Results 1 to 10 of about 4,684 (195)

Carrier rates for recessive monogenic diseases in the Chinese Han population: a systematic review. [PDF]

Hum Genomics
Xia Y, Ma Y.
europepmc   +1 more source

Advances in mucopolysaccharidosis research: the impact of mass spectrometry-based approaches. [PDF]

Clin Proteomics
Ramarajan MG, Garapati K, Ghose V, Pandey A.   +3 more
europepmc   +1 more source

Alzheimer's Tau seeds-induced pathology enhances hippocampal extracellular diffusion. [PDF]

Commun Biol
Estaún-Panzano J, Lovisotto A, Mazzocco C, Piva C, Darricau M, Calaresu I, Gresil Q, Planche V, Dehay B, Groc L, Cognet L, Bezard E.   +11 more
europepmc   +1 more source

Submicroscopic 16q24.2-q24.3 deletion in a family with nonsyndromic short stature. [PDF]

Hum Genome Var
Narita C, Utsunomiya H, Hamada J, Kageyama I, Fukami M, Nakamura A.   +5 more
europepmc   +1 more source

Clinical expert opinion on the role of elosulfase alfa in non-ambulatory individuals with Morquio A syndrome. [PDF]

Mol Genet Metab Rep
de Souza CFM, Burton BK, Campeau PM, Giugliani R, Guffon N, Lampe C, Muschol N, Sivri S, Solano M, Stepien KM.   +9 more
europepmc   +1 more source

Insight Into Body Size Evolution in Aves: Based on Some Body Size-Related Genes. [PDF]

Integr Zool
Luo C, Xu X, Zhao C, Wang Q, Wang R, Lang D, Zhang J, Hu W, Mu Y.   +8 more
europepmc   +1 more source

Craniovertebral Junction Compression in Patients With Morquio Syndrome: Case Series and Literature Review. [PDF]

Cureus
Rakshit P, Sadayandi Ramesh A, Gopikrishnan R, Mani MK, Sathia Prabhu A.   +4 more
europepmc   +1 more source

CRISPR/Cas9 technology in the modeling of and treatment of mucopolysaccharidosis. [PDF]

Biochem Biophys Rep
Reyhani-Ardabili M, Ghafouri-Fard S.
europepmc   +1 more source

Investigation of GALNS variants and genotype–phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA

Journal of Inherited Metabolic Disease, 2022
Mengni Yi, Xiaolan Gao, Lianshu Han
exaly