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21.
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Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans. [electronic resource] by
- Wei, Wei
- Pagnamenta, Alistair T
- Gleadall, Nicholas
- Sanchis-Juan, Alba
- Stephens, Jonathan
- Broxholme, John
- Tuna, Salih
- Odhams, Christopher A
- Fratter, Carl
- Turro, Ernest
- Caulfield, Mark J
- Taylor, Jenny C
- Rahman, Shamima
- Chinnery, Patrick F
Producer: 20200727
In:
Nature communications vol. 11
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A multicenter validation of recombinant β3 integrin-coupled beads to detect human platelet antigen-1 alloantibodies in 498 cases of fetomaternal alloimmune thrombocytopenia. [electronic resource] by
- Chong, Winnie
- Turro, Ernest
- Metcalfe, Paul
- Yusuf, Rizwan
- Mérieux, Yves
- Rigal, Dominique
- Porcelijn, Leendert
- Huiskes, Elly
- Lucas, Geoff
- Bendukidze, Nina
- Green, Ann
- Fontão-Wendel, Rita
- Husebekk, Anne
- Dixey, Jonathan
- Guest, Alan
- Mushens, Rosey
- Ouwehand, Willem H
- Navarrete, Cristina V
Producer: 20160314
In:
Transfusion vol. 55
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23.
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None [electronic resource] by
- Revel-Vilk, Shoshana
- Shai, Ela
- Turro, Ernest
- Jahshan, Nivin
- Hi-Am, Esti
- Spectre, Galia
- Daum, Hagit
- Kalish, Yossef
- Althaus, Karina
- Greinacher, Andreas
- Kaplinsky, Chaim
- Izraeli, Shai
- Mapeta, Rutendo
- Deevi, Sri V V
- Jarocha, Danuta
- Ouwehand, Willem H
- Downes, Kate
- Poncz, Mortimer
- Varon, David
- Lambert, Michele P
Producer: 20190716
In:
Blood vol. 132
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Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia. [electronic resource] by
- Bariana, Tadbir K
- Labarque, Veerle
- Heremans, Jessica
- Thys, Chantal
- De Reys, Mara
- Greene, Daniel
- Jenkins, Benjamin
- Grassi, Luigi
- Seyres, Denis
- Burden, Frances
- Whitehorn, Deborah
- Shamardina, Olga
- Papadia, Sofia
- Gomez, Keith
- BioResource, Nihr
- Van Geet, Chris
- Koulman, Albert
- Ouwehand, Willem H
- Ghevaert, Cedric
- Frontini, Mattia
- Turro, Ernest
- Freson, Kathleen
Producer: 20200520
In:
Haematologica vol. 104
Availability: No items available.
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25.
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A mutation of the human [electronic resource] by
- Berrou, Eliane
- Soukaseum, Christelle
- Favier, Rémi
- Adam, Frédéric
- Elaib, Ziane
- Kauskot, Alexandre
- Bordet, Jean-Claude
- Ballerini, Paola
- Loyau, Stephane
- Feng, Miao
- Dias, Karine
- Muheidli, Abbas
- Girault, Stephane
- Nurden, Alan T
- Turro, Ernest
- Ouwehand, Willem H
- Denis, Cécile V
- Jandrot-Perrus, Martine
- Rosa, Jean-Philippe
- Nurden, Paquita
- Bryckaert, Marijke
Producer: 20190729
In:
Blood vol. 132
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Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome. [electronic resource] by
- Heremans, Jessica
- Garcia-Perez, Josselyn E
- Turro, Ernest
- Schlenner, Susan M
- Casteels, Ingele
- Collin, Roxanne
- de Zegher, Francis
- Greene, Daniel
- Humblet-Baron, Stephanie
- Lesage, Sylvie
- Matthys, Patrick
- Penkett, Christopher J
- Put, Karen
- Stirrups, Kathleen
- Thys, Chantal
- Van Geet, Chris
- Van Nieuwenhove, Erika
- Wouters, Carine
- Meyts, Isabelle
- Freson, Kathleen
- Liston, Adrian
Producer: 20190819
In:
The Journal of allergy and clinical immunology vol. 142
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27.
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Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses. [electronic resource] by
- van Oorschot, Rinske
- Marneth, Anna E
- Bergevoet, Saskia M
- van Bergen, Maaike G J M
- Peerlinck, Kathelijne
- Lentaigne, Claire E
- Millar, Carolyn M
- Westbury, Sarah K
- Favier, Remi
- Erber, Wendy N
- Turro, Ernest
- Jansen, Joop H
- Ouwehand, Willem H
- McKinney, Harriet L
- Downes, Kate
- Freson, Kathleen
- van der Reijden, Bert A
Producer: 20200518
In:
Haematologica vol. 104
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28.
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Defects in TRPM7 channel function deregulate thrombopoiesis through altered cellular Mg(2+) homeostasis and cytoskeletal architecture. [electronic resource] by
- Stritt, Simon
- Nurden, Paquita
- Favier, Remi
- Favier, Marie
- Ferioli, Silvia
- Gotru, Sanjeev K
- van Eeuwijk, Judith M M
- Schulze, Harald
- Nurden, Alan T
- Lambert, Michele P
- Turro, Ernest
- Burger-Stritt, Stephanie
- Matsushita, Masayuki
- Mittermeier, Lorenz
- Ballerini, Paola
- Zierler, Susanna
- Laffan, Michael A
- Chubanov, Vladimir
- Gudermann, Thomas
- Nieswandt, Bernhard
- Braun, Attila
Producer: 20160829
In:
Nature communications vol. 7
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29.
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Expanded repertoire of [electronic resource] by
- Westbury, Sarah K
- Canault, Matthias
- Greene, Daniel
- Bermejo, Emilse
- Hanlon, Katharine
- Lambert, Michele P
- Millar, Carolyn M
- Nurden, Paquita
- Obaji, Samya G
- Revel-Vilk, Shoshana
- Van Geet, Chris
- Downes, Kate
- Papadia, Sofia
- Tuna, Salih
- Watt, Christopher
- Freson, Kathleen
- Laffan, Michael A
- Ouwehand, Willem H
- Alessi, Marie-Christine
- Turro, Ernest
- Mumford, Andrew D
Producer: 20170925
In:
Blood vol. 130
Availability: No items available.
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30.
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Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors. [electronic resource] by
- Poggi, Marjorie
- Canault, Matthias
- Favier, Marie
- Turro, Ernest
- Saultier, Paul
- Ghalloussi, Dorsaf
- Baccini, Veronique
- Vidal, Lea
- Mezzapesa, Anna
- Chelghoum, Nadjim
- Mohand-Oumoussa, Badreddine
- Falaise, Céline
- Favier, Rémi
- Ouwehand, Willem H
- Fiore, Mathieu
- Peiretti, Franck
- Morange, Pierre Emmanuel
- Saut, Noémie
- Bernot, Denis
- Greinacher, Andreas
- BioResource, Nihr
- Nurden, Alan T
- Nurden, Paquita
- Freson, Kathleen
- Trégouët, David-Alexandre
- Raslova, Hana
- Alessi, Marie-Christine
Producer: 20170707
In:
Haematologica vol. 102
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31.
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Identification of a homozygous recessive variant in [electronic resource] by
- Chan, Melissa V
- Hayman, Melissa A
- Sivapalaratnam, Suthesh
- Crescente, Marilena
- Allan, Harriet E
- Edin, Matthew L
- Zeldin, Darryl C
- Milne, Ginger L
- Stephens, Jonathan
- Greene, Daniel
- Hanif, Moghees
- O'Donnell, Valerie B
- Dong, Liang
- Malkowski, Michael G
- Lentaigne, Claire
- Wedderburn, Katherine
- Stubbs, Matthew
- Downes, Kate
- Ouwehand, Willem H
- Turro, Ernest
- BioResource, Nihr
- Hart, Daniel P
- Freson, Kathleen
- Laffan, Michael A
- Warner, Timothy D
Producer: 20210527
In:
Haematologica vol. 106
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32.
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Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia. [electronic resource] by
- Sivapalaratnam, Suthesh
- Westbury, Sarah K
- Stephens, Jonathan C
- Greene, Daniel
- Downes, Kate
- Kelly, Anne M
- Lentaigne, Claire
- Astle, William J
- Huizinga, Eric G
- Nurden, Paquita
- Papadia, Sofia
- Peerlinck, Kathelijne
- Penkett, Christopher J
- Perry, David J
- Roughley, Catherine
- Simeoni, Ilenia
- Stirrups, Kathleen
- Hart, Daniel P
- Tait, R Campbell
- Mumford, Andrew D
- Laffan, Michael A
- Freson, Kathleen
- Ouwehand, Willem H
- Kunishima, Shinji
- Turro, Ernest
Producer: 20170814
In:
Blood vol. 129
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33.
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Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice. [electronic resource] by
- Hofmann, Inga
- Geer, Mitchell J
- Vögtle, Timo
- Crispin, Andrew
- Campagna, Dean R
- Barr, Alastair
- Calicchio, Monica L
- Heising, Silke
- van Geffen, Johanna P
- Kuijpers, Marijke J E
- Heemskerk, Johan W M
- Eble, Johannes A
- Schmitz-Abe, Klaus
- Obeng, Esther A
- Douglas, Michael
- Freson, Kathleen
- Pondarré, Corinne
- Favier, Rémi
- Jarvis, Gavin E
- Markianos, Kyriacos
- Turro, Ernest
- Ouwehand, Willem H
- Mazharian, Alexandra
- Fleming, Mark D
- Senis, Yotis A
Producer: 20190729
In:
Blood vol. 132
Availability: No items available.
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34.
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Germline mutations in the transcription factor IKZF5 cause thrombocytopenia. [electronic resource] by
- Lentaigne, Claire
- Greene, Daniel
- Sivapalaratnam, Suthesh
- Favier, Remi
- Seyres, Denis
- Thys, Chantal
- Grassi, Luigi
- Mangles, Sarah
- Sibson, Keith
- Stubbs, Matthew
- Burden, Frances
- Bordet, Jean-Claude
- Armari-Alla, Corinne
- Erber, Wendy
- Farrow, Samantha
- Gleadall, Nicholas
- Gomez, Keith
- Megy, Karyn
- Papadia, Sofia
- Penkett, Christopher J
- Sims, Matthew C
- Stefanucci, Luca
- Stephens, Jonathan C
- Read, Randy J
- Stirrups, Kathleen E
- Ouwehand, Willem H
- Laffan, Michael A
- Frontini, Mattia
- Freson, Kathleen
- Turro, Ernest
Producer: 20200317
In:
Blood vol. 134
Availability: No items available.
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35.
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Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia. [electronic resource] by
- Pleines, Irina
- Woods, Joanne
- Chappaz, Stephane
- Kew, Verity
- Foad, Nicola
- Ballester-Beltrán, José
- Aurbach, Katja
- Lincetto, Chiara
- Lane, Rachael M
- Schevzov, Galina
- Alexander, Warren S
- Hilton, Douglas J
- Astle, William J
- Downes, Kate
- Nurden, Paquita
- Westbury, Sarah K
- Mumford, Andrew D
- Obaji, Samya G
- Collins, Peter W
- Delerue, Fabien
- Ittner, Lars M
- Bryce, Nicole S
- Holliday, Mira
- Lucas, Christine A
- Hardeman, Edna C
- Ouwehand, Willem H
- Gunning, Peter W
- Turro, Ernest
- Tijssen, Marloes R
- Kile, Benjamin T
Producer: 20170908
In:
The Journal of clinical investigation vol. 127
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36.
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Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans. [electronic resource] by
- Tuijnenburg, Paul
- Lango Allen, Hana
- Burns, Siobhan O
- Greene, Daniel
- Jansen, Machiel H
- Staples, Emily
- Stephens, Jonathan
- Carss, Keren J
- Biasci, Daniele
- Baxendale, Helen
- Thomas, Moira
- Chandra, Anita
- Kiani-Alikhan, Sorena
- Longhurst, Hilary J
- Seneviratne, Suranjith L
- Oksenhendler, Eric
- Simeoni, Ilenia
- de Bree, Godelieve J
- Tool, Anton T J
- van Leeuwen, Ester M M
- Ebberink, Eduard H T M
- Meijer, Alexander B
- Tuna, Salih
- Whitehorn, Deborah
- Brown, Matthew
- Turro, Ernest
- Thrasher, Adrian J
- Smith, Kenneth G C
- Thaventhiran, James E
- Kuijpers, Taco W
Producer: 20190916
In:
The Journal of allergy and clinical immunology vol. 142
Availability: No items available.
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37.
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Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. [electronic resource] by
- Downes, Kate
- Megy, Karyn
- Duarte, Daniel
- Vries, Minka
- Gebhart, Johanna
- Hofer, Stefanie
- Shamardina, Olga
- Deevi, Sri V V
- Stephens, Jonathan
- Mapeta, Rutendo
- Tuna, Salih
- Al Hasso, Namir
- Besser, Martin W
- Cooper, Nichola
- Daugherty, Louise
- Gleadall, Nick
- Greene, Daniel
- Haimel, Matthias
- Martin, Howard
- Papadia, Sofia
- Revel-Vilk, Shoshana
- Sivapalaratnam, Suthesh
- Symington, Emily
- Thomas, Will
- Thys, Chantal
- Tolios, Alexander
- Penkett, Christopher J
- Ouwehand, Willem H
- Abbs, Stephen
- Laffan, Michael A
- Turro, Ernest
- Simeoni, Ilenia
- Mumford, Andrew D
- Henskens, Yvonne M C
- Pabinger, Ingrid
- Gomez, Keith
- Freson, Kathleen
Producer: 20200317
In:
Blood vol. 134
Availability: No items available.
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38.
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Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants. [electronic resource] by
- Bury, Loredana
- Megy, Karyn
- Stephens, Jonathan C
- Grassi, Luigi
- Greene, Daniel
- Gleadall, Nick
- Althaus, Karina
- Allsup, David
- Bariana, Tadbir K
- Bonduel, Mariana
- Butta, Nora V
- Collins, Peter
- Curry, Nicola
- Deevi, Sri V V
- Downes, Kate
- Duarte, Daniel
- Elliott, Kim
- Falcinelli, Emanuela
- Furie, Bruce
- Keeling, David
- Lambert, Michele P
- Linger, Rachel
- Mangles, Sarah
- Mapeta, Rutendo
- Millar, Carolyn M
- Penkett, Christopher
- Perry, David J
- Stirrups, Kathleen E
- Turro, Ernest
- Westbury, Sarah K
- Wu, John
- BioResource, Nihr
- Gomez, Keith
- Freson, Kathleen
- Ouwehand, Willem H
- Gresele, Paolo
- Simeoni, Ilenia
Producer: 20210519
In:
Human mutation vol. 41
Availability: No items available.
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39.
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The South Asian genome. [electronic resource] by
- Chambers, John C
- Abbott, James
- Zhang, Weihua
- Turro, Ernest
- Scott, William R
- Tan, Sian-Tsung
- Afzal, Uzma
- Afaq, Saima
- Loh, Marie
- Lehne, Benjamin
- O'Reilly, Paul
- Gaulton, Kyle J
- Pearson, Richard D
- Li, Xinzhong
- Lavery, Anita
- Vandrovcova, Jana
- Wass, Mark N
- Miller, Kathryn
- Sehmi, Joban
- Oozageer, Laticia
- Kooner, Ishminder K
- Al-Hussaini, Abtehale
- Mills, Rebecca
- Grewal, Jagvir
- Panoulas, Vasileios
- Lewin, Alexandra M
- Northwood, Korrinne
- Wander, Gurpreet S
- Geoghegan, Frank
- Li, Yingrui
- Wang, Jun
- Aitman, Timothy J
- McCarthy, Mark I
- Scott, James
- Butcher, Sarah
- Elliott, Paul
- Kooner, Jaspal S
Producer: 20150423
In:
PloS one vol. 9
Availability: No items available.
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40.
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Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses. [electronic resource] by
- Spencer, Sarah
- Köstel Bal, Sevgi
- Egner, William
- Lango Allen, Hana
- Raza, Syed I
- Ma, Chi A
- Gürel, Meltem
- Zhang, Yuan
- Sun, Guangping
- Sabroe, Ruth A
- Greene, Daniel
- Rae, William
- Shahin, Tala
- Kania, Katarzyna
- Ardy, Rico Chandra
- Thian, Marini
- Staples, Emily
- Pecchia-Bekkum, Annika
- Worrall, William P M
- Stephens, Jonathan
- Brown, Matthew
- Tuna, Salih
- York, Melanie
- Shackley, Fiona
- Kerrin, Diarmuid
- Sargur, Ravishankar
- Condliffe, Alison
- Tipu, Hamid Nawaz
- Kuehn, Hye Sun
- Rosenzweig, Sergio D
- Turro, Ernest
- Tavaré, Simon
- Thrasher, Adrian J
- Jodrell, Duncan Ian
- Smith, Kenneth G C
- Boztug, Kaan
- Milner, Joshua D
- Thaventhiran, James E D
Producer: 20200610
In:
The Journal of experimental medicine vol. 216
Availability: No items available.
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