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机译:prim1缺陷导致独特的原始侏儒综合征
Univ Edinburgh MRC Inst Genet &
Mol Med MRC Human Genet Unit Edinburgh EH4 2XU Midlothian;
Univ Edinburgh MRC Inst Genet &
Mol Med MRC Human Genet Unit Edinburgh EH4 2XU Midlothian;
Univ Edinburgh MRC Inst Genet &
Mol Med MRC Human Genet Unit Edinburgh EH4 2XU Midlothian;
Univ Edinburgh MRC Inst Genet &
Mol Med MRC Human Genet Unit Edinburgh EH4 2XU Midlothian;
Univ Edinburgh MRC Inst Genet &
Mol Med MRC Human Genet Unit Edinburgh EH4 2XU Midlothian;
Univ Edinburgh MRC Inst Genet &
Mol Med MRC Human Genet Unit Edinburgh EH4 2XU Midlothian;
Univ Edinburgh Ctr Genom &
Expt Med MRC Inst Genet &
Mol Med Edinburgh EH4 2XU Midlothian;
Univ Edinburgh MRC Inst Genet &
Mol Med MRC Human Genet Unit Edinburgh EH4 2XU Midlothian;
Univ Debrecen Fac Med Inst Pediat H-4032 Debrecen Hungary;
Univ Debrecen Fac Med Inst Pediat H-4032 Debrecen Hungary;
Univ Debrecen Fac Med Inst Pediat H-4032 Debrecen Hungary;
Univ Debrecen Fac Med Inst Pathol H-4032 Debrecen Hungary;
Univ Debrecen Fac Med Inst Pediat H-4032 Debrecen Hungary;
Royal Hosp Sick Children Dept Radiol Edinburgh EH9 1LF Midlothian Scotland;
Univ Debrecen Fac Med Inst Pediat H-4032 Debrecen Hungary;
Royal Devon &
Exeter NHS Fdn Trust Dept Clin Genet Exeter EX1 2ED Devon England;
Univ Edinburgh MRC Inst Genet &
Mol Med MRC Human Genet Unit Edinburgh EH4 2XU Midlothian;
Univ Debrecen Fac Med Inst Pediat H-4032 Debrecen Hungary;
Univ Edinburgh MRC Inst Genet &
Mol Med MRC Human Genet Unit Edinburgh EH4 2XU Midlothian;
DNA replication; genome stability; growth disorders; human genetics; rare disease;
机译:先前被诊断为Seckel综合征的Majewski II型骨发育异常原始侏儒症(MOPD II)综合征:PCNT基因发生新突变的报道。
机译:严重不成熟,原始侏儒症和神经系统异常会扩大LIG4缺乏症的临床范围
机译:与roifman综合征相比,患者患者的免疫缺陷I型I型I.
机译:改善中医虚证的模糊证候辨析
机译:巨细胞病毒性视网膜炎和获得性免疫缺陷综合征(免疫缺陷)患者视网膜脱离和视力丧失的风险。
机译:De Novo GMNN突变会导致常染色体显性原始侏儒症与Meier-Gorlin综合征相关
机译:微头原始侏儒症两种日语案例:古典塞克尔综合征和骨质衰减原始侏儒症II型
机译:2011年财政年度独立审计师报告国家基金转入国防部人类免疫缺陷病毒/获得性免疫缺陷综合症预防。