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Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. [electronic resource] by
- Horani, Amjad
- Druley, Todd E
- Zariwala, Maimoona A
- Patel, Anand C
- Levinson, Benjamin T
- Van Arendonk, Laura G
- Thornton, Katherine C
- Giacalone, Joe C
- Albee, Alison J
- Wilson, Kate S
- Turner, Emily H
- Nickerson, Deborah A
- Shendure, Jay
- Bayly, Philip V
- Leigh, Margaret W
- Knowles, Michael R
- Brody, Steven L
- Dutcher, Susan K
- Ferkol, Thomas W
Producer: 20130317
In:
American journal of human genetics vol. 91
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202.
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Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. [electronic resource] by
- Schwabe, Georg C
- Hoffmann, Katrin
- Loges, Niki Tomas
- Birker, Daniel
- Rossier, Colette
- de Santi, Margherita M
- Olbrich, Heike
- Fliegauf, Manfred
- Failly, Mike
- Liebers, Uta
- Collura, Mirella
- Gaedicke, Gerhard
- Mundlos, Stefan
- Wahn, Ulrich
- Blouin, Jean-Louis
- Niggemann, Bodo
- Omran, Heymut
- Antonarakis, Stylianos E
- Bartoloni, Lucia
Producer: 20080207
In:
Human mutation vol. 29
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206.
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207.
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Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES). [electronic resource] by
- Leung, Gordon K C
- Mak, Christopher C Y
- Fung, Jasmine L F
- Wong, Wilfred H S
- Tsang, Mandy H Y
- Yu, Mullin H C
- Pei, Steven L C
- Yeung, K S
- Mok, Gary T K
- Lee, C P
- Hui, Amelia P W
- Tang, Mary H Y
- Chan, Kelvin Y K
- Liu, Anthony P Y
- Yang, Wanling
- Sham, P C
- Kan, Anita S Y
- Chung, Brian H Y
Producer: 20190725
In:
BMC medical genomics vol. 11
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208.
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209.
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Genomic profiling supports the diagnosis of primary ciliary dyskinesia and reveals novel candidate genes and genetic variants. [electronic resource] by
- Andjelkovic, Marina
- Minic, Predrag
- Vreca, Misa
- Stojiljkovic, Maja
- Skakic, Anita
- Sovtic, Aleksandar
- Rodic, Milan
- Skodric-Trifunovic, Vesna
- Maric, Nina
- Visekruna, Jelena
- Spasovski, Vesna
- Pavlovic, Sonja
Producer: 20190329
In:
PloS one vol. 13
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211.
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The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants. [electronic resource] by
- Rio-Machin, Ana
- Vulliamy, Tom
- Hug, Nele
- Walne, Amanda
- Tawana, Kiran
- Cardoso, Shirleny
- Ellison, Alicia
- Pontikos, Nikolas
- Wang, Jun
- Tummala, Hemanth
- Al Seraihi, Ahad Fahad H
- Alnajar, Jenna
- Bewicke-Copley, Findlay
- Armes, Hannah
- Barnett, Michael
- Bloor, Adrian
- Bödör, Csaba
- Bowen, David
- Fenaux, Pierre
- Green, Andrew
- Hallahan, Andrew
- Hjorth-Hansen, Henrik
- Hossain, Upal
- Killick, Sally
- Lawson, Sarah
- Layton, Mark
- Male, Alison M
- Marsh, Judith
- Mehta, Priyanka
- Mous, Rogier
- Nomdedéu, Josep F
- Owen, Carolyn
- Pavlu, Jiri
- Payne, Elspeth M
- Protheroe, Rachel E
- Preudhomme, Claude
- Pujol-Moix, Nuria
- Renneville, Aline
- Russell, Nigel
- Saggar, Anand
- Sciuccati, Gabriela
- Taussig, David
- Toze, Cynthia L
- Uyttebroeck, Anne
- Vandenberghe, Peter
- Schlegelberger, Brigitte
- Ripperger, Tim
- Steinemann, Doris
- Wu, John
- Mason, Joanne
- Page, Paula
- Akiki, Susanna
- Reay, Kim
- Cavenagh, Jamie D
- Plagnol, Vincent
- Caceres, Javier F
- Fitzgibbon, Jude
- Dokal, Inderjeet
Producer: 20200522
In:
Nature communications vol. 11
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212.
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Education influences the association between genetic variants and refractive error: a meta-analysis of five Singapore studies. [electronic resource] by
- Fan, Qiao
- Wojciechowski, Robert
- Kamran Ikram, M
- Cheng, Ching-Yu
- Chen, Peng
- Zhou, Xin
- Pan, Chen-Wei
- Khor, Chiea-Chuen
- Tai, E-Shyong
- Aung, Tin
- Wong, Tien-Yin
- Teo, Yik-Ying
- Saw, Seang-Mei
Producer: 20140805
In:
Human molecular genetics vol. 23
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213.
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Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia. [electronic resource] by
- Blanchon, Sylvain
- Legendre, Marie
- Bottier, Mathieu
- Tamalet, Aline
- Montantin, Guy
- Collot, Nathalie
- Faucon, Catherine
- Dastot, Florence
- Copin, Bruno
- Clement, Annick
- Filoche, Marcel
- Coste, André
- Amselem, Serge
- Escudier, Estelle
- Papon, Jean-Francois
- Louis, Bruno
Producer: 20210204
In:
Journal of medical genetics vol. 57
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214.
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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
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215.
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Interaction between the DNAH9 gene and early smoke exposure in bronchial hyperresponsiveness. [electronic resource] by
- Dizier, Marie-Hélène
- Nadif, Rachel
- Margaritte-Jeannin, Patricia
- Barton, Sheila J
- Sarnowski, Chloé
- Gagné-Ouellet, Valérie
- Brossard, Myriam
- Lavielle, Nolwenn
- Just, Jocelyne
- Lathrop, Mark
- Holloway, John W
- Laprise, Catherine
- Bouzigon, Emmanuelle
- Demenais, Florence
Producer: 20170209
In:
The European respiratory journal vol. 47
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216.
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C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia. [electronic resource] by
- Fassad, Mahmoud R
- Shoemark, Amelia
- le Borgne, Pierrick
- Koll, France
- Patel, Mitali
- Dixon, Mellisa
- Hayward, Jane
- Richardson, Charlotte
- Frost, Emily
- Jenkins, Lucy
- Cullup, Thomas
- Chung, Eddie M K
- Lemullois, Michel
- Aubusson-Fleury, Anne
- Hogg, Claire
- Mitchell, David R
- Tassin, Anne-Marie
- Mitchison, Hannah M
Producer: 20181211
In:
American journal of human genetics vol. 102
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217.
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218.
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High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy. [electronic resource] by
- Nakhleh, Nader
- Francis, Richard
- Giese, Rachel A
- Tian, Xin
- Li, You
- Zariwala, Maimoona A
- Yagi, Hisato
- Khalifa, Omar
- Kureshi, Safina
- Chatterjee, Bishwanath
- Sabol, Steven L
- Swisher, Matthew
- Connelly, Patricia S
- Daniels, Mathew P
- Srinivasan, Ashok
- Kuehl, Karen
- Kravitz, Nadav
- Burns, Kimberlie
- Sami, Iman
- Omran, Heymut
- Barmada, Michael
- Olivier, Kenneth
- Chawla, Kunal K
- Leigh, Margaret
- Jonas, Richard
- Knowles, Michael
- Leatherbury, Linda
- Lo, Cecilia W
Producer: 20120913
In:
Circulation vol. 125
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219.
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Interactive effect between ATPase-related genes and early-life tobacco smoke exposure on bronchial hyper-responsiveness detected in asthma-ascertained families. [electronic resource] by
- Dizier, Marie-Hélène
- Margaritte-Jeannin, Patricia
- Pain, Lucile
- Sarnowski, Chloé
- Brossard, Myriam
- Mohamdi, Hamida
- Lavielle, Nolwenn
- Babron, Marie-Claude C
- Just, Jocelyne
- Lathrop, Mark
- Laprise, Catherine
- Bouzigon, Emmanuelle
- Demenais, Florence
- Nadif, Rachel
Producer: 20190515
In:
Thorax vol. 74
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220.
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