Results 141 to 150 of about 4,480 (201)

Visualisation of cholesterol and ganglioside GM1 in zebrafish models of Niemann-Pick type C disease and Smith-Lemli-Opitz syndrome using light sheet microscopy. [PDF]

Histochem Cell Biol, 2020
Cook SR, Bladen C, Smith J, Maguire E, Copner J, Fenn GD, Wager K, Waller-Evans H, Lloyd-Evans E.   +8 more
europepmc   +1 more source

Sterol biosynthesis regulates TLR signaling and the innate immune response in a Smith-Lemli-Opitz syndrome model. [PDF]

J Clin Invest
Gabor K, Mesev EV, Madenspacher J, Meacham J, Rai P, Moon S, Wassif CA, Shaikh SR, Tucker CJ, Karmaus P, Bianconi S, Porter FD, Fessler MB.   +12 more
europepmc   +1 more source

Smith-Lemli-Opitz Syndrome with Biallelic c.1295A>G (p.Tyr432Cys) Variant in the DHCR7 Gene in a 73-Year-Old Woman: Report of the Oldest Patient. [PDF]

Mol Syndromol
Yılmaz M, Bebek O, Turkyilmaz A.
europepmc   +1 more source

Prenatal Nutritional High Fat Environment and the Evolving Concept of Intergenerational Cardio-Metabolic Disease Risk [PDF]

, 2016
Matata, Bashir M
core   +1 more source

[Smith-Lemli-Opitz syndrome].

Archivos argentinos de pediatria, 1971
J E, Iros, G H, Sanchez
openaire   +1 more source

Vitamin D levels in Smith-Lemli-Opitz syndrome. [PDF]

Am J Med Genet A, 2017
Movassaghi M, Bianconi S, Feinn R, Wassif CA, Porter FD.   +4 more
europepmc   +1 more source

Pulmonary vein stenosis in patients with Smith-Lemli-Opitz syndrome. [PDF]

Congenit Heart Dis, 2017
Prosnitz AR, Leopold J, Irons M, Jenkins K, Roberts AE.   +4 more
europepmc   +1 more source

Clinical and neuroimaging features as diagnostic guides in neonatal neurology diseases with cerebellar involvement [PDF]

core   +1 more source