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

From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants

在一个具有单等位基因和双等位基因 PARN 致病变异的家族中,从端粒长度正常的不完全外显率到严重疾病和端粒缩短

Lois M Dodson, Alessandro Baldan, Mikael Nissbeck, Sethu M R Gunja, Penelope E Bonnen, Geraldine Aubert, Sherri Birchansky, Anders Virtanen, Alison A Bertuch

Integrated tumor and germline whole-exome sequencing identifies mutations in MAPK and PI3K pathway genes in an adolescent with rosette-forming glioneuronal tumor of the fourth ventricle

整合肿瘤和生殖系全外显子组测序鉴定出一名患有第四脑室菊形团状神经胶质瘤的青少年患者的 MAPK 和 PI3K 通路基因突变

Lin, Frank Y; Bergstrom, Katie; Person, Richard; Bavle, Abhishek; Ballester, Leomar Y; Scollon, Sarah; Raesz-Martinez, Robin; Jea, Andrew; Birchansky, Sherri; Wheeler, David A; Berg, Stacey L; Chintagumpala, Murali M; Adesina, Adekunle M; Eng, Christine; Roy, Angshumoy; Plon, Sharon E; Parsons, D Williams

Anti-neutrophil cytoplasmic antibody (c-ANCA) positive recurrent eosinophilic fasciitis responsive to cyclophosphamide: a clinical pathology conference held by the Division of Rheumatology at Hospital for Special Surgery

抗中性粒细胞胞浆抗体(c-ANCA)阳性复发性嗜酸性筋膜炎对环磷酰胺治疗有效:特种外科医院风湿病科召开的临床病理会议

Haiduc, Virginia Florina; Erkan, Doruk; Kirou, Kyriakos; Birchansky, Sherri; Park, Josephine; Danon, Moris J

Hereditary neuropathy with liability to pressure palsies: case report and discussion

易患压力性麻痹的遗传性神经病:病例报告及讨论

Grossman, Marc J; Feinberg, Joseph; DiCarlo, Edward F; Birchansky, Sherri B; Wolfe, Scott W