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S

Sabine Kliesch

University Hospital Münster
H指数:71
被引数:1.6万

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Clinical syndromes linked to biallelic germline variants in MCM8 and MCM9

与MCM8和MCM9双等位基因生殖系变异相关的临床综合征

Human Genetics and Genomics Advances
IF3.6
2025-07-180
OAAI
Noah C. Helderman; Ting Yang; Claire Palles; Diantha Terlouw; Hailiang Mei; Ruben H.P. Vorderman; Davy Cats; Marcos Díaz-Gay; Marjolijn C.J. Jongmans; Ashwin Ramdien; Irma van de Beek; Thomas F. Eleveld; Andrew Green; Frederik J. Hes; Marry M. van den Heuvel-Eibrink; Annelore Van Der Kelen; Sabine Kliesch; Roland P. Kuiper; Inge M.M. Lakeman; Lisa E.E.L.O. Lashley; Leendert H.J. Looijenga; Manon S. Oud; Johanna Steingröver; Yardena Tenenbaum-Rakover; Carli M. Tops; Frank Tüttelmann; Richarda M. de Voer; Dineke Westra; Margot J. Wyrwoll; Mariano Golubicki; Marina Antelo; Laia Bonjoch; Mariona Terradas; Laura Valle; Ludmil B. Alexandrov; Hans Morreau; Tom van Wezel; Sergi Castellví-Bel; Yael Goldberg; Maartje Nielsen
NXT2 is a key component of the RNA nuclear export factor complex in the human testis and essential for spermatogenesis

NXT2是人类睾丸中RNA核输出因子复合物的关键成分，对精子发生至关重要。

Nature Communications
IF15.7
2025-07-070
OAAI
Ann-Kristin Dicke; Ammar Ahmedani; Lin Ma; Leonie Herrmann; Godfried W. van der Heijden; Sophie A. Koser; Claudia Krallmann; Oguzhan Kalyon; Miguel J. Xavier; Joris A. Veltman; Sabine Kliesch; Nina Neuhaus; Noora Kotaja; Frank Tüttelmann; Birgit Stallmeyer
Genotype-specific differences in infertile men due to loss-of-function variants in M1AP or ZZS genes

由于M1AP或ZZS基因失活突变导致的不育男性中的基因型特异性差异

EMBO MOLECULAR MEDICINE
IF8.3
2025-05-150
OA
Rotte, Nadja; Dunleavy, Jessica E. M.; Runkel, Michelle D.; Bosse, Lina; Fietz, Daniela; Pilatz, Adrian; Kuss, Johanna; Dicke, Ann-Kristin; Winge, Sofia B.; Di Persio, Sara; Ruckert, Christian; Nordhoff, Verena; Schuppe, Hans-Christian; Almstrup, Kristian; Kliesch, Sabine; Neuhaus, Nina; Stallmeyer, Birgit; O'Bryan, Moira K.; Tuettelmann, Frank; Friedrich, Corinna
Late Breaking Abstract - Recessively inherited deficiency of secreted WFDC2 (HE4) causes nasal polyposis and bronchiectasis

晚期研究摘要-分泌型WFDC2 (HE4) 隐性遗传缺陷导致鼻息肉和支气管扩张

EUROPEAN RESPIRATORY JOURNAL
IF21
2024-10-300
PRE
Dougherty, Gerard; Ostrowski, Lawrence E.; Noethe-Menchen, Tabea; Raidt, Johanna; Schramm, Andre; Olbrich, Heike; Yin, Weining; Sears, Patrick R.; Dang, Hong; Smith, Amanda J.; Beule, Achim G.; Hjeij, Rim; Rutjes, Niels; Haarman, Eric G.; Maas, Saskia M.; Ferkol, Thomas W.; Noone, Peadar G.; Olivier, Kenneth N.; Bracht, Diana C.; Barbry, Pascal; Zaragosi, Laure-Emmanuelle; Fierville, Morgane; Kliesch, Sabine; Wohlgemuth, Kai; Koenig, Julia; George, Sebastian; Loges, Niki; Ceppe, Agathe; Markovetz, Matthew R.; Luo, Hong; Guo, Ting; Rizk, Hoda; Eldesoky, Tarek; Dahlke, Katrin; Boldt, Karsten; Ueffing, Marius; Hill, David B.; Pang, Yuan-Ping; Knowles, Michael R.; Zariwala, Maimoona A.; Omran, Heymut
Inherited defects of piRNA biogenesis cause transposon de-repression, impaired spermatogenesis, and human male infertility
NATURE COMMUNICATIONS
IF15.7
2024-08-093
OAAI
Stallmeyer, Birgit; Buehlmann, Clara; Stakaitis, Rytis; Dicke, Ann-Kristin; Ghieh, Farah; Meier, Luisa; Zoch, Ansgar; MacLeod, David MacKenzie; Steingroever, Johanna; Okutman, Ozlem; Fietz, Daniela; Pilatz, Adrian; Riera-Escamilla, Antoni; Xavier, Miguel J.; Ruckert, Christian; Di Persio, Sara; Neuhaus, Nina; Gurbuz, Ali Sami; Salvarci, Ahmet; Le May, Nicolas; Mceleny, Kevin; Friedrich, Corinna; van der Heijden, Godfried; Wyrwoll, Margot J.; Kliesch, Sabine; Veltman, Joris A.; Krausz, Csilla; Viville, Stephane; Conrad, Donald F.; O'Carroll, Donal; Tuettelmann, Frank

研究方向

暂未获取到该数据
F
Frank Tüttelmann
H 指数:44论文数:257被引数:6,729
M
Michael Zitzmann
H 指数:56论文数:302被引数:1.1万
J
Joachim Wistuba
H 指数:38论文数:183被引数:4,561
S
Stefan Schlatt
H 指数:62论文数:350被引数:1.2万
J
Jörg Gromoll
H 指数:58论文数:218被引数:1.0万
N
Nina Neuhaus
H 指数:22论文数:87被引数:1,689
M
Margot J. Wyrwoll
H 指数:18论文数:48被引数:1,639
J
Jann‐Frederik Cremers
H 指数:14论文数:42被引数:594
C
Claudia Krallmann
H 指数:14论文数:30被引数:767
E
Eberhard Nieschlag
H 指数:107论文数:1,026被引数:4.2万