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

Characterization of Turner Syndrome-associated Diabetes Mellitus

特纳综合征相关糖尿病的特征

Cameron-Pimblett, Antoinette; La Rosa, Clementina; Davies, Melanie C; Suntharalingham, Jenifer P; Ishida, Miho; Achermann, John C; Conway, Gerard S

The transcriptomic landscape of monosomy X (45,X) during early human fetal and placental development

早期人类胎儿和胎盘发育过程中X单体(45,X)的转录组图谱

Suntharalingham, Jenifer P; Del Valle, Ignacio; Buonocore, Federica; McGlacken-Byrne, Sinead M; Brooks, Tony; Ogunbiyi, Olumide K; Liptrot, Danielle; Dunton, Nathan; Madhan, Gaganjit K; Metcalfe, Kate; Nel, Lydia; Marshall, Abigail R; Ishida, Miho; Sebire, Neil J; Moore, Gudrun E; Crespo, Berta; Solanky, Nita; Conway, Gerard S; Achermann, John C

Mapping the anatomical and transcriptional landscape of early human fetal ovary development.

绘制人类早期胎儿卵巢发育的解剖和转录图谱

McGlacken-Byrne Sinead M, Del Valle Ignacio, Xenakis Theodoros, Simcock Ian C, Suntharalingham Jenifer P, Buonocore Federica, Crespo Berta, Moreno Nadjeda, Liptrot Danielle, Niola Paola, Brooks Tony, Conway Gerard S, Dattani Mehul T, Arthurs Owen J, Solanky Nita, Achermann John C

Characterizing the Human Fetal Perimeiotic 45,X Ovary at Single-Cell Resolution

以单细胞分辨率表征人类胎儿45,X期卵巢

McGlacken-Byrne, Sinéad M; Del Valle, Ignacio; Xenakis, Theodoros; Suntharalingham, Jenifer P; Nel, Lydia; Liptrot, Danielle; Crespo, Berta; Ogunbiyi, Olumide K; Niola, Paola; Brooks, Tony; Solanky, Nita; Conway, Gerard S; Achermann, John C

A Tiered Approach to Exome Sequencing Analysis in Early-Onset Primary Ovarian Insufficiency

早期原发性卵巢功能不全外显子组测序分析的分层方法

McGlacken-Byrne, Sinéad M; Suntharalingham, Jenifer P; Ishida, Miho; Buonocore, Federica; Del Valle, Ignacio; Cameron-Pimblett, Antoinette; Dattani, Mehul T; Achermann, John C; Conway, Gerard S

ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency

ZSWIM7与人类女性减数分裂和家族性原发性卵巢功能不全有关

McGlacken-Byrne, Sinéad M; Le Quesne Stabej, Polona; Del Valle, Ignacio; Ocaka, Louise; Gagunashvili, Andrey; Crespo, Berta; Moreno, Nadjeda; James, Chela; Bacchelli, Chiara; Dattani, Mehul T; Williams, Hywel J; Kelberman, Dan; Achermann, John C; Conway, Gerard S

Management of a Girl With Delayed Puberty and Elevated Gonadotropins

对青春期延迟且促性腺激素水平升高的女孩的治疗管理

McGlacken-Byrne, Sinéad M; Achermann, John C; Conway, Gerard S

Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline

类固醇21-羟化酶缺乏引起的先天性肾上腺皮质增生症:内分泌学会临床实践指南

Speiser, Phyllis W; Arlt, Wiebke; Auchus, Richard J; Baskin, Laurence S; Conway, Gerard S; Merke, Deborah P; Meyer-Bahlburg, Heino F L; Miller, Walter L; Murad, M Hassan; Oberfield, Sharon E; White, Perrin C

Hormone replacement treatment choices in complete androgen insensitivity syndrome: an audit of an adult clinic

完全性雄激素不敏感综合征的激素替代治疗选择:一家成人诊所的审计

Ko, Jennifer K Y; King, Thomas F J; Williams, Louise; Creighton, Sarah M; Conway, Gerard S

STAG3 truncating variant as the cause of primary ovarian insufficiency

STAG3截断变异是原发性卵巢功能不全的病因

Le Quesne Stabej, Polona; Williams, Hywel J; James, Chela; Tekman, Mehmet; Stanescu, Horia C; Kleta, Robert; Ocaka, Louise; Lescai, Francesco; Storr, Helen L; Bitner-Glindzicz, Maria; Bacchelli, Chiara; Conway, Gerard S