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Search Results - Bussell, Anna‐Marie
Search Results - Bussell, Anna‐Marie
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Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2
by
Cabezas, Oscar Rubio
,
Flanagan, Sarah E
,
Stanescu, Horia
,
García-Martínez, Elena
,
Caswell, Richard
,
Lango-Allen, Hana
,
Antón-Gamero, Montserrat
,
Argente, Jesús
,
Bussell, Anna-Marie
,
Brandli, Andre
,
Cheshire, Chris
,
Crowne, Elizabeth
,
Dumitriu, Simona
,
Drynda, Robert
,
Hamilton-Shield, Julian P
,
Hayes, Wesley
,
Hofherr, Alexis
,
Iancu, Daniela
,
Issler, Naomi
,
Jefferies, Craig
,
Jones, Peter
,
Johnson, Matthew
,
Kesselheim, Anne
,
Klootwijk, Enriko
,
Koettgen, Michael
,
Lewis, Wendy
,
Martos, José María
,
Mozere, Monika
,
Norman, Jill
,
Patel, Vaksha
,
Parrish, Andrew
,
Pérez-Cerdá, Celia
,
Pozo, Jesús
,
Rahman, Sofia A
,
Sebire, Neil
,
Tekman, Mehmet
,
Turnpenny, Peter D
,
Hoff, William Van't
,
Viering, Daan H H M
,
Weedon, Michael N
,
Wilson, Patricia
,
Guay-Woodford, Lisa
,
Kleta, Robert
,
Hussain, Khalid
,
Ellard, Sian
,
Bockenhauer, Detlef
Published in
Journal of the American Society of Nephrology
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In-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantism
by
Salvatori, Roberto
,
Radian, Serban
,
Diekmann, Yoan
,
Iacovazzo, Donato
,
David, Alessia
,
Gabrovska, Plamena
,
Grassi, Giorgia
,
Bussell, Anna-Marie
,
Stals, Karen
,
Weber, Astrid
,
Quinton, Richard
,
Crowne, Elizabeth C
,
Corazzini, Valentina
,
Metherell, Lou
,
Kearney, Tara
,
Du Plessis, Daniel
,
Sinha, Ajay Kumar
,
Baborie, Atik
,
Lecoq, Anne-Lise
,
Chanson, Philippe
,
Ansorge, Olaf
,
Ellard, Sian
,
Trainer, Peter J
,
Balding, David
,
Thomas, Mark G
,
Korbonits, Márta
Published in
European journal of endocrinology
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Increased Population Risk of AIP‐Related Acromegaly and Gigantism in Ireland
by
Radian, Serban
,
Diekmann, Yoan
,
Gabrovska, Plamena
,
Holland, Brendan
,
Bradley, Lisa
,
Wallace, Helen
,
Stals, Karen
,
Bussell, Anna‐Marie
,
McGurren, Karen
,
Cuesta, Martin
,
Ryan, Anthony W.
,
Herincs, Maria
,
Hernández‐Ramírez, Laura C.
,
Holland, Aidan
,
Samuels, Jade
,
Aflorei, Elena Daniela
,
Barry, Sayka
,
Dénes, Judit
,
Pernicova, Ida
,
Stiles, Craig E.
,
Trivellin, Giampaolo
,
McCloskey, Ronan
,
Ajzensztejn, Michal
,
Abid, Noina
,
Akker, Scott A.
,
Mercado, Moises
,
Cohen, Mark
,
Thakker, Rajesh V.
,
Baldeweg, Stephanie
,
Barkan, Ariel
,
Musat, Madalina
,
Levy, Miles
,
Orme, Stephen M.
,
Unterländer, Martina
,
Burger, Joachim
,
Kumar, Ajith V.
,
Ellard, Sian
,
McPartlin, Joseph
,
McManus, Ross
,
Linden, Gerard J.
,
Atkinson, Brew
,
Balding, David J.
,
Agha, Amar
,
Thompson, Chris J.
,
Hunter, Steven J.
,
Thomas, Mark G.
,
Morrison, Patrick J.
,
Korbonits, Márta
Published in
Human mutation
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European Journal Of Endocrinology
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Human Mutation
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Journal Of The American Society Of Nephrology
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Gigantism - Diagnosis
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Intracellular Signaling Peptides And Proteins - Genetics
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Young Adult
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