Výsledky vyhledávání - Revital Abitbul
- Zobrazuji výsledky 1 - 3 z 3
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1
Systematic Analysis of<i>CCNO</i>Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis Autor Israel Amirav, Julia Wallmeier, Niki T. Loges, Tabea Menchen, Petra Pennekamp, Huda Mussaffi, Revital Abitbul, Avraham Avital, Lea Bentur, Gerard W. Dougherty, Nael Elias, Moran Lavie, Heike Olbrich, Claudius Werner, Chris Kintner, Heymut Omran
Vydáno 2016Artigo -
2
MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia Autor Mieke Boon, Julia Wallmeier, Lina Ma, Niki T. Loges, Martine Jaspers, Heike Olbrich, Gerard W. Dougherty, Johanna Raidt, Claudius Werner, Israel Amirav, Avigdor Hevroni, Revital Abitbul, Avraham Avital, Ruth Soferman, Marja W. Wessels, Christopher O’Callaghan, Eddie M.K. Chung, Andrew Rutman, Robert A. Hirst, Eduardo Moya, Hannah M. Mitchison, Sabine Van daele, K. De Boeck, Mark Jorissen, Chris Kintner, Harry Cuppens, Heymut Omran
Vydáno 2014Artigo -
3
Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility Autor 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 Yılmaz Güleç, Alper Gezdirici, Revital Abitbul, Nael Elias, Israel Amirav, Miriam Schmidts, Ronald Roepman, Orly Elpeleg, Heymut Omran
Vydáno 2018Artigo
Vyhledávací nástroje:
Související témata
Biology
Cilium
Gene
Genetics
Motile cilium
Phenotype
Bronchiectasis
Cell biology
Infertility
Internal medicine
Lung
Medicine
Missense mutation
Mucociliary clearance
Mutation
Pregnancy
Primary ciliary dyskinesia
Anatomy
Bioinformatics
Ciliopathies
Compound heterozygosity
Disease
Environmental health
Flagellum
Intraflagellar transport
Male infertility
Motility
Mutant
Nonsense mutation
Pathology