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

Till death do us Part: experiences of migrant live-in care workers facing the death of their care recipients - a study from Israel

至死不渝:来自以色列的移民住家护理员面对被护理者死亡的经历

Arieli, Daniella; Amitay, Gila; Yassour-Borochowitz, Dalit

Gain-of-function mutation of microRNA-140 in human skeletal dysplasia

人类骨骼发育不良中 microRNA-140 的功能获得性突变

Giedre Grigelioniene #, Hiroshi I Suzuki #, Fulya Taylan, Fatemeh Mirzamohammadi, Zvi U Borochowitz, Ugur M Ayturk, Shay Tzur, Eva Horemuzova, Anna Lindstrand, Mary Ann Weis, Gintautas Grigelionis, Anna Hammarsjö, Elin Marsk, Ann Nordgren, Magnus Nordenskjöld, David R Eyre, Matthew L Warman, Gen Nis

BRCA1/2 mutations and FMR1 alleles are randomly distributed: a case control study

BRCA1/2 突变和 FMR1 等位基因呈随机分布:一项病例对照研究

Dagan, Efrat; Cohen, Yoram; Mory, Adi; Adir, Vardit; Borochowitz, Zvi; Raanani, Hila; Kurolap, Alina; Melikhan-Revzin, Svetlana; Meirow, Dror; Gershoni-Baruch, Ruth

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia

外显子组测序发现 INPPL1 突变是眼部发育不良的病因

Céline Huber ,Eissa Ali Faqeih, Deborah Bartholdi, Christine Bole-Feysot, Zvi Borochowitz, Denise P Cavalcanti, Amandine Frigo, Patrick Nitschke, Joelle Roume, Heloísa G Santos, Stavit A Shalev, Andrea Superti-Furga, Anne-Lise Delezoide, Martine Le Merrer, Arnold Munnich, Valérie Cormier-Daire

Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation

身材矮小、甲发育不良、面部畸形和毛发稀少综合征是由 POC1A 突变引起的

Ofer Sarig, Sagi Nahum, Debora Rapaport, Akemi Ishida-Yamamoto, Dana Fuchs-Telem, Li Qiaoli, Ksenya Cohen-Katsenelson, Ronen Spiegel, Janna Nousbeck, Shirli Israeli, Zvi-Uri Borochowitz, Gilly Padalon-Brauch, Jouni Uitto, Mia Horowitz, Stavit Shalev, Eli Sprecher

Differential MSH2 promoter methylation in blood cells of Neurofibromatosis type 1 (NF1) patients

1型神经纤维瘤病(NF1)患者血细胞中MSH2启动子甲基化的差异

Fedorenko, Evelina; Morgan, Angela; Murray, Elizabeth; Cardinaux, Annie; Mei, Cristina; Tager-Flusberg, Helen; Fisher, Simon E; Kanwisher, Nancy; Dagan, Efrat; Cohen, Yoram; Mory, Adi; Adir, Vardit; Borochowitz, Zvi; Raanani, Hila; Kurolap, Alina; Melikhan-Revzin, Svetlana; Meirow, Dror; Gershoni-Baruch, Ruth; Gialluisi, Alessandro; Incollu, Simona; Pippucci, Tommaso; Barbara Lepori, Maria; Zappu, Antonietta; Loudianos, Georgios; Romeo, Giovanni; Gaskell, George; Gottweis, Herbert; Starkbaum, Johannes; Gerber, Monica M; Broerse, Jacqueline; Gottweis, Ursula; Hobbs, Abbi; Helén, Ilpo; Pashou, Maria; Snell, Karoliina; Soulier, Alexandra; Cirulli, Elizabeth T; Kasperavičiūtė, Dalia; Attix, Deborah K; Need, Anna C; Ge, Dongliang; Gibson, Greg; Goldstein, David B; Titze, Sabrina; Peters, Hartmut; Währisch, Sandra; Harder, Thomas; Guse, Katrin; Buske, Annegret; Tinschert, Sigrid; Harder, Anja

Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia

硫酸肝素蛋白聚糖 6 (GPC6) 突变会损害软骨内骨化并导致隐性肌骨发育不良

Ana Belinda Campos-Xavier, Danielle Martinet, John Bateman, Dan Belluoccio, Lynn Rowley, Tiong Yang Tan, Alica Baxová, Karl-Henrik Gustavson, Zvi U Borochowitz, A Micheil Innes, Sheila Unger, Jacques S Beckmann, Lauréane Mittaz, Diana Ballhausen, Andrea Superti-Furga, Ravi Savarirayan, Luisa Bonafé

Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications

DDR2基因突变会导致SMED,表现为肢体短小和异常钙化。

Bargal, Ruth; Cormier-Daire, Valerie; Ben-Neriah, Ziva; Le Merrer, Martine; Sosna, Jacob; Melki, Judith; Zangen, David H; Smithson, Sarah F; Borochowitz, Zvi; Belostotsky, Ruth; Raas-Rothschild, Annick

SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4

塞尔卡尔综合征:一种常染色体隐性遗传疾病,由WNT4基因功能缺失突变引起。

Mandel, Hannah; Shemer, Revital; Borochowitz, Zvi U; Okopnik, Marina; Knopf, Carlos; Indelman, Margarita; Drugan, Arie; Tiosano, Dov; Gershoni-Baruch, Ruth; Choder, Mordechai; Sprecher, Eli