Hasil Pencarian - Isabella Aprea
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Primary Ciliary Dyskinesia Associated Disease-Causing Variants in <i>CCDC39</i> and <i>CCDC40</i> Cause Axonemal Absence of Inner Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7 oleh Alina Wilken, Inga Marlena Höben, Alexander Wolter, Niki Tomas Loges, Heike Olbrich, Isabella Aprea, Bernd Dworniczak, Johanna Raidt, Heymut Omran
Diterbitkan 2024-07-01
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Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility. oleh Isabella Aprea, Johanna Raidt, Inga Marlena Höben, Niki Tomas Loges, Tabea Nöthe-Menchen, Petra Pennekamp, Heike Olbrich, Thomas Kaiser, Luisa Biebach, Frank Tüttelmann, Judit Horvath, Maria Schubert, Claudia Krallmann, Sabine Kliesch, Heymut Omran
Diterbitkan 2021-02-01
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Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility. oleh Asaf Ta-Shma, Rim Hjeij, Zeev Perles, Gerard W Dougherty, Ibrahim Abu Zahira, Stef J F Letteboer, Dinu Antony, Alaa Darwish, Dorus A Mans, Sabrina Spittler, Christine Edelbusch, Sandra Cindrić, Tabea Nöthe-Menchen, Heike Olbrich, Friederike Stuhlmann, Isabella Aprea, Petra Pennekamp, Niki T Loges, Oded Breuer, Avraham Shaag, Azaria J J T Rein, Elif Yilmaz Gulec, Alper Gezdirici, Revital Abitbul, Nael Elias, Israel Amirav, Miriam Schmidts, Ronald Roepman, Orly Elpeleg, Heymut Omran
Diterbitkan 2018-08-01
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CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module oleh Gerard W. Dougherty, Katsutoshi Mizuno, Tabea Nöthe-Menchen, Yayoi Ikawa, Karsten Boldt, Asaf Ta-Shma, Isabella Aprea, Katsura Minegishi, Yuan-Ping Pang, Petra Pennekamp, Niki T. Loges, Johanna Raidt, Rim Hjeij, Julia Wallmeier, Huda Mussaffi, Zeev Perles, Orly Elpeleg, Franziska Rabert, Hidetaka Shiratori, Stef J. Letteboer, Nicola Horn, Samuel Young, Timo Strünker, Friederike Stumme, Claudius Werner, Heike Olbrich, Katsuyoshi Takaoka, Takahiro Ide, Wang Kyaw Twan, Luisa Biebach, Jörg Große-Onnebrink, Judith A. Klinkenbusch, Kavita Praveen, Diana C. Bracht, Inga M. Höben, Katrin Junger, Jana Gützlaff, Sandra Cindrić, Micha Aviram, Thomas Kaiser, Yasin Memari, Petras P. Dzeja, Bernd Dworniczak, Marius Ueffing, Ronald Roepman, Kerstin Bartscherer, Nicholas Katsanis, Erica E. Davis, Israel Amirav, Hiroshi Hamada, Heymut Omran
Diterbitkan 2020-11-01
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