.
europepmc   +1 more source

Spinal anesthesia for urgent cesarean section in a parturient with RYR1 mutation-associated malignant hyperthermia susceptibility: a case report. [PDF]

Matern Health Neonatol Perinatol
Abaalkhayl M.
europepmc   +1 more source

The AudioGene Translational Dashboard for Diagnosing Autosomal Dominant Nonsyndromic Hearing Loss: Phenotypic Data Visualization and Analysis Study. [PDF]

JMIR Bioinform Biotechnol
DeSollar B, Schaefer N, Walls D, Odell AM, Booth KTA, Azaiez H, Schnieders M, Smith RJH, Braun T, Casavant T.   +9 more
europepmc   +1 more source

rs10010131A in <i>WFS1</i> is Associated with Elevated Serum Urea in Type 2 Diabetes Patients Treated with SGLT2 Inhibitors. [PDF]

Ther Clin Risk Manag
Naja K, Elashi AA, Hedaya L, Anwardeen NR, Al-Shafai M, Rizzo M, Elrayess MA.   +6 more
europepmc   +1 more source

Identification of alternative splicing in WFS1 associated with low-frequency hearing loss in the common marmoset. [PDF]

HGG Adv
Yokota S, Yoshimura H, Nishio SY, Sasaki E, Mukasa K, Usami SI, Takumi Y.   +6 more
europepmc   +1 more source

Integrative genetic and functional analysis of autosomal dominant hearing loss in 108 multigenerational families. [PDF]

J Mol Med (Berl)
Oziębło D, Leja ML, Gan N, Bałdyga N, Toliat MR, Budde BS, Skarżyński H, Ołdak M.   +7 more
europepmc   +1 more source

<i>N</i>-propargylputrescine as a minimal-tag probe for imaging putrescine dynamics in cellular homeostasis and stress. [PDF]

iScience
Owczarek A, Duchnowska A, Sas Z, Zakrzewski M, Florkowska A, Nalepa M, Skweres A, Suchożebski F, Mąka A, Szymanowski J, Michaluk P, Winiarska K, Cieśla M, Marusiak A, Serwa RA, Węgrzynowicz M.   +15 more
europepmc   +1 more source