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

Mixed Segmental Uniparental Disomy of Chromosome 15q11-q1 Coexists with Homozygous Variant in GNB5 Gene in Child with Prader-Willi and Lodder-Merla Syndrome

患有普拉德-威利综合征和洛德-梅拉综合征的儿童,其15q11-q1染色体混合节段单亲二体性与GNB5基因纯合变异并存

Marczyk, Tomasz; Libura, Maria; Wikiera, Beata; Góralska, Magdalena; Pollak, Agnieszka; Telenga, Marlena; Płoski, Rafał; Śmigiel, Robert

Dysmorphic syndromes with overgrowth - systematic review.  Part 1 - monogenic syndromes

伴有过度生长的畸形综合征——系统性综述。第一部分——单基因综合征

Gąsiorowska, Julia; Grundys, Amelia; Gawlik, Laura; Dziamara, Weronika; Śmigiel, Robert; Wikiera, Beata

Difficulties in Interpreting IGF-1 Levels in Short Stature Children Born Small for Gestational Age (SGA) Treated with Recombinant Human Growth Hormone (rhGH) Based on Data from Six Clinical Centers in Poland

基于波兰六个临床中心的数据,探讨接受重组人生长激素(rhGH)治疗的小于胎龄儿(SGA)矮小症患者IGF-1水平解读的难点

Glińska, Marta; Walczak, Mieczysław; Wikiera, Beata; Pyrżak, Beata; Majcher, Anna; Paluchowska, Monika; Gawlik, Aneta; Antosz, Aleksandra; Kusz, Marcin; Bossowski, Artur; Stożek, Karolina; Wędrychowicz, Anna; Starzyk, Jerzy; Petriczko, Elżbieta

Syndrome of Congenital Insulin Resistance Caused by a Novel INSR Gene Mutation

由新型INSR基因突变引起的先天性胰岛素抵抗综合征

Rojek, Aleksandra; Wikiera, Beata; Noczynska, Anna; Niedziela, Marek

Response to Treatment with Recombinant Human Growth Hormone (rhGH) of Short Stature Children Born Too Small for Gestational Age (SGA) in Selected Centres in Poland

波兰部分中心对出生时小于胎龄儿(SGA)使用重组人生长激素(rhGH)治疗的疗效

Glińska, Marta; Walczak, Mieczysław; Wikiera, Beata; Pyrżak, Beata; Majcher, Anna; Paluchowska, Monika; Gawlik, Aneta; Antosz, Aleksandra; Kusz, Marcin; Bossowski, Artur; Stożek, Karolina; Wędrychowicz, Anna; Starzyk, Jerzy; Petriczko, Elżbieta

Silver-Russell syndrome and Turner syndrome in a girl with short stature treated with growth hormone - case report

一名身材矮小的女孩接受生长激素治疗,结果显示她同时患有Silver-Russell综合征和Turner综合征——病例报告

Wikiera, Beata; Nocoń-Bohusz, Julita; Noczyńska, Anna

Soluble Klotho Is Decreased in Children With Type 1 Diabetes and Correlated With Metabolic Control.

1 型糖尿病患儿体内可溶性 Klotho 减少,且与代谢控制相关

Zubkiewicz-Kucharska Agnieszka, Wikiera Beata, Noczyńska Anna

Complex glycerol kinase deficiency - long-term follow-up of two patients

复杂甘油激酶缺乏症——两例患者的长期随访

Wikiera, Beata; Jakubiak, Aleksandra; Łaczmanska, Izabela; Noczyńska, Anna; Śmigiel, Robert