Results
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41.
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Collecting clinical data in primary ciliary dyskinesia- challenges and opportunities. [electronic resource] by
- Amirav, Israel
- Roduta Roberts, Mary
- Mussaffi, Huda
- Mandelberg, Avigdor
- Roth, Yehudah
- Abitbul, Revital
- Luder, Anthony
- Blau, Hannah
- Alkrinawi, Soliman
- Aviram, Micha
- Ben-Ami, Marta
- Rotschild, Moshe
- Bentur, Lea
- Shoseyov, David
- Cohen-Cymberknoh, Malena
- Kerem, Eitan
- Avital, Avraham
- Springer, Chaim
- Hevroni, Avigdor
- Dabbah, Husein
- Elizur, Arnon
- Picard, Elie
- Goldberg, Shmuel
- Rivlin, Joseph
- Livnat, Galit
- Lavie, Moran
- Alias, Nael
- Soferman, Ruth
- Olbrich, Heike
- Raidt, Johanna
- Wallmeier, Julia
- Werner, Claudius
- Loges, Niki T
- Omran, Heymut
Publication details: F1000Research 2016
In:
F1000Research vol. 5
Availability: No items available.
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42.
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Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility. [electronic resource] by
- Ta-Shma, Asaf
- Hjeij, Rim
- Perles, Zeev
- Dougherty, Gerard W
- Abu Zahira, Ibrahim
- Letteboer, Stef J F
- Antony, Dinu
- Darwish, Alaa
- Mans, Dorus A
- Spittler, Sabrina
- Edelbusch, Christine
- Cindrić, Sandra
- Nöthe-Menchen, Tabea
- Olbrich, Heike
- Stuhlmann, Friederike
- Aprea, Isabella
- Pennekamp, Petra
- Loges, Niki T
- Breuer, Oded
- Shaag, Avraham
- Rein, Azaria J J T
- Gulec, Elif Yilmaz
- Gezdirici, Alper
- Abitbul, Revital
- Elias, Nael
- Amirav, Israel
- Schmidts, Miriam
- Roepman, Ronald
- Elpeleg, Orly
- Omran, Heymut
Producer: 20190114
In:
PLoS genetics vol. 14
Availability: No items available.
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43.
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DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes. [electronic resource] by
- Dougherty, Gerard W
- Loges, Niki T
- Klinkenbusch, Judith A
- Olbrich, Heike
- Pennekamp, Petra
- Menchen, Tabea
- Raidt, Johanna
- Wallmeier, Julia
- Werner, Claudius
- Westermann, Cordula
- Ruckert, Christian
- Mirra, Virginia
- Hjeij, Rim
- Memari, Yasin
- Durbin, Richard
- Kolb-Kokocinski, Anja
- Praveen, Kavita
- Kashef, Mohammad A
- Kashef, Sara
- Eghtedari, Fardin
- Häffner, Karsten
- Valmari, Pekka
- Baktai, György
- Aviram, Micha
- Bentur, Lea
- Amirav, Israel
- Davis, Erica E
- Katsanis, Nicholas
- Brueckner, Martina
- Shaposhnykov, Artem
- Pigino, Gaia
- Dworniczak, Bernd
- Omran, Heymut
Producer: 20170630
In:
American journal of respiratory cell and molecular biology vol. 55
Availability: No items available.
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44.
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Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. [electronic resource] by
- Antony, Dinu
- Becker-Heck, Anita
- Zariwala, Maimoona A
- Schmidts, Miriam
- Onoufriadis, Alexandros
- Forouhan, Mitra
- Wilson, Robert
- Taylor-Cox, Theresa
- Dewar, Ann
- Jackson, Claire
- Goggin, Patricia
- Loges, Niki T
- Olbrich, Heike
- Jaspers, Martine
- Jorissen, Mark
- Leigh, Margaret W
- Wolf, Whitney E
- Daniels, M Leigh Anne
- Noone, Peadar G
- Ferkol, Thomas W
- Sagel, Scott D
- Rosenfeld, Margaret
- Rutman, Andrew
- Dixit, Abhijit
- O'Callaghan, Christopher
- Lucas, Jane S
- Hogg, Claire
- Scambler, Peter J
- Emes, Richard D
- Chung, Eddie M K
- Shoemark, Amelia
- Knowles, Michael R
- Omran, Heymut
- Mitchison, Hannah M
Producer: 20130812
In:
Human mutation vol. 34
Availability: No items available.
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45.
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CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation. [electronic resource] by
- Hjeij, Rim
- Onoufriadis, Alexandros
- Watson, Christopher M
- Slagle, Christopher E
- Klena, Nikolai T
- Dougherty, Gerard W
- Kurkowiak, Małgorzata
- Loges, Niki T
- Diggle, Christine P
- Morante, Nicholas F C
- Gabriel, George C
- Lemke, Kristi L
- Li, You
- Pennekamp, Petra
- Menchen, Tabea
- Konert, Franziska
- Marthin, June Kehlet
- Mans, Dorus A
- Letteboer, Stef J F
- Werner, Claudius
- Burgoyne, Thomas
- Westermann, Cordula
- Rutman, Andrew
- Carr, Ian M
- O'Callaghan, Christopher
- Moya, Eduardo
- Chung, Eddie M K
- Sheridan, Eamonn
- Nielsen, Kim G
- Roepman, Ronald
- Bartscherer, Kerstin
- Burdine, Rebecca D
- Lo, Cecilia W
- Omran, Heymut
- Mitchison, Hannah M
Producer: 20141030
In:
American journal of human genetics vol. 95
Availability: No items available.
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46.
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CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. [electronic resource] by
- Merveille, Anne-Christine
- Davis, Erica E
- Becker-Heck, Anita
- Legendre, Marie
- Amirav, Israel
- Bataille, Géraldine
- Belmont, John
- Beydon, Nicole
- Billen, Frédéric
- Clément, Annick
- Clercx, Cécile
- Coste, André
- Crosbie, Rachelle
- de Blic, Jacques
- Deleuze, Stephane
- Duquesnoy, Philippe
- Escalier, Denise
- Escudier, Estelle
- Fliegauf, Manfred
- Horvath, Judith
- Hill, Kent
- Jorissen, Mark
- Just, Jocelyne
- Kispert, Andreas
- Lathrop, Mark
- Loges, Niki Tomas
- Marthin, June K
- Momozawa, Yukihide
- Montantin, Guy
- Nielsen, Kim G
- Olbrich, Heike
- Papon, Jean-François
- Rayet, Isabelle
- Roger, Gilles
- Schmidts, Miriam
- Tenreiro, Henrique
- Towbin, Jeffrey A
- Zelenika, Diana
- Zentgraf, Hanswalter
- Georges, Michel
- Lequarré, Anne-Sophie
- Katsanis, Nicholas
- Omran, Heymut
- Amselem, Serge
Producer: 20110222
In:
Nature genetics vol. 43
Availability: No items available.
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47.
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DYX1C1 is required for axonemal dynein assembly and ciliary motility. [electronic resource] by
- Tarkar, Aarti
- Loges, Niki T
- Slagle, Christopher E
- Francis, Richard
- Dougherty, Gerard W
- Tamayo, Joel V
- Shook, Brett
- Cantino, Marie
- Schwartz, Daniel
- Jahnke, Charlotte
- Olbrich, Heike
- Werner, Claudius
- Raidt, Johanna
- Pennekamp, Petra
- Abouhamed, Marouan
- Hjeij, Rim
- Köhler, Gabriele
- Griese, Matthias
- Li, You
- Lemke, Kristi
- Klena, Nikolas
- Liu, Xiaoqin
- Gabriel, George
- Tobita, Kimimasa
- Jaspers, Martine
- Morgan, Lucy C
- Shapiro, Adam J
- Letteboer, Stef J F
- Mans, Dorus A
- Carson, Johnny L
- Leigh, Margaret W
- Wolf, Whitney E
- Chen, Serafine
- Lucas, Jane S
- Onoufriadis, Alexandros
- Plagnol, Vincent
- Schmidts, Miriam
- Boldt, Karsten
- Roepman, Ronald
- Zariwala, Maimoona A
- Lo, Cecilia W
- Mitchison, Hannah M
- Knowles, Michael R
- Burdine, Rebecca D
- Loturco, Joseph J
- Omran, Heymut
Producer: 20131126
In:
Nature genetics vol. 45
Availability: No items available.
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48.
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Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. [electronic resource] by
- Knowles, Michael R
- Ostrowski, Lawrence E
- Loges, Niki T
- Hurd, Toby
- Leigh, Margaret W
- Huang, Lu
- Wolf, Whitney E
- Carson, Johnny L
- Hazucha, Milan J
- Yin, Weining
- Davis, Stephanie D
- Dell, Sharon D
- Ferkol, Thomas W
- Sagel, Scott D
- Olivier, Kenneth N
- Jahnke, Charlotte
- Olbrich, Heike
- Werner, Claudius
- Raidt, Johanna
- Wallmeier, Julia
- Pennekamp, Petra
- Dougherty, Gerard W
- Hjeij, Rim
- Gee, Heon Yung
- Otto, Edgar A
- Halbritter, Jan
- Chaki, Moumita
- Diaz, Katrina A
- Braun, Daniela A
- Porath, Jonathan D
- Schueler, Markus
- Baktai, György
- Griese, Matthias
- Turner, Emily H
- Lewis, Alexandra P
- Bamshad, Michael J
- Nickerson, Deborah A
- Hildebrandt, Friedhelm
- Shendure, Jay
- Omran, Heymut
- Zariwala, Maimoona A
Producer: 20140219
In:
American journal of human genetics vol. 93
Availability: No items available.
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49.
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Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. [electronic resource] by
- Austin-Tse, Christina
- Halbritter, Jan
- Zariwala, Maimoona A
- Gilberti, Renée M
- Gee, Heon Yung
- Hellman, Nathan
- Pathak, Narendra
- Liu, Yan
- Panizzi, Jennifer R
- Patel-King, Ramila S
- Tritschler, Douglas
- Bower, Raqual
- O'Toole, Eileen
- Porath, Jonathan D
- Hurd, Toby W
- Chaki, Moumita
- Diaz, Katrina A
- Kohl, Stefan
- Lovric, Svjetlana
- Hwang, Daw-Yang
- Braun, Daniela A
- Schueler, Markus
- Airik, Rannar
- Otto, Edgar A
- Leigh, Margaret W
- Noone, Peadar G
- Carson, Johnny L
- Davis, Stephanie D
- Pittman, Jessica E
- Ferkol, Thomas W
- Atkinson, Jeffry J
- Olivier, Kenneth N
- Sagel, Scott D
- Dell, Sharon D
- Rosenfeld, Margaret
- Milla, Carlos E
- Loges, Niki T
- Omran, Heymut
- Porter, Mary E
- King, Stephen M
- Knowles, Michael R
- Drummond, Iain A
- Hildebrandt, Friedhelm
Producer: 20140219
In:
American journal of human genetics vol. 93
Availability: No items available.
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50.
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ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. [electronic resource] by
- Zariwala, Maimoona A
- Gee, Heon Yung
- Kurkowiak, Małgorzata
- Al-Mutairi, Dalal A
- Leigh, Margaret W
- Hurd, Toby W
- Hjeij, Rim
- Dell, Sharon D
- Chaki, Moumita
- Dougherty, Gerard W
- Adan, Mohamed
- Spear, Philip C
- Esteve-Rudd, Julian
- Loges, Niki T
- Rosenfeld, Margaret
- Diaz, Katrina A
- Olbrich, Heike
- Wolf, Whitney E
- Sheridan, Eamonn
- Batten, Trevor F C
- Halbritter, Jan
- Porath, Jonathan D
- Kohl, Stefan
- Lovric, Svjetlana
- Hwang, Daw-Yang
- Pittman, Jessica E
- Burns, Kimberlie A
- Ferkol, Thomas W
- Sagel, Scott D
- Olivier, Kenneth N
- Morgan, Lucy C
- Werner, Claudius
- Raidt, Johanna
- Pennekamp, Petra
- Sun, Zhaoxia
- Zhou, Weibin
- Airik, Rannar
- Natarajan, Sivakumar
- Allen, Susan J
- Amirav, Israel
- Wieczorek, Dagmar
- Landwehr, Kerstin
- Nielsen, Kim
- Schwerk, Nicolaus
- Sertic, Jadranka
- Köhler, Gabriele
- Washburn, Joseph
- Levy, Shawn
- Fan, Shuling
- Koerner-Rettberg, Cordula
- Amselem, Serge
- Williams, David S
- Mitchell, Brian J
- Drummond, Iain A
- Otto, Edgar A
- Omran, Heymut
- Knowles, Michael R
- Hildebrandt, Friedhelm
Producer: 20131217
In:
American journal of human genetics vol. 93
Availability: No items available.
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51.
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Abstracts of the 52nd Workshop for Pediatric Research : Frankfurt, Germany. 27-28 October 2016. [electronic resource] by
- van den Bruck, Rhea
- Weil, Patrick P
- Ziegenhals, Thomas
- Schreiner, Philipp
- Juranek, Stefan
- Gödde, Daniel
- Vogel, Silvia
- Schuster, Frauke
- Orth, Valerie
- Dörner, Johannes
- Pembaur, Daniel
- Röper, Meike
- Störkel, Stefan
- Zirngibl, Hubert
- Wirth, Stefan
- Jenke, Andreas C W
- Postberg, Jan
- Boy, Nikolas
- Heringer, Jana
- Haege, Gisela
- Glahn, Esther M
- Hoffmann, Georg F
- Garbade, Sven F
- Burgard, Peter
- Kölker, Stefan
- Chao, Cho-Ming
- Yahya, Faady
- Moiseenko, Alena
- Shrestha, Amit
- Ahmadvand, Negah
- Quantius, Jennifer
- Wilhelm, Jochen
- El-Agha, Elie
- Zimmer, Klaus-Peter
- Bellusci, Saverio
- Staufner, Christian
- Kölker, Stefan
- Prokisch, Holger
- Hoffmann, Georg F
- Seeliger, Stephan
- Müller, Matthias
- Hippe, Andreas
- Steinkraus, Henrik
- Wauer, Roland
- Lachmann, Burkhard
- Hofmann, Sigrun R
- Hedrich, Christian M
- Zierk, Jakob
- Arzideh, Farhad
- Haeckel, Rainer
- Rascher, Wolfgang
- Rauh, Manfred
- Metzler, Markus
- Thieme, Sebastian
- Bandoła, Joanna
- Richter, Cornelia
- Ryser, Martin
- Jamal, Arshad
- Ashton, Michelle P
- von Bonin, Malte
- Kuhn, Matthias
- Hedrich, Christian M
- Bonifacio, Ezio
- Berner, Reinhard
- Brenner, Sebastian
- Hammersen, Johanna
- Has, Cristina
- Naumann-Bartsch, Nora
- Stachel, Daniel
- Kiritsi, Dimitra
- Söder, Stephan
- Tardieu, Mathilde
- Metzler, Markus
- Bruckner-Tuderman, Leena
- Schneider, Holm
- Bohne, F
- Langer, D
- Cencic, R
- Eggermann, T
- Zechner, U
- Pelletier, J
- Zepp, F
- Enklaar, T
- Prawitt, D
- Pech, Martin
- Weckmann, Markus
- Heinsen, Femke-Anouska
- Franke, Andre
- Happle, Christine
- Dittrich, Anna-Maria
- Hansen, Gesine
- Fuchs, Oliver
- von Mutius, Erika
- Oliver, Brian G
- Kopp, Matthias V
- Paret, Claudia
- Russo, Alexandra
- Theruvath, Johanna
- Keller, Bettina
- El Malki, Khalifa
- Lehmann, Nadine
- Wingerter, Arthur
- Neu, Marie A
- Aslihan, Gerhold-Ay
- Wagner, Wolfgang
- Sommer, Clemens
- Pietsch, Torsten
- Seidmann, Larissa
- Faber, Jörg
- Schreiner, Felix
- Ackermann, Merle
- Michalik, Michael
- Rother, Eva
- Bilkei-Gorzo, Andras
- Racz, Ildiko
- Bindila, Laura
- Lutz, Beat
- Dötsch, Jörg
- Zimmer, Andreas
- Woelfle, Joachim
- Fischer, Hendrik S
- Ullrich, Tim L
- Bührer, Christoph
- Czernik, Christoph
- Schmalisch, Gerd
- Stein, Robert
- Hofmann, Sigrun R
- Hagenbuchner, Judith
- Kiechl-Kohlendorfer, Ursula
- Obexer, Petra
- Ausserlechner, Michael J
- Loges, Niki T
- Frommer, Adrien Tobias
- Wallmeier, Julia
- Omran, Heymut
- Öner-Sieben, Soner
- Gimpfl, Martina
- Rozman, Jan
- Irmler, Martin
- Beckers, Johannes
- De Angelis, Martin Hrabe
- Roscher, Adelbert
- Wolf, Eckhard
- Ensenauer, Regina
- Nemes, Karolina
- Frühwald, Michael
- Hasselblatt, Martin
- Siebert, Reiner
- Kordes, Uwe
- Kool, Marcel
- Wang, Haicui
- Hardy, Holly
- Refai, Osama
- Barwick, Katy E S
- Zimmerman, Holly H
- Weis, Joachim
- Baple, Emma L
- Crosby, Andrew H
- Cirak, Sebahattin
- Hellmuth, C
- Uhl, O
- Standl, M
- Heinrich, J
- Thiering, E
- Koletzko, B
- Blümel, Lena
- Kerl, Kornelius
- Picard, Daniel
- Frühwald, Michael C
- Liebau, Max C
- Reifenberger, Guido
- Borkhardt, Arndt
- Hasselblatt, Martin
- Remke, Marc
- Tews, D
- Wabitsch, M
- Fischer-Posovszky, P
- Westhoff, Mike-Andrew
- Nonnenmacher, Lisa
- Langhans, Julia
- Schneele, Lukas
- Trenkler, Nancy
- Debatin, Klaus-Michael
Publication details: Molecular and cellular pediatrics May 2017
In:
Molecular and cellular pediatrics vol. 4
Availability: No items available.
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