Results 61 to 70 of about 2,108 (140)

Smith-Lemli-Opitz Syndrome [PDF]

, 2020
openaire   +3 more sources

Serum Vitamin A and Vitamin E Levels in Individuals With Smith-Lemli-Opitz Syndrome. [PDF]

Am J Med Genet A
Bowman GR, Rahhal SN, Porter FD.
europepmc   +1 more source

Smith-Lemli-Opitz Syndrome (SLOS)-Case Description and the Impact of Therapeutic Interventions on Psychomotor Development. [PDF]

J Clin Med
Kozera N, Śmigiel R, Rozensztrauch A.
europepmc   +1 more source

Temporal transcriptomic changes during neurodevelopment in a mouse model of Smith-Lemli-Opitz syndrome. [PDF]

J Steroid Biochem Mol Biol
Li A, Tomita H, Xu L.
europepmc   +1 more source

Carrier frequency and incidence estimation of Smith-Lemli-Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis. [PDF]

Orphanet J Rare Dis, 2021
Park JE, Lee T, Ha K, Ki CS.
europepmc   +1 more source

Extremely variable expressivity in Smith-Lemli-Opitz syndrome: Review of 4 cases

Anales de Pediatría (English Edition), 2022
María José Sánchez-Soler, Ana Teresa Serrano-Antón, Vanesa López-González, María Juliana Ballesta-Martínez, Encarna Guillén-Navarro   +4 more
doaj   +1 more source

Altered Cerebrospinal Fluid Proteins in Smith-Lemli-Opitz Syndrome. [PDF]

J Proteome Res
Li W, Pergande MR, Serna-Perez F, Patel V, Crutchfield CA, Searle BC, Picache JA, Farhat NM, Wassif CA, Backlund PS, Bianconi S, Pacak K, Freel BA, Francis KR, Porter FD, Cologna SM.   +15 more
europepmc   +1 more source

Prevalence of Smith-Lemli-Opitz Syndrome Carriers and the Spectrum of <i>DHCR7</i> Pathogenic Variants in Representative Czech and Hungarian Population Cohorts. [PDF]

Genes (Basel)
Kovács E, Szűcs Z, Horňák M, Kubíček D, Weisová K, Veselá K, Krůzová L, Geryk J, Diblík J, Bittóová M, Macek M, Balogh I, Koczok K.   +12 more
europepmc   +1 more source

Cross-sectional analysis of expressive and receptive language skills in Smith-Lemli-Opitz syndrome (SLOS). [PDF]

J Rare Dis (Berlin)
Morris SM, Tierney E.
europepmc   +1 more source

Use of cholic acid in Smith-Lemli-Opitz syndrome (SLOS): real-world patient outcomes. [PDF]

Orphanet J Rare Dis
Ferren E, Hillman PR, Kritzer A, Ray J, Serrano A, Northrup H, Roberts P, Dutta R, Pramparo T, Vig P, Steiner RD.   +10 more
europepmc   +1 more source