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Clinical features and management of children with primary ciliary dyskinesia in England. [electronic resource] by
- Rubbo, Bruna
- Best, Sunayna
- Hirst, Robert Anthony
- Shoemark, Amelia
- Goggin, Patricia
- Carr, Siobhan B
- Chetcuti, Philip
- Hogg, Claire
- Kenia, Priti
- Lucas, Jane S
- Moya, Eduardo
- Narayanan, Manjith
- O'Callaghan, Christopher
- Williamson, Michael
- Walker, Woolf Theodore
Producer: 20201019
In:
Archives of disease in childhood vol. 105
Availability: No items available.
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7.
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Imaging Lung Function Abnormalities in Primary Ciliary Dyskinesia Using Hyperpolarized Gas Ventilation MRI. [electronic resource] by
- Smith, Laurie J
- West, Noreen
- Hughes, David
- Marshall, Helen
- Johns, Christopher S
- Stewart, Neil J
- Chan, Ho-Fung
- Rao, Madhwesha
- Capener, David J
- Bray, Jody
- Collier, Guilhem J
- Hughes, Paul J C
- Norquay, Graham
- Schofield, Lynne
- Chetcuti, Phil
- Moya, Eduardo
- Wild, Jim M
Producer: 20191118
In:
Annals of the American Thoracic Society vol. 15
Availability: No items available.
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8.
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Saline in acute bronchiolitis RCT and economic evaluation: hypertonic saline in acute bronchiolitis - randomised controlled trial and systematic review. [electronic resource] by
- Everard, Mark L
- Hind, Daniel
- Ugonna, Kelechi
- Freeman, Jennifer
- Bradburn, Mike
- Dixon, Simon
- Maguire, Chin
- Cantrill, Hannah
- Alexander, John
- Lenney, Warren
- McNamara, Paul
- Elphick, Heather
- Chetcuti, Philip Aj
- Moya, Eduardo F
- Powell, Colin
- Garside, Jonathan P
- Chadha, Lavleen Kumar
- Kurian, Matthew
- Lehal, Ravinderjit S
- MacFarlane, Peter I
- Cooper, Cindy L
- Cross, Elizabeth
Producer: 20160526
In:
Health technology assessment (Winchester, England) vol. 19
Availability: No items available.
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9.
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Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects. [electronic resource] by
- Bonnefoy, Serge
- Watson, Christopher M
- Kernohan, Kristin D
- Lemos, Moara
- Hutchinson, Sebastian
- Poulter, James A
- Crinnion, Laura A
- Berry, Ian
- Simmonds, Jennifer
- Vasudevan, Pradeep
- O'Callaghan, Chris
- Hirst, Robert A
- Rutman, Andrew
- Huang, Lijia
- Hartley, Taila
- Grynspan, David
- Moya, Eduardo
- Li, Chunmei
- Carr, Ian M
- Bonthron, David T
- Leroux, Michel
- Boycott, Kym M
- Bastin, Philippe
- Sheridan, Eamonn G
Producer: 20190514
In:
American journal of human genetics vol. 103
Availability: No items available.
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10.
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MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia. [electronic resource] by
- Boon, Mieke
- Wallmeier, Julia
- Ma, Lina
- Loges, Niki Tomas
- Jaspers, Martine
- Olbrich, Heike
- Dougherty, Gerard W
- Raidt, Johanna
- Werner, Claudius
- Amirav, Israel
- Hevroni, Avigdor
- Abitbul, Revital
- Avital, Avraham
- Soferman, Ruth
- Wessels, Marja
- O'Callaghan, Christopher
- Chung, Eddie M K
- Rutman, Andrew
- Hirst, Robert A
- Moya, Eduardo
- Mitchison, Hannah M
- Van Daele, Sabine
- De Boeck, Kris
- Jorissen, Mark
- Kintner, Chris
- Cuppens, Harry
- Omran, Heymut
Producer: 20160426
In:
Nature communications vol. 5
Availability: No items available.
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11.
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DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport. [electronic resource] by
- Hartill, Verity L
- van de Hoek, Glenn
- Patel, Mitali P
- Little, Rosie
- Watson, Christopher M
- Berry, Ian R
- Shoemark, Amelia
- Abdelmottaleb, Dina
- Parkes, Emma
- Bacchelli, Chiara
- Szymanska, Katarzyna
- Knoers, Nine V
- Scambler, Peter J
- Ueffing, Marius
- Boldt, Karsten
- Yates, Robert
- Winyard, Paul J
- Adler, Beryl
- Moya, Eduardo
- Hattingh, Louise
- Shenoy, Anil
- Hogg, Claire
- Sheridan, Eamonn
- Roepman, Ronald
- Norris, Dominic
- Mitchison, Hannah M
- Giles, Rachel H
- Johnson, Colin A
Producer: 20190107
In:
Human molecular genetics vol. 27
Availability: No items available.
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12.
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Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort. [electronic resource] by
- Fassad, Mahmoud R
- Patel, Mitali P
- Shoemark, Amelia
- Cullup, Thomas
- Hayward, Jane
- Dixon, Mellisa
- Rogers, Andrew V
- Ollosson, Sarah
- Jackson, Claire
- Goggin, Patricia
- Hirst, Robert A
- Rutman, Andrew
- Thompson, James
- Jenkins, Lucy
- Aurora, Paul
- Moya, Eduardo
- Chetcuti, Philip
- O'Callaghan, Chris
- Morris-Rosendahl, Deborah J
- Watson, Christopher M
- Wilson, Robert
- Carr, Siobhan
- Walker, Woolf
- Pitno, Andreia
- Lopes, Susana
- Morsy, Heba
- Shoman, Walaa
- Pereira, Luisa
- Constant, Carolina
- Loebinger, Michael R
- Chung, Eddie M K
- Kenia, Priti
- Rumman, Nisreen
- Fasseeh, Nader
- Lucas, Jane S
- Hogg, Claire
- Mitchison, Hannah M
Producer: 20210611
In:
Journal of medical genetics vol. 57
Availability: No items available.
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13.
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High prevalence of [electronic resource] by
- Shoemark, Amelia
- Moya, Eduardo
- Hirst, Robert A
- Patel, Mitali P
- Robson, Evelyn A
- Hayward, Jane
- Scully, Juliet
- Fassad, Mahmoud R
- Lamb, William
- Schmidts, Miriam
- Dixon, Mellisa
- Patel-King, Ramila S
- Rogers, Andrew V
- Rutman, Andrew
- Jackson, Claire L
- Goggin, Patricia
- Rubbo, Bruna
- Ollosson, Sarah
- Carr, Siobhán
- Walker, Woolf
- Adler, Beryl
- Loebinger, Michael R
- Wilson, Robert
- Bush, Andrew
- Williams, Hywel
- Boustred, Christopher
- Jenkins, Lucy
- Sheridan, Eamonn
- Chung, Eddie M K
- Watson, Christopher M
- Cullup, Thomas
- Lucas, Jane S
- Kenia, Priti
- O'Callaghan, Christopher
- King, Stephen M
- Hogg, Claire
- Mitchison, Hannah M
Producer: 20181022
In:
Thorax vol. 73
Availability: No items available.
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14.
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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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