机译:七位患者的高胰岛素血症低血糖症在Novo NSD1突变中
Childrens Hosp Philadelphia Div Human Genet Philadelphia PA 19104 USA;
Childrens Hosp Philadelphia Div Human Genet Philadelphia PA 19104 USA;
Childrens Hosp Philadelphia Div Endocrinol &
Diabet Philadelphia PA 19104 USA;
Cincinnati Childrens Hosp Med Ctr Div Human Genet Cincinnati OH 45229 USA;
Childrens Hosp Philadelphia Div Human Genet Philadelphia PA 19104 USA;
Univ San Diego Dept Pediat Div Genet San Diego CA 92110 USA;
Childrens Hosp Philadelphia Div Endocrinol &
Diabet Philadelphia PA 19104 USA;
Childrens Natl Hlth Syst Rare Dis Inst Genet &
Metab Washington DC USA;
Cincinnati Childrens Hosp Med Ctr Div Human Genet Cincinnati OH 45229 USA;
Rady Childrens Hosp San Diego CA USA;
Childrens Hosp Philadelphia Div Human Genet Philadelphia PA 19104 USA;
Rady Childrens Hosp San Diego CA USA;
Childrens Hosp Philadelphia Div Human Genet Philadelphia PA 19104 USA;
Childrens Natl Hlth Syst Rare Dis Inst Genet &
Metab Washington DC USA;
Childrens Hosp Philadelphia Div Endocrinol &
Diabet Philadelphia PA 19104 USA;
Childrens Hosp Philadelphia Div Human Genet Philadelphia PA 19104 USA;
Childrens Hosp Philadelphia Div Human Genet Philadelphia PA 19104 USA;
Childrens Hosp Philadelphia Div Human Genet Philadelphia PA 19104 USA;
Childrens Hosp Philadelphia Div Endocrinol &
Diabet Philadelphia PA 19104 USA;
Childrens Hosp Philadelphia Div Human Genet Philadelphia PA 19104 USA;
Childrens Hosp Philadelphia Div Human Genet Philadelphia PA 19104 USA;
Childrens Hosp Philadelphia Div Human Genet Philadelphia PA 19104 USA;
Childrens Hosp Philadelphia Div Human Genet Philadelphia PA 19104 USA;
hyperinsulinism; hypoglycemia; NSD1; overgrowth syndrome; sacrococcygeal teratoma; Sotos syndrome;
机译:七位患者的高胰岛素血症低血糖症在Novo NSD1突变中
机译:由于从头葡萄糖激酶突变,导致严重的持续性高胰岛素低血糖。
机译:持久性高胰岛素血症性低血糖的婴幼儿核苷酸结合Fold-2突变的日本患者的遗传分析损害腺嘌呤核苷酸与磺酰脲受体1的协同结合。
机译:通过来自体外活化B细胞慢性淋巴细胞白血病细胞超深序的De Novo IghV突变检测:活化诱导的脱氨酶功能的证据
机译:患有新型巨脑综合征的患者的MYCN de novo功能获得性突变
机译:由于PMM2突变导致CDG患者的低血糖:高胰岛素血症患者的随访
机译:七名患者的高胰岛素血症低血糖症在Novo NSD1突变中