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

Opportunities and Limitations of Modern High Throughput Sequencing in Invasive Prenatal Diagnostics

现代高通量测序技术在侵入性产前诊断中的机遇与局限性

Gabriel, Heinz; Stumm, Markus

The First Neocentric, Discontinuous, and Complex Small Supernumerary Marker Chromosome Composed of 7 Euchromatic Blocks Derived from 5 Different Chromosomes

第一个新着丝粒、不连续、复杂的小型超数标记染色体,由源自5条不同染色体的7个常染色质区段组成。

Weber, André; Liehr, Thomas; Al-Rikabi, Ahmed; Bilgen, Simal; Heinrich, Uwe; Schiller, Jenny; Stumm, Markus

Pre-implantation and polar body diagnosis in cases of parental chromosomal translocations applying array-CGH

应用阵列比较基因组杂交技术对父母染色体易位病例进行植入前和极体诊断

Wegner, Rolf-Dieter; Stumm, Markus; Mundt, Heide; Bloechle, Matthias

Association of ESR and FOXP3 gene polymorphisms with outcome of ovarian stimulation in infertile females undergoing IVF

ESR和FOXP3基因多态性与不孕女性体外受精卵巢刺激结局的相关性

Wegner, Rolf-Dieter; Stumm, Markus; Hofmann, Wera; Halder, Ashutosh; Jain, Manish; Chaudhary, Isha; Pathak, Ashutosh; Agarwal, Divya; Phadke, Shubha R; Sibin, M K; Chetan, GK; Lavanya, Ch; Jeru, Manoj M; Bhat, Dhananjaya I; Barna, Basanti; Badaruddoza; Matharoo, Kawaljit; Bhanwer, Amarjeet Singh; Thakur, Swati B; Rao, Mandava V; Kavitha, Eppa; Goud, Iravathy; Latha, Swarna; Swain, Meenakshi; De Paude, Michelle; Modi, Tejal; Anuradha; V, Ravi; Aneeb, Sakina; M, Adi Maha Lakshmi; P, Vijayanand Reddy; Ghosh, Priyanka; Bhaumik, Pranami; Dey, Subrata K; Prabhakar, Puttachandra; Christopher, Rita; Nagaraja, Dindagur; Chawla, Diwesh; Bansal, Savita; Kare, Pawan K; Basu Dev, Basu; Madhu, Sri Venkata; Tripathi, Ashok K; Shaikh, Nuzhat; Shah, Nalini; Mukherjee, Srabani; Mistri, Mehul; Patel, Harsh; Tanna, Tanmay; Ankleshwaria, Chitra; Sheth, Frenny; Sheth, Jayesh; Singh, Rajan; Mittal, Balraj; Ghoshal, Uday C; Ravishankara; Shreeshakala; Rai, S Padmalatha; Prasad, Kerthana; Deepthi, C; Gopinath, PM; Satyamoorthy, K; Vallabani, NV Srikanth; Shukla, Ritesh K; Konka, Dinesh; Kumar, Ashutosh; Singh, Sanjay; Dhawan, Alok; Bhattacharya, Soumyaroop; Zhou, Zhongyang; Yee, Min; Lopez, Ashley; Lunger, Valarie; Buczynski, Bradley; Pryhuber, Gloria; Mariani, Thomas; OReilly, Michael; Bhattacharjee, Ashima; Ralle, Martina; Lutsenko, Svetlana; Singh, Pawan Kumar; Sharma, Shipra; Ghosh, Manju; Shastri, Shivaram S; Gupta, Neerja; Roy Chowdhury, Madhumita; Kabra, Madhulika; Dave, Usha P; Bhardwaj, Ritu; Agrawal, Damyanti; Kumar, Ashok; Mohapatra, Bhagyalaxmi; Lavanya, C; Chetan, GK; Sibin, MK; Jeru, Manoj M; Srinivas, Bharath MM; Kansara, Krupa; Patel, Pal; Shah, Darshini; Vallabani, NV Srikanth; Shukla, Ritesh K; Singh, Sanjay; Kumar, Ashutosh; Dhawan, Alok; Velagaleti, Gopalrao; Mendiola, Christina; Mohamed, Gihan; Ehman, William Jr; Noronha, Vinaya; Ortega, Veronica; Manikandan, Mayakannan; Rao A K, Deva Magendhra; Munirajan, Arasambattu Kannan; Patnam, Arun Kiran; Vinu, R; Vijayalakshmi, J; Venkatachalam, P; Rani, G Usha

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

Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1

华沙断裂综合征是一种与 XPD 解旋酶家族成员 DDX11/ChlR1 基因突变相关的黏连蛋白病。

van der Lelij, Petra; Chrzanowska, Krystyna H; Godthelp, Barbara C; Rooimans, Martin A; Oostra, Anneke B; Stumm, Markus; Zdzienicka, Małgorzata Z; Joenje, Hans; de Winter, Johan P

Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder.

人类 RAD50 缺乏症与尼梅亨断裂综合征类似疾病

Waltes Regina, Kalb Reinhard, Gatei Magtouf, Kijas Amanda W, Stumm Markus, Sobeck Alexandra, Wieland Britta, Varon Raymonda, Lerenthal Yaniv, Lavin Martin F, Schindler Detlev, Dörk Thilo