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South Atlantic interbasin exchanges of mass, heat, salt and anthropogenic carbon
by
Evans, G.R.
,
McDonagh, E.L.
,
King, B.A.
,
Bryden, H.L.
,
Bakker, D.C.E.
,
Brown, P.J.
,
Schuster, U.
,
Speer, K.G.
,
van Heuven, S.M.A.C.
Published in
Progress in oceanography
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2017 ESC Guidelines on the Diagnosis and Treatment of Peripheral Arterial Diseases, in collaboration with the European Society for Vascular Surgery (ESVS)
by
Aboyans, Victor
,
Ricco, Jean-Baptiste
,
Bartelink, Marie-Louise E L
,
Björck, Martin
,
Brodmann, Marianne
,
Cohnert, Tina
,
Collet, Jean-Philippe
,
Czerny, Martin
,
De Carlo, Marco
,
Debus, Sebastian
,
Espinola-Klein, Christine
,
Kahan, Thomas
,
Kownator, Serge
,
Mazzolai, Lucia
,
Naylor, A Ross
,
Roffi, Marco
,
Röther, Joachim
,
Sprynger, Muriel
,
Tendera, Michal
,
Tepe, Gunnar
,
Venermo, Maarit
,
Vlachopoulos, Charalambos
,
Desormais, Ileana
Published in
European heart journal
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Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia
by
Morsy, Heba
,
Benkirane, Mehdi
,
Cali, Elisa
,
Zhelcheska, Kristina
,
Cipriani, Valentina
,
Galanaki, Evangelia
,
Maroofian, Reza
,
Efthymiou, Stephanie
,
Murphy, David
,
Banka, Siddharth
,
Clayton-Smith, Jill
,
Redman, Melody
,
Bassetti, Jennifer A.
,
Nizon, Mathilde
,
Jamra, Rami Abu
,
Heruth, Marion
,
Krey, Ilona
,
Gburek-Augustat, Janina
,
Wieczorek, Dagmar
,
Mcentagart, Meriel
,
Goldenberg, Alice
,
Guyant-Marechal, Lucie
,
Garcia-Moreno, Hector
,
Giunti, Paola
,
Chabrol, Brigitte
,
Bacrot, Severine
,
Buissonnière, Roger
,
Gowda, Vykuntaraju K.
,
Srinivasan, Varunvenkat M.
,
Melegh, Béla
,
Szabó, András
,
Sümegi, Katalin
,
Cossée, Mireille
,
Ziff, Monica
,
Butterfield, Russell
,
Hunt, David
,
Hanna, Michael
,
Koenig, Michel
,
Vandrovcova, Jana
,
Houlden, Henry
,
Arumugam, P.
,
Baple, E.L.
,
Bleda, M.
,
Boardman-Pretty, F.
,
Boissiere, J.M.
,
Boustred, C.R.
,
Brittain, H.
,
Caulfield, M.J.
,
Chan, G.C.
,
Daugherty, L.C.
,
Devereau, A.
,
Foulger, R.E.
,
Fowler, T.
,
Furió-Tarí, P.
,
Halai, D.
,
Hamblin, A.
,
Henderson, S.
,
Holman, J.E.
,
Hubbard, T.J.P.
,
Ibáñez, K.
,
Jackson, R.
,
Jones, L.J.
,
Kasperaviciute, D.
,
Lahnstein, L.
,
Leigh, S.E.A.
,
Leong, I.U.S.
,
Lopez, F.J.
,
Maleady-Crowe, F.
,
Mason, J.
,
McDonagh, E.M.
,
Moutsianas, L.
,
Mueller, M.
,
Murugaesu, N.
,
Odhams, C.A.
,
Patch, C.
,
Perez-Gil, D.
,
Pullinger, J.
,
Rahim, T.
,
Riesgo-Ferreiro, P.
,
Rogers, T.
,
Ryten, M.
,
Savage, K.
,
Scott, R.H.
,
Siddiq, A.
,
Sieghart, A.
,
Smedley, D.
,
Smith, K.R.
,
Sosinsky, A.
,
Stevens, H.E.
,
Stuckey, A.
,
Sultana, R.
,
Thompson, S.R.
,
Tucci, A.
,
Walsh, E.
,
Watters, S.A.
,
Welland, M.J.
,
Williams, E.
,
Witkowska, K.
,
Wood, S.M.
,
Zarowiecki, M.
Published in
Genetics in medicine
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Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
by
Tucci, Arianna
,
Cipriani, Valentina
,
Demidov, German
,
Rocca, Clarissa
,
Senderek, Jan
,
Butryn, Michaela
,
Lam, Tanya
,
Cali, Elisa
,
Vestito, Letizia
,
Maroofian, Reza
,
Deininger, Natalie
,
Rautenberg, Maren
,
Admard, Jakob
,
Bartels, Claudius
,
Horvath, Rita
,
Chinnery, Patrick F.
,
Tiet, May Yung
,
Hewamadduma, Channa
,
Tofaris, George K.
,
Ambrose, J.C.
,
Arumugam, P.
,
Baple, E.L.
,
Bleda, M.
,
Boardman-Pretty, F.
,
Boissiere, J.M.
,
Boustred, C.R.
,
Brittain, H.
,
Caulfield, M.J.
,
Craig, C.E.H.
,
Daugherty, L.C.
,
Devereau, A.
,
Elgar, G.
,
Foulger, R.E.
,
Fowler, T.
,
Furió-Tarí, P.
,
Hackett, J.M.
,
Halai, D.
,
Hamblin, A.
,
Henderson, S.
,
Holman, J.E.
,
Ibáñez, K.
,
Jackson, R.
,
Jones, L.J.
,
Kasperaviciute, D.
,
Kayikci, M.
,
Lahnstein, L.
,
Lawson, K.
,
Leigh, S.E.A.
,
Leong, I.U.S.
,
Maleady-Crowe, F.
,
Mason, J.
,
McDonagh, E.M.
,
Moutsianas, L.
,
Mueller, M.
,
Odhams, C.A.
,
Patch, C.
,
Perez-Gil, D.
,
Pullinger, J.
,
Rahim, T.
,
Riesgo-Ferreiro, P.
,
Rogers, T.
,
Ryten, M.
,
Sawant, K.
,
Scott, R.H.
,
Siddiq, A.
,
Sieghart, A.
,
Smedley, D.
,
Smith, K.R.
,
Spooner, W.
,
Stevens, H.E.
,
Stuckey, A.
,
Sultana, R.
,
Thomas, E.R.A.
,
Tucci, A.
,
Watters, S.A.
,
Welland, M.J.
,
Williams, E.
,
Zarowiecki, M.
,
Wood, Nicholas W.
,
Hayer, Stefanie N.
,
Bender, Friedemann
,
Menden, Benita
,
Cordts, Isabell
,
Klein, Katrin
,
Krauss, Joachim K.
,
Blahak, Christian
,
Strom, Tim M.
,
Sturm, Marc
,
van de Warrenburg, Bart
,
Lerche, Holger
,
Maček, Boris
,
Ossowski, Stephan
,
Timmann, Dagmar
,
Wolf, Marc E.
,
Smedley, Damian
,
Riess, Olaf
,
Schöls, Ludger
,
Houlden, Henry
,
Haack, Tobias B.
,
Hengel, Holger
Published in
Genetics in medicine
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Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis
by
Owen, Nicholas
,
Toms, Maria
,
Young, Rodrigo M.
,
Eintracht, Jonathan
,
Sarkar, Hajrah
,
Brooks, Brian P.
,
Moosajee, Mariya
,
Ambrose, J.C.
,
Baple, E.L.
,
Bleda, M.
,
Boardman-Pretty, F.
,
Boissiere, J.M.
,
Boustred, C.R.
,
Caulfield, M.J.
,
Chan, G.C.
,
Craig, C.E.H.
,
Daugherty, L.C.
,
de, Burca A.
,
Devereau, A.
,
Elgar, G.
,
Foulger, R.E.
,
Fowler, T.
,
Furió-Tarí, P.
,
Hackett, J.M.
,
Halai, D.
,
Holman, J.E.
,
Hubbard, T.J.P.
,
Jackson, R.
,
Kasperaviciute, D.
,
Kayikci, M.
,
Lahnstein, L.
,
Lawson, K.
,
Leigh, S.E.A.
,
Leong, I.U.S.
,
Lopez, F.J.
,
Maleady-Crowe, F.
,
Mason, J.
,
McDonagh, E.M.
,
Moutsianas, L.
,
Mueller, M.
,
Murugaesu, N.
,
Need, A.C.
,
Odhams, C.A.
,
Patch, C.
,
Perez-Gil, D.
,
Polychronopoulos, D.
,
Pullinger, J.
,
Rahim, T.
,
Rendon, A.
,
Riesgo-Ferreiro, P.
,
Rogers, T.
,
Ryten, M.
,
Savage, K.
,
Sawant, K.
,
Scott, R.H.
,
Siddiq, A.
,
Sieghart, A.
,
Smedley, D.
,
Smith, K.R.
,
Sosinsky, A.
,
Spooner, W.
,
Stevens, H.E.
,
Stuckey, A.
,
Sultana, R.
,
Thomas, E.R.A.
,
Thompson, S.R.
,
Tregidgo, C.
,
Tucci, A.
,
Walsh, E.
,
Watters, S.A.
,
Welland, M.J.
,
Williams, E.
,
Witkowska, K.
,
Wood, S.M.
,
Zarowiecki, M.
Published in
Genetics in medicine
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New variants and in silico analyses in GRK1 associated Oguchi disease
by
Poulter, James A.
,
Gravett, Molly S. C.
,
Taylor, Rachel L.
,
Fujinami, Kaoru
,
De Zaeytijd, Julie
,
Bellingham, James
,
Rehman, Atta Ur
,
Hayashi, Takaaki
,
Kondo, Mineo
,
Rehman, Abdur
,
Ansar, Muhammad
,
Donnelly, Dan
,
Toomes, Carmel
,
Ali, Manir
,
De Baere, Elfride
,
Leroy, Bart P.
,
Davies, Nigel P.
,
Henderson, Robert H.
,
Webster, Andrew R.
,
Rivolta, Carlo
,
Zeitz, Christina
,
Mahroo, Omar A.
,
Arno, Gavin
,
Black, Graeme C. M.
,
McKibbin, Martin
,
Harris, Sarah A.
,
Khan, Kamron N.
,
Inglehearn, Chris F.
Published in
Human mutation
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Late diagnoses of Dravet syndrome: How many individuals are we missing?
by
Silvennoinen, Katri
,
Puvirajasinghe, Clinda
,
Hudgell, Kirsty
,
Sidhu, Meneka K.
,
Martins Custodio, Helena
,
Jones, Wendy D.
,
Balestrini, Simona
,
Sisodiya, Sanjay M.
,
Ambrose, J. C.
,
Arumugam, P.
,
Baple, E. L.
,
Bleda, M.
,
Boardman‐Pretty, F.
,
Boissiere, J. M.
,
Boustred, C. R.
,
Caulfield, M. J.
,
Chan, G. C.
,
Craig, C. E. H.
,
Daugherty, L. C.
,
de Burca, A.
,
Devereau, A.
,
Elgar, G.
,
Foulger, R. E.
,
Fowler, T.
,
Furió‐Tarí, P.
,
Hackett, J. M.
,
Halai, D.
,
Hamblin, A.
,
Henderson, S.
,
Holman, J. E.
,
Hubbard, T. J. P.
,
Ibáñez, K.
,
Jackson, R.
,
Jones, L. J.
,
Kasperaviciute, D.
,
Kayikci, M.
,
Lahnstein, L.
,
Lawson, K.
,
Leigh, S. E. A.
,
Leong, I. U. S.
,
Lopez, F. J.
,
Maleady‐Crowe, F.
,
Mason, J.
,
McDonagh, E. M.
,
Moutsianas, L.
,
Mueller, M.
,
Murugaesu, N.
,
Need, A. C.
,
Odhams, C. A.
,
Patch, C.
,
Perez‐Gil, D.
,
Polychronopoulos, D.
,
Pullinger, J.
,
Rahim, T.
,
Rendon, A.
,
Riesgo‐Ferreiro, P.
,
Rogers, T.
,
Ryten, M.
,
Savage, K.
,
Sawant, K.
,
Scott, R. H.
,
Siddiq, A.
,
Sieghart, A.
,
Smedley, D.
,
Smith, K. R.
,
Sosinsky, A.
,
Spooner, W.
,
Stevens, H. E.
,
Stuckey, A.
,
Sultana, R.
,
Thomas, E. R. A.
,
Thompson, S. R.
,
Tucci, A.
,
Walsh, E.
,
Watters, S. A.
,
Welland, M. J.
,
Williams, E.
,
Witkowska, K.
Published in
Epilepsia open
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Helicobacter pylori infection and coronary heart disease in the North Glasgow MONICA population
by
McDonagh, T. A.
,
Woodward, M.
,
Morrison, C. E.
,
McMurray, J. J. V.
,
Tunstall-Pedoe, H.
,
Lowe, G. D. O.
,
McColl, K. E. L.
,
Dargie, H. J.
Published in
European heart journal
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