A Novel PGK1 Gene Variant with Neurological Dysfunction, Haemolytic Anaemia and Myopathy: A Case Report from India. [PDF]
Ann Indian Acad Neurol, 2023 Prabhu SM, Banerjee B, Shetty M.
europepmc +1 more source
A tribute to Terri Grodzicker from an admirer. [PDF]
Genes Dev, 2023 Fuchs E.
europepmc +1 more source
The c.1243T>C mutation in the PROC gene is linked with inherited protein C deficiency and severe purpura fulminans. [PDF]
Clin Case Rep, 2023 Nourbakhsh SMK +5 more
europepmc +1 more source
, 2019 This technical note provides some general considerations on the geophysical requirements of the Harmony L2 Ocean products and their implications to the mission requirements.
Johnsen, Harald
core
Innovations in topical epidermolysis bullosa treatment: integrating advanced dressings, bioactive therapies and tissue-engineered skin. [PDF]
DaruMarwah MK, Kaur K, Ahmad S, Cheema HCK.
europepmc +1 more source
Integrated Prosthodontic Approach for Ectodermal Dysplasia: Tooth-Supported Overdenture and Implant-Supported Hybrid Prosthesis. [PDF]
CureusSaini A +4 more
europepmc +1 more source
Recognition of fold- and function-specific sites in the ligand-binding domain of the thyroid hormone receptor-like family. [PDF]
Front Endocrinol (Lausanne), 2022 Verma S +6 more
europepmc +1 more source
Exploring the Potential of Scales to Assess Different Types of Ataxia: Meta-review. [PDF]
CerebellumRacero-Ríos S +2 more
europepmc +1 more source
GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome. [PDF]
Am J Med Genet AMeiss LN +8 more
europepmc +1 more source
The association study of genetic variants with developing musical aptitude in humans. [PDF]
Vavilovskii Zhurnal Genet SelektsiiKazantseva AV +3 more
europepmc +1 more source