Results 1 -
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47
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ADULT i BLOOD GROUP PHENOTYPE
- ... Puel A; International STAT1 Gain-of-Function Study Group. Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype. Blood. 2016 Jun 23;127(25):3154-64. doi: ...
- ... risk of developing metabolic syndrome, which is a group of conditions that ... people, adults with Klinefelter syndrome also have an increased risk ...
- ... risk for developing metabolic syndrome, which is a group of conditions ... affected adults experience pauses in breathing during sleep (sleep apnea). ...
- Arthritis by the Numbers: Book of Trusted Facts and Figures (Arthritis Foundation) - PDFScleroderma/Statistics and Research ... Scleroderma ... Osteoarthritis/Statistics and Research ... Osteoarthritis ... Gout/Statistics and Research ... Gout ... Juvenile Arthritis/Statistics ...
- The PRNP gene provides instructions for making a protein called prion protein (PrP), which is active in the brain and several other tissues. Although the ...
- ... Ayhan O, Gokcay G, Basbogaoglu N, Tolun A. Adult phenotype and further phenotypic variability in SRD5A3-CDG. BMC ...
- ... Filipovich A, Arico M; Histiocyte Society HLH Study group. Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin ... PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH. Blood. 2011 Nov 24;118(22):5794-8. doi: ...
- ... Maher BS, Marazita ML, Weese-Mayer DE. Facial phenotype in children and young adults with PHOX2B-determined congenital central hypoventilation syndrome: quantitative ...
- ... pounding in the chest (palpitations) and dizziness. Abnormal blood clots are commonly seen in adults with this condition. Without treatment, approximately one-third ...
- ... Brice A, Seta N, Heron D. 29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype. Orphanet ...