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Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation
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Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation

Plotkin, Scott R. ; Messiaen, Ludwine ; Legius, Eric ; Pancza, Patrice ; Avery, Robert A. ; Blakeley, Jaishri O. ; Babovic-Vuksanovic, Dusica ; Ferner, Rosalie ; Fisher, Michael J. ; Friedman, Jan M. ; Giovannini, Marco ; Gutmann, David H. ; Hanemann, Clemens Oliver ; Kalamarides, Michel ; Kehrer-Sawatzki, Hildegard ; Korf, Bruce R. ; Mautner, Victor-Felix ; MacCollin, Mia ; Papi, Laura ; Rauen, Katherine A. ; Riccardi, Vincent ; Schorry, Elizabeth ; Smith, Miriam J. ; Stemmer-Rachamimov, Anat ; Stevenson, David A. ; Ullrich, Nicole J. ; Viskochil, David ; Wimmer, Katharina ; Yohay, Kaleb ; Huson, Susan M. ; Wolkenstein, Pierre ; Evans, Dafydd Gareth

Genetics in medicine, 2022-09, Vol.24 (9), p.1967-1977 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Rare pathogenic variants in WNK3 cause X-linked intellectual disability
Rare pathogenic variants in WNK3 cause X-linked intellectual disability
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Rare pathogenic variants in WNK3 cause X-linked intellectual disability

Küry, Sébastien ; Zhang, Jinwei ; Besnard, Thomas ; Caro-Llopis, Alfonso ; Zeng, Xue ; Robert, Stephanie M. ; Josiah, Sunday S. ; Kiziltug, Emre ; Denommé-Pichon, Anne-Sophie ; Cogné, Benjamin ; Kundishora, Adam J. ; Hao, Le T. ; Li, Hong ; Stevenson, Roger E. ; Louie, Raymond J. ; Deb, Wallid ; Torti, Erin ; Vignard, Virginie ; McWalter, Kirsty ; Raymond, F. Lucy ; Rajabi, Farrah ; Ranza, Emmanuelle ; Grozeva, Detelina ; Coury, Stephanie A. ; Blanc, Xavier ; Brischoux-Boucher, Elise ; Keren, Boris ; Õunap, Katrin ; Reinson, Karit ; Ilves, Pilvi ; Wentzensen, Ingrid M. ; Barr, Eileen E. ; Guihard, Solveig Heide ; Charles, Perrine ; Seaby, Eleanor G. ; Monaghan, Kristin G. ; Rio, Marlène ; van Bever, Yolande ; van Slegtenhorst, Marjon ; Chung, Wendy K. ; Wilson, Ashley ; Quinquis, Delphine ; Bréhéret, Flora ; Retterer, Kyle ; Lindenbaum, Pierre ; Scalais, Emmanuel ; Rhodes, Lindsay ; Stouffs, Katrien ; Pereira, Elaine M. ; Berger, Sara M. ; Milla, Sarah S. ; Jaykumar, Ankita B. ; Cobb, Melanie H. ; Panchagnula, Shreyas ; Duy, Phan Q. ; Vincent, Marie ; Mercier, Sandra ; Gilbert-Dussardier, Brigitte ; Le Guillou, Xavier ; Audebert-Bellanger, Séverine ; Odent, Sylvie ; Schmitt, Sébastien ; Boisseau, Pierre ; Bonneau, Dominique ; Toutain, Annick ; Colin, Estelle ; Pasquier, Laurent ; Redon, Richard ; Bouman, Arjan ; Rosenfeld, Jill. A. ; Friez, Michael J. ; Pérez-Peña, Helena ; Akhtar Rizvi, Syed Raza ; Haider, Shozeb ; Antonarakis, Stylianos E. ; Schwartz, Charles E. ; Martínez, Francisco ; Bézieau, Stéphane ; Kahle, Kristopher T. ; Isidor, Bertrand

Genetics in medicine, 2022-09, Vol.24 (9), p.1941-1951 [Periódico revisado por pares]

United States: Elsevier Inc

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3
Jupiter’s inhomogeneous envelope
Jupiter’s inhomogeneous envelope
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Jupiter’s inhomogeneous envelope

Miguel, Y. ; Bazot, M. ; Guillot, T. ; Howard, S. ; Galanti, E. ; Kaspi, Y. ; Hubbard, W. B. ; Militzer, B. ; Helled, R. ; Atreya, S. K. ; Connerney, J. E. P. ; Durante, D. ; Kulowski, L. ; Lunine, J. I. ; Stevenson, D. ; Bolton, S.

Astronomy and astrophysics (Berlin), 2022-06, Vol.662, p.A18 [Periódico revisado por pares]

EDP Sciences

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4
Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
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Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders

Sadikovic, Bekim ; Levy, Michael A ; Kerkhof, Jennifer ; Aref-Eshghi, Erfan ; Schenkel, Laila ; Stuart, Alan ; McConkey, Haley ; Henneman, Peter ; Venema, Andrea ; Schwartz, Charles E ; Stevenson, Roger E ; Skinner, Steven A ; DuPont, Barbara R ; Fletcher, Robin S ; Balci, Tugce B ; Siu, Victoria Mok ; Granadillo, Jorge L ; Masters, Jennefer ; Kadour, Mike ; Friez, Michael J ; van Haelst, Mieke M ; Mannens, Marcel M A M ; Louie, Raymond J ; Lee, Jennifer A ; Tedder, Matthew L ; Alders, Marielle

Genetics in medicine, 2021-11, Vol.23 (11), p.2228-2228 [Periódico revisado por pares]

United States: Elsevier Limited

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5
Targeted inhibition of eIF4A suppresses B-cell receptor-induced translation and expression of MYC and MCL1 in chronic lymphocytic leukemia cells
Targeted inhibition of eIF4A suppresses B-cell receptor-induced translation and expression of MYC and MCL1 in chronic lymphocytic leukemia cells
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Targeted inhibition of eIF4A suppresses B-cell receptor-induced translation and expression of MYC and MCL1 in chronic lymphocytic leukemia cells

Wilmore, Sarah ; Rogers-Broadway, Karly-Rai ; Taylor, Joe ; Lemm, Elizabeth ; Fell, Rachel ; Stevenson, Freda K. ; Forconi, Francesco ; Steele, Andrew J. ; Coldwell, Mark ; Packham, Graham ; Yeomans, Alison

Cellular and molecular life sciences : CMLS, 2021-09, Vol.78 (17-18), p.6337-6349 [Periódico revisado por pares]

Cham: Springer International Publishing

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6
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
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Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Legius, Eric ; Messiaen, Ludwine ; Wolkenstein, Pierre ; Pancza, Patrice ; Avery, Robert A. ; Berman, Yemima ; Blakeley, Jaishri ; Babovic-Vuksanovic, Dusica ; Cunha, Karin Soares ; Ferner, Rosalie ; Fisher, Michael J. ; Friedman, Jan M. ; Gutmann, David H. ; Kehrer-Sawatzki, Hildegard ; Korf, Bruce R. ; Mautner, Victor-Felix ; Peltonen, Sirkku ; Rauen, Katherine A. ; Riccardi, Vincent ; Schorry, Elizabeth ; Stemmer-Rachamimov, Anat ; Stevenson, David A. ; Tadini, Gianluca ; Ullrich, Nicole J. ; Viskochil, David ; Wimmer, Katharina ; Yohay, Kaleb ; Gomes, Alicia ; Jordan, Justin T. ; Mautner, Victor ; Merker, Vanessa L. ; Smith, Miriam J. ; Stevenson, David ; Anten, Monique ; Aylsworth, Arthur ; Baralle, Diana ; Barbarot, Sebastien ; Barker, Fred ; Ben-Shachar, Shay ; Bergner, Amanda ; Bessis, Didier ; Blanco, Ignacio ; Cassiman, Catherine ; Ciavarelli, Patricia ; Clementi, Maurizio ; Frébourg, Thierry ; Giovannini, Marco ; Halliday, Dorothy ; Hammond, Chris ; Hanemann, C.O. ; Hanson, Helen ; Heiberg, Arvid ; Joly, Pascal ; Kalamarides, Michel ; Karajannis, Matthias ; Kroshinsky, Daniela ; Larralde, Margarita ; Lázaro, Conxi ; Le, Lu ; Link, Michael ; Listernick, Robert ; MacCollin, Mia ; Mallucci, Conor ; Moertel, Christopher ; Mueller, Amy ; Ngeow, Joanne ; Oostenbrink, Rianne ; Packer, Roger ; Papi, Laura ; Parry, Allyson ; Peltonen, Juha ; Pichard, Dominique ; Poppe, Bruce ; Rezende, Nilton ; Rodrigues, Luiz Oswaldo ; Rosser, Tena ; Ruggieri, Martino ; Serra, Eduard ; Steinke-Lange, Verena ; Stivaros, Stavros Michael ; Taylor, Amy ; Toelen, Jaan ; Tonsgard, James ; Trevisson, Eva ; Upadhyaya, Meena ; Varan, Ali ; Wilson, Meredith ; Wu, Hao ; Zadeh, Gelareh ; Huson, Susan M. ; Evans, D. Gareth ; Plotkin, Scott R.

Genetics in medicine, 2021-08, Vol.23 (8), p.1506-1513 [Periódico revisado por pares]

United States: Elsevier Inc

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7
Origins space telescope: from first light to life
Origins space telescope: from first light to life
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Origins space telescope: from first light to life

Wiedner, M. C. ; Aalto, S. ; Armus, L. ; Bergin, E. ; Birkby, J. ; Bradford, C. M. ; Burgarella, D. ; Caselli, P. ; Charmandaris, V. ; Cooray, A. ; De Beck, E. ; Desert, J. M. ; Gerin, M. ; Goicoechea, J. ; Griffin, M. ; Hartogh, P. ; Helmich, F. ; Hogerheijde, M. ; Hunt, L. ; Karska, A. ; Kral, Q. ; Leisawitz, D. ; Melnick, G. ; Meixner, M. ; Matsuura, M. ; Milam, S. ; Pearson, C. ; Pesce, D. W. ; Pontoppidan, K. M. ; Pope, A. ; Rigopoulou, D. ; Roellig, T. ; Sakon, I. ; Staguhn, J. ; Stevenson, K.

Experimental astronomy, 2021-06, Vol.51 (3), p.595-624 [Periódico revisado por pares]

Dordrecht: Springer Netherlands

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8
Comparison of the Deep Atmospheric Dynamics of Jupiter and Saturn in Light of the Juno and Cassini Gravity Measurements
Comparison of the Deep Atmospheric Dynamics of Jupiter and Saturn in Light of the Juno and Cassini Gravity Measurements
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Comparison of the Deep Atmospheric Dynamics of Jupiter and Saturn in Light of the Juno and Cassini Gravity Measurements

Kaspi, Yohai ; Galanti, Eli ; Showman, Adam P. ; Stevenson, David J. ; Guillot, Tristan ; Iess, Luciano ; Bolton, Scott J.

Space science reviews, 2020-08, Vol.216 (5), Article 84 [Periódico revisado por pares]

Dordrecht: Springer Netherlands

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9
Review of GPS collar deployments and performance on nonhuman primates
Review of GPS collar deployments and performance on nonhuman primates
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Review of GPS collar deployments and performance on nonhuman primates

Dore, Kerry M. ; Hansen, Malene F. ; Klegarth, Amy R. ; Fichtel, Claudia ; Koch, Flávia ; Springer, Andrea ; Kappeler, Peter ; Parga, Joyce A. ; Humle, Tatyana ; Colin, Christelle ; Raballand, Estelle ; Huang, Zhi-Pang ; Qi, Xiao-Guang ; Di Fiore, Anthony ; Link, Andrés ; Stevenson, Pablo R. ; Stark, Danica J. ; Tan, Noeleen ; Gallagher, Christa A. ; Anderson, C. Jane ; Campbell, Christina J. ; Kenyon, Marina ; Pebsworth, Paula ; Sprague, David ; Jones-Engel, Lisa ; Fuentes, Agustín

Primates, 2020-05, Vol.61 (3), p.373-387 [Periódico revisado por pares]

Tokyo: Springer Japan

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10
The origin of spin in binary black holes
The origin of spin in binary black holes
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The origin of spin in binary black holes

Bavera, Simone S ; Fragos, Tassos ; Qin, Ying ; Zapartas, Emmanouil ; Neijssel, Coenraad J ; Mandel, Ilya ; Batta, Aldo ; Gaebel, Sebastian M ; Chase, Kimball ; Stevenson, Simon

Astronomy and astrophysics (Berlin), 2020-03, Vol.635 [Periódico revisado por pares]

Heidelberg: EDP Sciences

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