Results 251 to 260 of about 332,290 (332)

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue   +16 more
wiley   +1 more source

Multiple imputations to study the association between childhood growth and early breast cancer [PDF]

open access: yes, 2003
de Stavola, BL   +5 more
core   +2 more sources

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods   +16 more
wiley   +1 more source

Methionine Hydroxy Analog (Free Acid) Reduces Avian Kidney Damage and Urolithiasis Induced by Excess Dietary Calcium

open access: bronze, 1989
R.F. Wideman   +4 more
openalex   +1 more source

The Role of SLC39A8.p.(Ala391Thr) in Schizophrenia Symptom Severity and Cognitive Ability: Cross‐Sectional Studies of Schizophrenia and the General UK Population

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The missense SNP NC_000004.12:g.102267552C>T (also known as SLC39A8.p.(Ala391Thr), rs13107325) in SLC39A8 encodes a zinc transporter. This SNP has been linked to schizophrenia and is the likely causal variant for one of the genome‐wide association loci associated with the disorder. Using regression analyses, we tested whether the schizophrenia‐
Sophie E. Smart   +12 more
wiley   +1 more source

Association between dietary calcium to Phosphorus Ratio and the odds of ulcerative colitis: A case-control study. [PDF]

open access: yesHeliyon
Tangestani H   +8 more
europepmc   +1 more source

The cumulative analgesic effect of repeated electroacupuncture is modulated by Adora3 in the SCDH of mice with neuropathic pain

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Neuropathic pain management via repeated electroacupuncture. Abstract Background Existing remedial approaches for relieving neuropathic pain (NPP) are challenging and open the way for alternative therapeutic measures such as electroacupuncture (EA). The mechanism underlying the antinociceptive effects of repeated EA sessions, particularly concerning ...
Faisal Ayub Kiani   +6 more
wiley   +1 more source

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