机译:磷酸性脱氢酶(PHGDH)缺乏没有癫痫模仿原发性微微术
Department of Genetics APHP‐Robert DEBRE University HospitalParis VII‐Denis Diderot Medical School;
Department of Genetics APHP‐Robert DEBRE University HospitalParis VII‐Denis Diderot Medical School;
Department of Genetics APHP‐Robert DEBRE University HospitalParis VII‐Denis Diderot Medical School;
Department of Genetics APHP‐Robert DEBRE University HospitalParis VII‐Denis Diderot Medical School;
Department of Child Neurology and Metabolic DisordersAPHP‐Robert DEBRE University HospitalParis;
Department of Genetics APHP‐Robert DEBRE University HospitalParis VII‐Denis Diderot Medical School;
Department of Child Neurology and Metabolic DisordersAPHP‐Robert DEBRE University HospitalParis;
Department of PediatricsCayenne General HospitalFrench Guiana France;
Department of PediatricsCayenne General HospitalFrench Guiana France;
Department of PediatricsCayenne General HospitalFrench Guiana France;
Department of PediatricsCayenne General HospitalFrench Guiana France;
Department of Genetics APHP‐Robert DEBRE University HospitalParis VII‐Denis Diderot Medical School;
Department of Genetics APHP‐Robert DEBRE University HospitalParis VII‐Denis Diderot Medical School;
clinical heterogeneity; exome screening; PHGDH deficiency;
机译:磷酸性脱氢酶(PHGDH)缺乏没有癫痫模仿原发性微微术
机译:3-磷酸甘油酸脱氢酶缺乏症导致的先天性小头畸形和癫痫发作:氨基酸治疗的结果。
机译:3-磷酸甘油酸脱氢酶缺乏症导致的先天性小头症和癫痫发作:氨基酸治疗的结果
机译:磷酸性蛋白缺乏对伯克德利亚植物自由生活和共生生活的影响
机译:与初级小头畸形相关的中心体蛋白在哺乳动物皮质发生中的作用。
机译:验证并启用磷酸甘油酸脱氢酶(PHGDH)作为PHGDH扩增乳腺癌中基于片段的药物发现的靶标
机译:SLC9A6突变导致X连锁智力低下,小头畸形,癫痫和共济失调(一种模仿Angelman综合征的表型)