نتایج جستجو برای: metabolic abnormality
تعداد نتایج: 361901 فیلتر نتایج به سال:
A case of gyrate atrophy of the choroid and retina and hyperornithinemia in a 28-year-old man was subjected to extensive clinical and biochemical investigation. The familial occurrence of the ocular disease and of abnormality of amino acids was unique to this patient, being absent in parents and siblings. He presented with progressive visual loss, and had cataracts and large areas of peripheral...
this report presents the cytogenetic findings (g -banded chromosomal analysis} in 383 cases referred for suspected chromosomal abnormalities because of abnormal clinical features. chromosomal aberrations were found in 63 116.5%) of these cases, free trisomy 21 (7%) being the most common abnormality , followed by 47, xxykaryotype (4%). the breakdown figures for each group is discussed in the text.
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید