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4681.
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Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. [electronic resource] by
- Rainger, Joe
- Pehlivan, Davut
- Johansson, Stefan
- Bengani, Hemant
- Sanchez-Pulido, Luis
- Williamson, Kathleen A
- Ture, Mehmet
- Barker, Heather
- Rosendahl, Karen
- Spranger, Jürgen
- Horn, Denise
- Meynert, Alison
- Floyd, James A B
- Prescott, Trine
- Anderson, Carl A
- Rainger, Jacqueline K
- Karaca, Ender
- Gonzaga-Jauregui, Claudia
- Jhangiani, Shalini
- Muzny, Donna M
- Seawright, Anne
- Soares, Dinesh C
- Kharbanda, Mira
- Murday, Victoria
- Finch, Andrew
- Gibbs, Richard A
- van Heyningen, Veronica
- Taylor, Martin S
- Yakut, Tahsin
- Knappskog, Per M
- Hurles, Matthew E
- Ponting, Chris P
- Lupski, James R
- Houge, Gunnar
- FitzPatrick, David R
Producer: 20140729
In:
American journal of human genetics vol. 94
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4682.
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Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. [electronic resource] by
- Schmidts, Miriam
- Vodopiutz, Julia
- Christou-Savina, Sonia
- Cortés, Claudio R
- McInerney-Leo, Aideen M
- Emes, Richard D
- Arts, Heleen H
- Tüysüz, Beyhan
- D'Silva, Jason
- Leo, Paul J
- Giles, Tom C
- Oud, Machteld M
- Harris, Jessica A
- Koopmans, Marije
- Marshall, Mhairi
- Elçioglu, Nursel
- Kuechler, Alma
- Bockenhauer, Detlef
- Moore, Anthony T
- Wilson, Louise C
- Janecke, Andreas R
- Hurles, Matthew E
- Emmet, Warren
- Gardiner, Brooke
- Streubel, Berthold
- Dopita, Belinda
- Zankl, Andreas
- Kayserili, Hülya
- Scambler, Peter J
- Brown, Matthew A
- Beales, Philip L
- Wicking, Carol
- Duncan, Emma L
- Mitchison, Hannah M
Producer: 20131230
In:
American journal of human genetics vol. 93
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4683.
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Universal glove and gown use and acquisition of antibiotic-resistant bacteria in the ICU: a randomized trial. [electronic resource] by
- Harris, Anthony D
- Pineles, Lisa
- Belton, Beverly
- Johnson, J Kristie
- Shardell, Michelle
- Loeb, Mark
- Newhouse, Robin
- Dembry, Louise
- Braun, Barbara
- Perencevich, Eli N
- Hall, Kendall K
- Morgan, Daniel J
- Shahryar, Syed K
- Price, Connie S
- Gadbaw, Joseph J
- Drees, Marci
- Kett, Daniel H
- Muñoz-Price, L Silvia
- Jacob, Jesse T
- Herwaldt, Loreen A
- Sulis, Carol A
- Yokoe, Deborah S
- Maragakis, Lisa
- Lissauer, Matthew E
- Zervos, Marcus J
- Warren, David K
- Carver, Robin L
- Anderson, Deverick J
- Calfee, David P
- Bowling, Jason E
- Safdar, Nasia
Producer: 20131029
In:
JAMA vol. 310
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4684.
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IL-1/inhibitory κB kinase ε-induced glycolysis augment epithelial effector function and promote allergic airways disease. [electronic resource] by
- Qian, Xi
- Aboushousha, Reem
- van de Wetering, Cheryl
- Chia, Shi B
- Amiel, Eyal
- Schneider, Robert W
- van der Velden, Jos L J
- Lahue, Karolyn G
- Hoagland, Daisy A
- Casey, Dylan T
- Daphtary, Nirav
- Ather, Jennifer L
- Randall, Matthew J
- Aliyeva, Minara
- Black, Kendall E
- Chapman, David G
- Lundblad, Lennart K A
- McMillan, David H
- Dixon, Anne E
- Anathy, Vikas
- Irvin, Charles G
- Poynter, Matthew E
- Wouters, Emiel F M
- Vacek, Pamela M
- Henket, Monique
- Schleich, Florence
- Louis, Renaud
- van der Vliet, Albert
- Janssen-Heininger, Yvonne M W
Producer: 20190819
In:
The Journal of allergy and clinical immunology vol. 142
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Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. [electronic resource] by
- Carss, Keren J
- Stevens, Elizabeth
- Foley, A Reghan
- Cirak, Sebahattin
- Riemersma, Moniek
- Torelli, Silvia
- Hoischen, Alexander
- Willer, Tobias
- van Scherpenzeel, Monique
- Moore, Steven A
- Messina, Sonia
- Bertini, Enrico
- Bönnemann, Carsten G
- Abdenur, Jose E
- Grosmann, Carla M
- Kesari, Akanchha
- Punetha, Jaya
- Quinlivan, Ros
- Waddell, Leigh B
- Young, Helen K
- Wraige, Elizabeth
- Yau, Shu
- Brodd, Lina
- Feng, Lucy
- Sewry, Caroline
- MacArthur, Daniel G
- North, Kathryn N
- Hoffman, Eric
- Stemple, Derek L
- Hurles, Matthew E
- van Bokhoven, Hans
- Campbell, Kevin P
- Lefeber, Dirk J
- Lin, Yung-Yao
- Muntoni, Francesco
Producer: 20130916
In:
American journal of human genetics vol. 93
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4686.
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Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy. [electronic resource] by
- Martin, Carol-Anne
- Ahmad, Ilyas
- Klingseisen, Anna
- Hussain, Muhammad Sajid
- Bicknell, Louise S
- Leitch, Andrea
- Nürnberg, Gudrun
- Toliat, Mohammad Reza
- Murray, Jennie E
- Hunt, David
- Khan, Fawad
- Ali, Zafar
- Tinschert, Sigrid
- Ding, James
- Keith, Charlotte
- Harley, Margaret E
- Heyn, Patricia
- Müller, Rolf
- Hoffmann, Ingrid
- Cormier-Daire, Valérie
- Dollfus, Hélène
- Dupuis, Lucie
- Bashamboo, Anu
- McElreavey, Kenneth
- Kariminejad, Ariana
- Mendoza-Londono, Roberto
- Moore, Anthony T
- Saggar, Anand
- Schlechter, Catie
- Weleber, Richard
- Thiele, Holger
- Altmüller, Janine
- Höhne, Wolfgang
- Hurles, Matthew E
- Noegel, Angelika Anna
- Baig, Shahid Mahmood
- Nürnberg, Peter
- Jackson, Andrew P
Producer: 20150123
In:
Nature genetics vol. 46
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4687.
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Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. [electronic resource] by
- Akawi, Nadia
- McRae, Jeremy
- Ansari, Morad
- Balasubramanian, Meena
- Blyth, Moira
- Brady, Angela F
- Clayton, Stephen
- Cole, Trevor
- Deshpande, Charu
- Fitzgerald, Tomas W
- Foulds, Nicola
- Francis, Richard
- Gabriel, George
- Gerety, Sebastian S
- Goodship, Judith
- Hobson, Emma
- Jones, Wendy D
- Joss, Shelagh
- King, Daniel
- Klena, Nikolai
- Kumar, Ajith
- Lees, Melissa
- Lelliott, Chris
- Lord, Jenny
- McMullan, Dominic
- O'Regan, Mary
- Osio, Deborah
- Piombo, Virginia
- Prigmore, Elena
- Rajan, Diana
- Rosser, Elisabeth
- Sifrim, Alejandro
- Smith, Audrey
- Swaminathan, Ganesh J
- Turnpenny, Peter
- Whitworth, James
- Wright, Caroline F
- Firth, Helen V
- Barrett, Jeffrey C
- Lo, Cecilia W
- FitzPatrick, David R
- Hurles, Matthew E
Producer: 20160307
In:
Nature genetics vol. 47
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4688.
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Advancing the high throughput identification of liver fibrosis protein signatures using multiplexed ion mobility spectrometry. [electronic resource] by
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- Burnum-Johnson, Kristin E
- Jacobs, Jon M
- Diamond, Deborah L
- Brown, Roslyn N
- Ibrahim, Yehia M
- Orton, Daniel J
- Piehowski, Paul D
- Purdy, David E
- Moore, Ronald J
- Danielson, William F
- Monroe, Matthew E
- Crowell, Kevin L
- Slysz, Gordon W
- Gritsenko, Marina A
- Sandoval, John D
- Lamarche, Brian L
- Matzke, Melissa M
- Webb-Robertson, Bobbie-Jo M
- Simons, Brenna C
- McMahon, Brian J
- Bhattacharya, Renuka
- Perkins, James D
- Carithers, Robert L
- Strom, Susan
- Self, Steven G
- Katze, Michael G
- Anderson, Gordon A
- Smith, Richard D
Producer: 20141118
In:
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Expression profiling using a hexamer-based universal microarray. [electronic resource] by
- Roth, Matthew E
- Feng, Li
- McConnell, Kevin J
- Schaffer, Paul J
- Guerra, Cesar E
- Affourtit, Jason P
- Piper, Kevin R
- Guccione, Lorri
- Hariharan, Jayashree
- Ford, Maura J
- Powell, Stephen W
- Krishnaswamy, Harish
- Lane, Jennifer
- Guccione, Lisa
- Intrieri, Gino
- Merkel, Jane S
- Perbost, Clotilde
- Valerio, Anthony
- Zolla, Brenda
- Graham, Carol D
- Hnath, Jonathan
- Michaelson, Chris
- Wang, Rixin
- Ying, Baoge
- Halling, Conrad
- Parman, Craig E
- Raha, Debasish
- Orr, Brent
- Jedrzkiewicz, Barbara
- Liao, Ji
- Tevelev, Anton
- Mattessich, Martin J
- Kranz, David M
- Lacey, Michelle
- Kaufman, Joseph C
- Kim, Junhyong
- Latimer, Darin R
- Lizardi, Paul M
Producer: 20041108
In:
Nature biotechnology vol. 22
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Interconnected Microphysiological Systems for Quantitative Biology and Pharmacology Studies. [electronic resource] by
- Edington, Collin D
- Chen, Wen Li Kelly
- Geishecker, Emily
- Kassis, Timothy
- Soenksen, Luis R
- Bhushan, Brij M
- Freake, Duncan
- Kirschner, Jared
- Maass, Christian
- Tsamandouras, Nikolaos
- Valdez, Jorge
- Cook, Christi D
- Parent, Tom
- Snyder, Stephen
- Yu, Jiajie
- Suter, Emily
- Shockley, Michael
- Velazquez, Jason
- Velazquez, Jeremy J
- Stockdale, Linda
- Papps, Julia P
- Lee, Iris
- Vann, Nicholas
- Gamboa, Mario
- LaBarge, Matthew E
- Zhong, Zhe
- Wang, Xin
- Boyer, Laurie A
- Lauffenburger, Douglas A
- Carrier, Rebecca L
- Communal, Catherine
- Tannenbaum, Steven R
- Stokes, Cynthia L
- Hughes, David J
- Rohatgi, Gaurav
- Trumper, David L
- Cirit, Murat
- Griffith, Linda G
Producer: 20190925
In:
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Phanerozoic trends in the global diversity of marine invertebrates. [electronic resource] by
- Alroy, John
- Aberhan, Martin
- Bottjer, David J
- Foote, Michael
- Fürsich, Franz T
- Harries, Peter J
- Hendy, Austin J W
- Holland, Steven M
- Ivany, Linda C
- Kiessling, Wolfgang
- Kosnik, Matthew A
- Marshall, Charles R
- McGowan, Alistair J
- Miller, Arnold I
- Olszewski, Thomas D
- Patzkowsky, Mark E
- Peters, Shanan E
- Villier, Loïc
- Wagner, Peter J
- Bonuso, Nicole
- Borkow, Philip S
- Brenneis, Benjamin
- Clapham, Matthew E
- Fall, Leigh M
- Ferguson, Chad A
- Hanson, Victoria L
- Krug, Andrew Z
- Layou, Karen M
- Leckey, Erin H
- Nürnberg, Sabine
- Powers, Catherine M
- Sessa, Jocelyn A
- Simpson, Carl
- Tomasovych, Adam
- Visaggi, Christy C
Producer: 20080718
In:
Science (New York, N.Y.) vol. 321
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4692.
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A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. [electronic resource] by
- Celestino-Soper, Patrícia B S
- Violante, Sara
- Crawford, Emily L
- Luo, Rui
- Lionel, Anath C
- Delaby, Elsa
- Cai, Guiqing
- Sadikovic, Bekim
- Lee, Kwanghyuk
- Lo, Charlene
- Gao, Kun
- Person, Richard E
- Moss, Timothy J
- German, Jennifer R
- Huang, Ni
- Shinawi, Marwan
- Treadwell-Deering, Diane
- Szatmari, Peter
- Roberts, Wendy
- Fernandez, Bridget
- Schroer, Richard J
- Stevenson, Roger E
- Buxbaum, Joseph D
- Betancur, Catalina
- Scherer, Stephen W
- Sanders, Stephan J
- Geschwind, Daniel H
- Sutcliffe, James S
- Hurles, Matthew E
- Wanders, Ronald J A
- Shaw, Chad A
- Leal, Suzanne M
- Cook, Edwin H
- Goin-Kochel, Robin P
- Vaz, Frédéric M
- Beaudet, Arthur L
Producer: 20120802
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 109
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4693.
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Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans. [electronic resource] by
- Al Turki, Saeed
- Manickaraj, Ashok K
- Mercer, Catherine L
- Gerety, Sebastian S
- Hitz, Marc-Phillip
- Lindsay, Sarah
- D'Alessandro, Lisa C A
- Swaminathan, G Jawahar
- Bentham, Jamie
- Arndt, Anne-Karin
- Louw, Jacoba
- Breckpot, Jeroen
- Gewillig, Marc
- Thienpont, Bernard
- Abdul-Khaliq, Hashim
- Harnack, Christine
- Hoff, Kirstin
- Kramer, Hans-Heiner
- Schubert, Stephan
- Siebert, Reiner
- Toka, Okan
- Cosgrove, Catherine
- Watkins, Hugh
- Lucassen, Anneke M
- O'Kelly, Ita M
- Salmon, Anthony P
- Bu'Lock, Frances A
- Granados-Riveron, Javier
- Setchfield, Kerry
- Thornborough, Chris
- Brook, J David
- Mulder, Barbara
- Klaassen, Sabine
- Bhattacharya, Shoumo
- Devriendt, Koen
- FitzPatrick, David R
- Wilson, David I
- Mital, Seema
- Hurles, Matthew E
Publication details: American journal of human genetics Mar 2016
In:
American journal of human genetics vol. 98
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4694.
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The Matchmaker Exchange: a platform for rare disease gene discovery. [electronic resource] by
- Philippakis, Anthony A
- Azzariti, Danielle R
- Beltran, Sergi
- Brookes, Anthony J
- Brownstein, Catherine A
- Brudno, Michael
- Brunner, Han G
- Buske, Orion J
- Carey, Knox
- Doll, Cassie
- Dumitriu, Sergiu
- Dyke, Stephanie O M
- den Dunnen, Johan T
- Firth, Helen V
- Gibbs, Richard A
- Girdea, Marta
- Gonzalez, Michael
- Haendel, Melissa A
- Hamosh, Ada
- Holm, Ingrid A
- Huang, Lijia
- Hurles, Matthew E
- Hutton, Ben
- Krier, Joel B
- Misyura, Andriy
- Mungall, Christopher J
- Paschall, Justin
- Paten, Benedict
- Robinson, Peter N
- Schiettecatte, François
- Sobreira, Nara L
- Swaminathan, Ganesh J
- Taschner, Peter E
- Terry, Sharon F
- Washington, Nicole L
- Züchner, Stephan
- Boycott, Kym M
- Rehm, Heidi L
Producer: 20160629
In:
Human mutation vol. 36
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Quantifying the contribution of recessive coding variation to developmental disorders. [electronic resource] by
- Martin, Hilary C
- Jones, Wendy D
- McIntyre, Rebecca
- Sanchez-Andrade, Gabriela
- Sanderson, Mark
- Stephenson, James D
- Jones, Carla P
- Handsaker, Juliet
- Gallone, Giuseppe
- Bruntraeger, Michaela
- McRae, Jeremy F
- Prigmore, Elena
- Short, Patrick
- Niemi, Mari
- Kaplanis, Joanna
- Radford, Elizabeth J
- Akawi, Nadia
- Balasubramanian, Meena
- Dean, John
- Horton, Rachel
- Hulbert, Alice
- Johnson, Diana S
- Johnson, Katie
- Kumar, Dhavendra
- Lynch, Sally Ann
- Mehta, Sarju G
- Morton, Jenny
- Parker, Michael J
- Splitt, Miranda
- Turnpenny, Peter D
- Vasudevan, Pradeep C
- Wright, Michael
- Bassett, Andrew
- Gerety, Sebastian S
- Wright, Caroline F
- FitzPatrick, David R
- Firth, Helen V
- Hurles, Matthew E
- Barrett, Jeffrey C
Producer: 20190225
In:
Science (New York, N.Y.) vol. 362
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4696.
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New predictors of complications in carotid body tumor resection. [electronic resource] by
- Kim, Gloria Y
- Lawrence, Peter F
- Moridzadeh, Rameen S
- Zimmerman, Kate
- Munoz, Alberto
- Luna-Ortiz, Kuauhyama
- Oderich, Gustavo S
- de Francisco, Juan
- Ospina, Jorge
- Huertas, Santiago
- de Souza, Leonardo R
- Bower, Thomas C
- Farley, Steven
- Gelabert, Hugh A
- Kret, Marcus R
- Harris, E John
- De Caridi, Giovanni
- Spinelli, Francesco
- Smeds, Matthew R
- Liapis, Christos D
- Kakisis, John
- Papapetrou, Anastasios P
- Debus, Eike S
- Behrendt, Christian-A
- Kleinspehn, Edgar
- Horton, Joshua D
- Mussa, Firas F
- Cheng, Stephen W K
- Morasch, Mark D
- Rasheed, Khurram
- Bennett, Matthew E
- Bismuth, Jean
- Lumsden, Alan B
- Abularrage, Christopher J
- Farber, Alik
Producer: 20170619
In:
Journal of vascular surgery vol. 65
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4697.
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International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases. [electronic resource] by
- Boycott, Kym M
- Rath, Ana
- Chong, Jessica X
- Hartley, Taila
- Alkuraya, Fowzan S
- Baynam, Gareth
- Brookes, Anthony J
- Brudno, Michael
- Carracedo, Angel
- den Dunnen, Johan T
- Dyke, Stephanie O M
- Estivill, Xavier
- Goldblatt, Jack
- Gonthier, Catherine
- Groft, Stephen C
- Gut, Ivo
- Hamosh, Ada
- Hieter, Philip
- Höhn, Sophie
- Hurles, Matthew E
- Kaufmann, Petra
- Knoppers, Bartha M
- Krischer, Jeffrey P
- Macek, Milan
- Matthijs, Gert
- Olry, Annie
- Parker, Samantha
- Paschall, Justin
- Philippakis, Anthony A
- Rehm, Heidi L
- Robinson, Peter N
- Sham, Pak-Chung
- Stefanov, Rumen
- Taruscio, Domenica
- Unni, Divya
- Vanstone, Megan R
- Zhang, Feng
- Brunner, Han
- Bamshad, Michael J
- Lochmüller, Hanns
Producer: 20170727
In:
American journal of human genetics vol. 100
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Fractional Third and Fourth Dose of RTS,S/AS01 Malaria Candidate Vaccine: A Phase 2a Controlled Human Malaria Parasite Infection and Immunogenicity Study. [electronic resource] by
- Regules, Jason A
- Cicatelli, Susan B
- Bennett, Jason W
- Paolino, Kristopher M
- Twomey, Patrick S
- Moon, James E
- Kathcart, April K
- Hauns, Kevin D
- Komisar, Jack L
- Qabar, Aziz N
- Davidson, Silas A
- Dutta, Sheetij
- Griffith, Matthew E
- Magee, Charles D
- Wojnarski, Mariusz
- Livezey, Jeffrey R
- Kress, Adrian T
- Waterman, Paige E
- Jongert, Erik
- Wille-Reece, Ulrike
- Volkmuth, Wayne
- Emerling, Daniel
- Robinson, William H
- Lievens, Marc
- Morelle, Danielle
- Lee, Cynthia K
- Yassin-Rajkumar, Bebi
- Weltzin, Richard
- Cohen, Joe
- Paris, Robert M
- Waters, Norman C
- Birkett, Ashley J
- Kaslow, David C
- Ballou, W Ripley
- Ockenhouse, Christian F
- Vekemans, Johan
Producer: 20170522
In:
The Journal of infectious diseases vol. 214
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Interconversion between Tumorigenic and Differentiated States in Acute Myeloid Leukemia. [electronic resource] by
- McKenzie, Mark D
- Ghisi, Margherita
- Oxley, Ethan P
- Ngo, Steven
- Cimmino, Luisa
- Esnault, Cécile
- Liu, Ruijie
- Salmon, Jessica M
- Bell, Charles C
- Ahmed, Nouraiz
- Erlichster, Michael
- Witkowski, Matthew T
- Liu, Grace J
- Chopin, Michael
- Dakic, Aleksandar
- Simankowicz, Emilia
- Pomilio, Giovanna
- Vu, Tina
- Krsmanovic, Pavle
- Su, Shian
- Tian, Luyi
- Baldwin, Tracey M
- Zalcenstein, Daniela A
- DiRago, Ladina
- Wang, Shu
- Metcalf, Donald
- Johnstone, Ricky W
- Croker, Ben A
- Lancaster, Graeme I
- Murphy, Andrew J
- Naik, Shalin H
- Nutt, Stephen L
- Pospisil, Vitek
- Schroeder, Timm
- Wall, Meaghan
- Dawson, Mark A
- Wei, Andrew H
- de Thé, Hugues
- Ritchie, Matthew E
- Zuber, Johannes
- Dickins, Ross A
Producer: 20200814
In:
Cell stem cell vol. 25
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Towards a unified paradigm for sequence-based identification of fungi. [electronic resource] by
- Kõljalg, Urmas
- Nilsson, R Henrik
- Abarenkov, Kessy
- Tedersoo, Leho
- Taylor, Andy F S
- Bahram, Mohammad
- Bates, Scott T
- Bruns, Thomas D
- Bengtsson-Palme, Johan
- Callaghan, Tony M
- Douglas, Brian
- Drenkhan, Tiia
- Eberhardt, Ursula
- Dueñas, Margarita
- Grebenc, Tine
- Griffith, Gareth W
- Hartmann, Martin
- Kirk, Paul M
- Kohout, Petr
- Larsson, Ellen
- Lindahl, Björn D
- Lücking, Robert
- Martín, María P
- Matheny, P Brandon
- Nguyen, Nhu H
- Niskanen, Tuula
- Oja, Jane
- Peay, Kabir G
- Peintner, Ursula
- Peterson, Marko
- Põldmaa, Kadri
- Saag, Lauri
- Saar, Irja
- Schüßler, Arthur
- Scott, James A
- Senés, Carolina
- Smith, Matthew E
- Suija, Ave
- Taylor, D Lee
- Telleria, M Teresa
- Weiss, Michael
- Larsson, Karl-Henrik
Producer: 20140424
In:
Molecular ecology vol. 22
Availability: No items available.
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