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Results 1 - 10 of 47 for ADULT i BLOOD GROUP PHENOTYPE
  1. ... 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: ...
  2. ... risk of developing metabolic syndrome, which is a group of conditions that ... people, adults with Klinefelter syndrome also have an increased risk ...
  3. ... risk for developing metabolic syndrome, which is a group of conditions ... affected adults experience pauses in breathing during sleep (sleep apnea). ...
  4. Scleroderma/Statistics and Research ... Scleroderma ... Osteoarthritis/Statistics and Research ... Osteoarthritis ... Gout/Statistics and Research ... Gout ... Juvenile Arthritis/Statistics ...
  5. 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 ...
  6. ... Ayhan O, Gokcay G, Basbogaoglu N, Tolun A. Adult phenotype and further phenotypic variability in SRD5A3-CDG. BMC ...
  7. ... 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: ...
  8. ... Maher BS, Marazita ML, Weese-Mayer DE. Facial phenotype in children and young adults with PHOX2B-determined congenital central hypoventilation syndrome: quantitative ...
  9. ... pounding in the chest (palpitations) and dizziness. Abnormal blood clots are commonly seen in adults with this condition. Without treatment, approximately one-third ...
  10. ... 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 ...
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