Weekly Google Scholar Links [EDS/HSD] - 12/16/2019
Here are some of the interesting links send to my inbox thanks go Google Scholar alerts this week!
- Absence of lingual frenulum in children with Ehlers-Danlos Syndrome: a retrospective study of forty cases and literature review of a twenty years long debate. (2019)
- Autonomic and peripheral neuropathy with reduced intraepidermal nerve fiber density can be observed in patients with gastrointestinal dysmotility (Clinical Case Reports, 2019)
- Demographics and clinical characteristics of a national cohort of 280 patients with hypermobility syndrome and impact on their work disability (Rheumatology, 2019)
- Ehlers-Danlos syndrome: A rare disorder (Nursing Made Incredibly Easy!, Jan/Feb 2020)
- Genomic Analysis of 727 Patients with Ehlers-Danlos Syndrome I: Clinical Perspective Relates 23 Genes to a Maternally Influenced Arthritis-Adrenaline Disorder (Journal of Biosciences and Medicines, Dec 2019)
- Gleno-humeral abduction measurement in patients with Ehlers-Danlos syndrome (Orthopaedics & Traumatology: Surgery & Research, 2019)
- High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia (The Journal of Molecular Diagnostics, Sep 2019)
- Molecular mechanisms and clinical manifestations of rare genetic disorders associated with type I collagen (Intractable & Rare Diseases Research, 2019)
- Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers–Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix (Genetics in Medicine, 2019)
