Results 101 to 110 of about 1,386 (148)

Phenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical Diagnosis. [PDF]

Genes (Basel)
Kulyamzin S, Leibu R, Newman H, Ehrenberg M, Goldenberg-Cohen N, Zayit-Soudry S, Mezer E, Rotenstreich Y, Deitch I, Panneman DM, Zur D, Chervinsky E, Shalev SA, Cremers FPM, Sharon D, Roosing S, Ben-Yosef T.   +16 more
europepmc   +1 more source

Polyunsaturated fatty acid metabolism in the retinal pigment epithelium and its association with outer retinal disease. [PDF]

Mamm Genome
Rayana NP, Gogna N, Krebs MP, Collin GB, Naggert JK, Nishina PM.   +5 more
europepmc   +1 more source

Protein function prediction using GO similarity-based heterogeneous network propagation. [PDF]

Sci Rep
Hu S, Zhao B.
europepmc   +1 more source

PEX6-Associated Heimler Syndrome 2 Presenting with Bernard–Soulier Syndrome

Indian Pediatrics
Mansi Agrawal, Akshay Kamle, Mridula Jain, Prachi Chaudhary, Preeti Malpani   +4 more
openaire   +1 more source

ERC2.0 evolutionary rate covariation update improves inference of functional interactions across large phylogenies. [PDF]

Genome Res
Little JH, Meyer GH, Grover A, Francette AM, Partha R, Arndt KM, Smith M, Clark N, Chikina M.   +8 more
europepmc   +1 more source

Bioinformatics Analysis of Peroxisomal Biogenesis Factor Proteins in Breast Malignancy for Introducing Potential Prognostic Biomarkers. [PDF]

Iran J Pathol
Mahdei Nasirmahalleh N, Hemmati M, Parsamanesh N.   +2 more
europepmc   +1 more source

Jalili syndrome: Sibling cases with variable phenotypes. [PDF]

Indian J Ophthalmol
Sharda S, Bharti N.
europepmc   +1 more source

Correction. [PDF]

Virulence
europepmc   +1 more source

6-Methoxyflavone targets SLC1A5 to induce ferroptosis in HeLa cells. [PDF]

PLoS One
Zhang C, Chen L.
europepmc   +1 more source

Not "just a VUS". [PDF]

Genet Med Open
Tise CG, Adelson SM, Garrity EB, Bonner DE.   +3 more
europepmc   +1 more source