日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome

最初被诊断为沃纳综合征的患者中POLD1种系突变

Lessel, Davor; Hisama, Fuki M; Szakszon, Katalin; Saha, Bidisha; Sanjuanelo, Alexander Barrios; Salbert, Bonnie A; Steele, Pamela D; Baldwin, Jennifer; Brown, W Ted; Piussan, Charles; Plauchu, Henri; Szilvássy, Judit; Horkay, Edit; Högel, Josef; Martin, George M; Herr, Alan J; Oshima, Junko; Kubisch, Christian

Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16

家族性婴儿惊厥和阵发性舞蹈手足徐动症:一种与人类16号染色体着丝粒周围区域相关的新型神经系统综合征

Szepetowski, P; Rochette, J; Berquin, P; Piussan, C; Lathrop, G M; Monaco, A P