The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)
American 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
Turkish Translation, Cross-Cultural Adaptation, Validity, and Reliability of the Physical Activity and Social Support Scale (PASSS) in Physically Active Healthy Adults. [PDF]
Healthcare (Basel)Analay Akbaba Y +8 more
europepmc +1 more source
The Prevalence of Early Embryonic Mortality in the Broad Breasted Bronze Turkeys ,
, 1951 I.L. Kosin +2 more
openalex +1 more source
Parental Decision‐Making Following a Prenatal Diagnosis of Turner Syndrome: A Systematic Review
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT This systematic review investigates factors influencing parental decision‐making following a prenatal diagnosis (PND) of Turner syndrome (TS), aiming to enhance the foundation for tailored and supportive genetic counseling. A comprehensive literature search was conducted in the medical databases PubMed, Embase, and CINAHL.
Inger Lily Hjuler Dorf +2 more
wiley +1 more source
How narration could unfold oppression: insights from the experiences of the Kurds in access to Turkish healthcare services. [PDF]
Int J Equity HealthBayram T.
europepmc +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT It is evident that Turner syndrome (TS) impacts almost all developmental stages of the fetal heart with congenital heart disease (CHD) being seen in 23%–50% of individuals. Although the spectrum of CHDs in TS is well‐established, with left‐sided lesions predominating, the influence of specific karyotypes on the prevalence and types of CHDs ...
Francisco Álvarez‐Nava +5 more
wiley +1 more source
Turkish Neurological Society - Diagnostic Guidelines for Brain Death*
Türk Nöroloji Dergisi, 2014 Turkish Neurological Society
doaj
Assessment of cross-cultural adaptations and patient-reported outcome measures relevant to shoulder disorders in Turkish: A systematic review using the COSMIN methodology. [PDF]
PLoS OneIsiklar C, Sirma GC, Turgut E.
europepmc +1 more source
Daily Rhythm of Egg Production in Turkeys
, 1950 Karp L. Stockton, V.S. Asmundson
openalex +1 more source