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

Customized Chromosomal Microarrays for Neurodevelopmental Disorders.

用于神经发育障碍的定制染色体微阵列

Rincic Martina, Brecevic Lukrecija, Liehr Thomas, Gotovac Jercic Kristina, Doder Ines, Borovecki Fran

Complex intrachromosomal rearrangement in 1q leading to 1q32.2 microdeletion: a potential role of SRGAP2 in the gyrification of cerebral cortex

1q染色体内复杂重排导致1q32.2微缺失:SRGAP2在脑皮层回旋形成中的潜在作用

Rincic, Martina; Rados, Milan; Krsnik, Zeljka; Gotovac, Kristina; Borovecki, Fran; Liehr, Thomas; Brecevic, Lukrecija

Heteromorphic variants of chromosome 9

9号染色体的异型变异

Kosyakova, Nadezda; Grigorian, Ani; Liehr, Thomas; Manvelyan, Marina; Simonyan, Isabella; Mkrtchyan, Hasmik; Aroutiounian, Rouben; Polityko, Anna D; Kulpanovich, Anna I; Egorova, Tatiana; Jaroshevich, Evgenia; Frolova, Alla; Shorokh, Natalia; Naumchik, Irina V; Volleth, Marianne; Schreyer, Isolde; Nelle, Heike; Stumm, Markus; Wegner, Rolf-Dieter; Reising-Ackermann, Gisela; Merkas, Martina; Brecevic, Lukretija; Martin, Thomas; Rodríguez, Laura; Bhatt, Samarth; Ziegler, Monika; Kreskowski, Katharina; Weise, Anja; Sazci, Ali; Vorsanova, Svetlana; Cioffi, Marcelo de Bello; Ergul, Emel

Human Ring Chromosomes - New Insights for their Clinical Significance

人类环状染色体——对其临床意义的新见解

Guilherme, Rs; Klein, E; Hamid, Ab; Bhatt, S; Volleth, M; Polityko, A; Kulpanovich, A; Dufke, A; Albrecht, B; Morlot, S; Brecevic, L; Petersen, Mb; Manolakos, E; Kosyakova, N; Liehr, T

Somatic mosaicism in cases with small supernumerary marker chromosomes

体细胞嵌合现象,常见于具有少量额外标记染色体的病例

Liehr, Thomas; Karamysheva, Tatyana; Merkas, Martina; Brecevic, Lukrecija; Hamid, Ahmed B; Ewers, Elisabeth; Mrasek, Kristin; Kosyakova, Nadezda; Weise, Anja

Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications

亲本来源和细胞遗传学上可识别的新生直接和反向重复的形成机制

Kotzot, D; Martinez, M J; Bagci, G; Basaran, S; Baumer, A; Binkert, F; Brecevic, L; Castellan, C; Chrzanowska, K; Dutly, F; Gutkowska, A; Karaüzüm, S B; Krajewska-Walasek, M; Luleci, G; Miny, P; Riegel, M; Schuffenhauer, S; Seidel, H; Schinzel, A