Exome sequencing identifies novel and known mutations in families with intellectual disability. [PDF]
BMC Med Genomics, 2021 Rasheed M +8 more
europepmc +1 more source
Inclusion body myositis: pathomechanism and lessons from genetics [PDF]
, 2017 Bodoki, Levente +8 more
core
Recommendations for the development of rare disease drugs using the accelerated approval pathway and for qualifying biomarkers as primary endpoints [PDF]
, 2015 core +1 more source
Cycle conjectures and birational invariants over finite fields
We study a natural birational invariant for varieties over finite fields and show that its vanishing on projective space is equivalent to the Tate conjecture, the Beilinson conjecture, and the Grothendieck--Serre semi-simplicity conjecture for all smooth
Balkan, Samet, Schreieder, Stefan
core
Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion. [PDF]
Muscle Nerve, 2019 Chakravorty S +10 more
europepmc +1 more source
Decoding GNE Myopathy: From Molecular Basis to Therapeutic Advances. [PDF]
Ann Indian Acad NeurolYoshioka W, Noguchi S, Nishino I.
europepmc +1 more source
Les caractères analytiques distinctifs des matériaux des nids du genre Macrotermes au Sénégal Occidental : leurs rapports avec les sols [PDF]
, 1977 Leprun, Jean-Claude, Roy-Noël, J.
core
Analysis of the pathogenicity of novel GNE mutations and clinical, pathological, and genetic characteristics of GNE myopathy in Chinese population. [PDF]
Orphanet J Rare DisXing Y +9 more
europepmc +1 more source
Sialic acid expression in human fetal skeletal muscle during limb early myogenesis. [PDF]
, 2017 Donata, Zappoli Thyrion Giorgia +4 more
core +1 more source