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by Kim, Jung-Hyun and Shinde, Deepali N and Reijnders, Margot R.F and Hauser, Natalie S and Belmonte, Rebecca L and Wilson, Gregory R and Bosch, Daniëlle G.M and Bubulya, Paula A and Shashi, Vandana and Petrovski, Slavé and Stone, Joshua K and Park, Eun Young and Veltman, Joris A and Sinnema, Margje and Stumpel, Connie T.R.M and Draaisma, Jos M and Nicolai, Joost and Yntema, Helger G and Lindstrom, Kristin and de Vries, Bert B.A and Jewett, Tamison and Santoro, Stephanie L and Vogt, Julie and Bachman, Kristine K and Seeley, Andrea H and Krokosky, Alyson and Turner, Clesson and Rohena, Luis and Hempel, Maja and Kortüm, Fanny and Lessel, Davor and Neu, Axel and Strom, Tim M and Wieczorek, Dagmar and Bramswig, Nuria and Laccone, Franco A and Behunova, Jana and Rehder, Helga and Gordon, Christopher T and Rio, Marlène and Romana, Serge and Tang, Sha and El-Khechen, Dima and Cho, Megan T and McWalter, Kirsty and Douglas, Ganka and Baskin, Berivan and Begtrup, Amber and Funari, Tara and Schoch, Kelly and Stegmann, Alexander P.A and Stevens, Servi J.C and Zhang, Dong-Er and Traver, David and Yao, Xu and MacArthur, Daniel G and Brunner, Han G and Mancini, Grazia M and Myers, Richard M and Owen, Laurie B and Lim, Ssang-Taek and Stachura, David L and Vissers, Lisenka E.L.M and Ahn, Eun-Young Erin and Deciphering Developmental Disorders Study and University of Washington Center for Mendelian Genomics and Univ Washington and Deciphering Dev Disorders Study
American journal of human genetics, ISSN 0002-9297, 09/2016, Volume 99, Issue 3, pp. 711 - 719
Journal Article
by Küry, Sébastien and van Woerden, Geeske M and Besnard, Thomas and Proietti Onori, Martina and Latypova, Xénia and Towne, Meghan C and Cho, Megan T and Prescott, Trine E and Ploeg, Melissa A and Sanders, Stephan and Stessman, Holly A.F and Pujol, Aurora and Distel, Ben and Robak, Laurie A and Bernstein, Jonathan A and Denommé-Pichon, Anne-Sophie and Lesca, Gaëtan and Sellars, Elizabeth A and Berg, Jonathan and Carré, Wilfrid and Busk, Øyvind Løvold and van Bon, Bregje W.M and Waugh, Jeff L and Deardorff, Matthew and Hoganson, George E and Bosanko, Katherine B and Johnson, Diana S and Dabir, Tabib and Holla, Øystein Lunde and Sarkar, Ajoy and Tveten, Kristian and de Bellescize, Julitta and Braathen, Geir J and Terhal, Paulien A and Grange, Dorothy K and van Haeringen, Arie and Lam, Christina and Mirzaa, Ghayda and Burton, Jennifer and Bhoj, Elizabeth J and Douglas, Jessica and Santani, Avni B and Nesbitt, Addie I and Helbig, Katherine L and Andrews, Marisa V and Begtrup, Amber and Tang, Sha and van Gassen, Koen L.I and Juusola, Jane and Foss, Kimberly and Enns, Gregory M and Moog, Ute and Hinderhofer, Katrin and Paramasivam, Nagarajan and Lincoln, Sharyn and Kusako, Brandon H and Lindenbaum, Pierre and Charpentier, Eric and Nowak, Catherine B and Cherot, Elouan and Simonet, Thomas and Ruivenkamp, Claudia A.L and Hahn, Sihoun and Brownstein, Catherine A and Xia, Fan and Schmitt, Sébastien and Deb, Wallid and Bonneau, Dominique and Nizon, Mathilde and Quinquis, Delphine and Chelly, Jamel and Rudolf, Gabrielle and Sanlaville, Damien and Parent, Philippe and Gilbert-Dussardier, Brigitte and Toutain, Annick and Sutton, Vernon R and Thies, Jenny and Peart-Vissers, Lisenka E.L.M and Boisseau, Pierre and Vincent, Marie and Grabrucker, Andreas M and Dubourg, Christèle and Tan, Wen-Hann and Verbeek, Nienke E and Granzow, Martin and Santen, Gijs W.E and Shendure, Jay and Isidor, Bertrand and Pasquier, Laurent and Redon, Richard and Yang, Yaping and State, Matthew W and Kleefstra, Tjitske and Cogné, Benjamin and Petrovski, Slavé and Retterer, Kyle and Eichler, Evan E and Rosenfeld, Jill A and Agrawal, Pankaj B and ... and Deciphering Developmental Disorders Study and GEM HUGO and Undiagnosed Diseases Network and Deciphering Dev Dis Study and Undiagnosed Dis Network
American journal of human genetics, ISSN 0002-9297, 11/2017, Volume 101, Issue 5, pp. 768 - 788
Journal Article
by Hengel, Holger and Bosso-Lefèvre, Célia and Grady, George and Szenker-Ravi, Emmanuelle and Li, Hankun and Pierce, Sarah and Lebigot, Élise and Tan, Thong-Teck and Eio, Michelle Y and Narayanan, Gunaseelan and Utami, Kagistia Hana and Yau, Monica and Handal, Nader and Deigendesch, Werner and Keimer, Reinhard and Marzouqa, Hiyam M and Gunay-Aygun, Meral and Muriello, Michael J and Verhelst, Helene and Weckhuysen, Sarah and Mahida, Sonal and Naidu, Sakkubai and Thomas, Terrence G and Lim, Jiin Ying and Tan, Ee Shien and Haye, Damien and Willemsen, Michèl A. A. P and Oegema, Renske and Mitchell, Wendy G and Pierson, Tyler Mark and Andrews, Marisa V and Willing, Marcia C and Rodan, Lance H and Barakat, Tahsin Stefan and van Slegtenhorst, Marjon and Gavrilova, Ralitza H and Martinelli, Diego and Gilboa, Tal and Tamim, Abdullah M and Hashem, Mais O and AlSayed, Moeenaldeen D and Abdulrahim, Maha M and Al-Owain, Mohammed and Awaji, Ali and Mahmoud, Adel A. H and Faqeih, Eissa A and Asmari, Ali Al and Algain, Sulwan M and Jad, Lamyaa A and Aldhalaan, Hesham M and Helbig, Ingo and Koolen, David A and Riess, Angelika and Kraegeloh-Mann, Ingeborg and Bauer, Peter and Gulsuner, Suleyman and Stamberger, Hannah and Ng, Alvin Yu Jin and Tang, Sha and Tohari, Sumanty and Keren, Boris and Schultz-Rogers, Laura E and Klee, Eric W and Barresi, Sabina and Tartaglia, Marco and Mor-Shaked, Hagar and Maddirevula, Sateesh and Begtrup, Amber and Telegrafi, Aida and Pfundt, Rolph and Schüle, Rebecca and Ciruna, Brian and Bonnard, Carine and Pouladi, Mahmoud A and Stewart, James C and Claridge-Chang, Adam and Lefeber, Dirk J and Alkuraya, Fowzan S and Mathuru, Ajay S and Venkatesh, Byrappa and Barycki, Joseph J and Simpson, Melanie A and Jamuar, Saumya S and Schöls, Ludger and Reversade, Bruno
Nature communications, ISSN 2041-1723, 01/2020, Volume 11, Issue 1, pp. 595 - 595
Journal Article
by Cogné, Benjamin and Ehresmann, Sophie and Beauregard-Lacroix, Eliane and Rousseau, Justine and Besnard, Thomas and Garcia, Thomas and Petrovski, Slavé and Avni, Shiri and McWalter, Kirsty and Blackburn, Patrick R and Sanders, Stephan J and Uguen, Kévin and Harris, Jacqueline and Cohen, Julie S and Blyth, Moira and Lehman, Anna and Berg, Jonathan and Li, Mindy H and Kini, Usha and Joss, Shelagh and von der Lippe, Charlotte and Gordon, Christopher T and Humberson, Jennifer B and Robak, Laurie and Scott, Daryl A and Sutton, Vernon R and Skraban, Cara M and Johnston, Jennifer J and Poduri, Annapurna and Nordenskjöld, Magnus and Shashi, Vandana and Gerkes, Erica H and Bongers, Ernie M.H.F and Gilissen, Christian and Zarate, Yuri A and Kvarnung, Malin and Lally, Kevin P and Kulch, Peggy A and Daniels, Brina and Hernandez-Garcia, Andres and Stong, Nicholas and McGaughran, Julie and Retterer, Kyle and Tveten, Kristian and Sullivan, Jennifer and Geisheker, Madeleine R and Stray-Pedersen, Asbjorg and Tarpinian, Jennifer M and Klee, Eric W and Sapp, Julie C and Zyskind, Jacob and Holla, Øystein L and Bedoukian, Emma and Filippini, Francesca and Guimier, Anne and Picard, Arnaud and Busk, Øyvind L and Punetha, Jaya and Pfundt, Rolph and Lindstrand, Anna and Nordgren, Ann and Kalb, Fayth and Desai, Megha and Ebanks, Ashley Harmon and Jhangiani, Shalini N and Dewan, Tammie and Coban Akdemir, Zeynep H and Telegrafi, Aida and Zackai, Elaine H and Begtrup, Amber and Song, Xiaofei and Toutain, Annick and Wentzensen, Ingrid M and Odent, Sylvie and Bonneau, Dominique and Latypova, Xénia and Deb, Wallid and Redon, Sylvia and Bilan, Frédéric and Legendre, Marine and Troyer, Caitlin and Whitlock, Kerri and Caluseriu, Oana and Murphree, Marine I and Pichurin, Pavel N and Agre, Katherine and Gavrilova, Ralitza and Rinne, Tuula and Park, Meredith and Shain, Catherine and Heinzen, Erin L and Xiao, Rui and Amiel, Jeanne and Lyonnet, Stanislas and Isidor, Bertrand and Biesecker, Leslie G and Lowenstein, Dan and Posey, Jennifer E and Denommé-Pichon, Anne-Sophie and Férec, Claude and ... and Deciphering Developmental Disorders study and CAUSES Study and Deciphering Dev Disorders Study
American journal of human genetics, ISSN 0002-9297, 03/2019, Volume 104, Issue 3, pp. 530 - 541
Journal Article
American journal of human genetics, ISSN 0002-9297, 09/2019, Volume 105, Issue 3, pp. 493 - 508
Journal Article
Physical review letters, ISSN 0031-9007, 08/2008, Volume 101, Issue 6, pp. 066806 - 066806
We report the near-edge x-ray absorption fine-structure (NEXAFS) spectrum of a single layer of graphite (graphene) obtained by micromechanical cleavage of... 
Physics, Multidisciplinary | Physical Sciences | Physics | Science & Technology | Physics - Materials Science
Journal Article