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Genetics in medicine, 2020-05, Vol.22 (5), p.857-866
- Ferreira, Carlos R
- Zein, Wadih M
- Huryn, Laryssa A
- Merker, Andrea
- Berger, Seth I
- Wilson, William G
- Tiller, George E
- Wolfe, Lynne A
- Merideth, Melissa
- Carvalho, Daniel R
- Duker, Angela L
- Bratke, Heiko
- Haug, Marte Gjøl
- Rohena, Luis
- Hove, Hanne B
- Xia, Zhi-Jie
- Ng, Bobby G
- Freeze, Hudson H
- Gabriel, Melissa
- Russi, Alvaro H Serrano
- Brick, Lauren
- Kozenko, Mariya
- Earl, Dawn L
- Tham, Emma
- Nishimura, Gen
- Phillips, 3rd, John A
- Gahl, William A
- Hamid, Rizwan
- Jackson, Andrew P
- Grigelioniene, Giedre
- Bober, Michael B
2020
Link zum Volltext
American journal of human genetics, 2018-10, Vol.103 (4), p.553-567
- Ferreira, Carlos R.
- Xia, Zhi-Jie
- Clément, Aurélie
- Parry, David A.
- Davids, Mariska
- Taylan, Fulya
- Sharma, Prashant
- Turgeon, Coleman T.
- Blanco-Sánchez, Bernardo
- Ng, Bobby G.
- Logan, Clare V.
- Wolfe, Lynne A.
- Solomon, Benjamin D.
- Cho, Megan T.
- Douglas, Ganka
- Carvalho, Daniel R.
- Bratke, Heiko
- Haug, Marte Gjøl
- Phillips, Jennifer B.
- Wegner, Jeremy
- Tiemeyer, Michael
- Aoki, Kazuhiro
- Nordgren, Ann
- Hammarsjö, Anna
- Duker, Angela L.
- Rohena, Luis
- Hove, Hanne Buciek
- Ek, Jakob
- Adams, David
- Tifft, Cynthia J.
- Onyekweli, Tito
- Weixel, Tara
- Macnamara, Ellen
- Radtke, Kelly
- Powis, Zöe
- Earl, Dawn
- Gabriel, Melissa
- Russi, Alvaro H. Serrano
- Brick, Lauren
- Kozenko, Mariya
- Tham, Emma
- Raymond, Kimiyo M.
- Phillips, John A.
- Tiller, George E.
- Wilson, William G.
- Hamid, Rizwan
- Malicdan, May C.V.
- Nishimura, Gen
- Grigelioniene, Giedre
- Jackson, Andrew
- Westerfield, Monte
- Bober, Michael B.
- Gahl, William A.
- Freeze, Hudson H.
2018
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Genetics Research International, 2011-01, Vol.2011, p.185271-7
2011
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Neuro-oncology (Charlottesville, Va.), 2016-06, Vol.18 (suppl 3), p.iii103.4-iii103
2016
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Clinical chemistry (Baltimore, Md.), 2018-03, Vol.64 (3), p.611-613
2018
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Genetics in medicine, 2023-08, Vol.25 (8), p.100856-100856, Article 100856
- Caron, Véronique
- Chassaing, Nicolas
- Ragge, Nicola
- Boschann, Felix
- Ngu, Angelina My-Hoa
- Meloche, Elisabeth
- Chorfi, Sarah
- Lakhani, Saquib A.
- Ji, Weizhen
- Steiner, Laurie
- Marcadier, Julien
- Jansen, Philip R.
- van de Pol, Laura A.
- van Hagen, Johanna M.
- Russi, Alvaro Serrano
- Le Guyader, Gwenaël
- Nordenskjöld, Magnus
- Nordgren, Ann
- Anderlid, Britt-Marie
- Plaisancié, Julie
- Stoltenburg, Corinna
- Horn, Denise
- Drenckhahn, Anne
- Hamdan, Fadi F.
- Lefebvre, Mathilde
- Attie-Bitach, Tania
- Forey, Peggy
- Smirnov, Vasily
- Ernould, Françoise
- Jacquemont, Marie-Line
- Grotto, Sarah
- Alcantud, Alberto
- Coret, Alicia
- Ferrer-Avargues, Rosario
- Srivastava, Siddharth
- Vincent-Delorme, Catherine
- Romoser, Shelby
- Safina, Nicole
- Saade, Dimah
- Lupski, James R.
- Calame, Daniel G.
- Geneviève, David
- Chatron, Nicolas
- Schluth-Bolard, Caroline
- Myers, Kenneth A.
- Dobyns, William B.
- Calvas, Patrick
- Salmon, Caroline
- Holt, Richard
- Elmslie, Frances
- Allaire, Marc
- Prigozhin, Daniil M.
- Tremblay, André
- Michaud, Jacques L.
2023
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Journal of inherited metabolic disease, 2020-11, Vol.43 (6), p.1333-1348
- Ng, Bobby G.
- Eklund, Erik A.
- Shiryaev, Sergey A.
- Dong, Yin Y.
- Abbott, Mary‐Alice
- Asteggiano, Carla
- Bamshad, Michael J.
- Barr, Eileen
- Bernstein, Jonathan A.
- Chelakkadan, Shabeed
- Christodoulou, John
- Chung, Wendy K.
- Ciliberto, Michael A.
- Cousin, Janice
- Gardiner, Fiona
- Ghosh, Suman
- Graf, William D.
- Grunewald, Stephanie
- Hammond, Katherine
- Hauser, Natalie S.
- Hoganson, George E.
- Houck, Kimberly M.
- Kohler, Jennefer N.
- Morava, Eva
- Larson, Austin A.
- Liu, Pengfei
- Madathil, Sujana
- McCormack, Colleen
- Meeks, Naomi J.L.
- Miller, Rebecca
- Monaghan, Kristin G.
- Nickerson, Deborah A.
- Palculict, Timothy Blake
- Papazoglu, Gabriela Magali
- Pletcher, Beth A.
- Scheffer, Ingrid E.
- Schenone, Andrea Beatriz
- Schnur, Rhonda E.
- Si, Yue
- Rowe, Leah J.
- Serrano Russi, Alvaro H.
- Russo, Rossana Sanchez
- Thabet, Farouq
- Tuite, Allysa
- Villanueva, María Mercedes
- Wang, Raymond Y.
- Webster, Richard I.
- Wilson, Dorcas
- Zalan, Alice
- Wolfe, Lynne A.
- Rosenfeld, Jill A.
- Rhodes, Lindsay
- Freeze, Hudson H.
2020
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American journal of human genetics, 2020-06, Vol.106 (6), p.830-845
- Tolchin, Dara
- Yeager, Jessica P.
- Prasad, Priya
- Dorrani, Naghmeh
- Russi, Alvaro Serrano
- Martinez-Agosto, Julian A.
- Haseeb, Abdul
- Santen, G.W.E.
- Ruivenkamp, Claudia
- Mercimek-Andrews, Saadet
- Depienne, Christel
- Kuechler, Alma
- Mikat, Barbara
- Ludecke, Hermann-Josef
- Bilan, Frederic
- Le Guyader, Gwenael
- Gilbert-Dussardier, Brigitte
- Keren, Boris
- Heide, Solveig
- Haye, Damien
- Van Esch, Hilde
- Keldermans, Liesbeth
- Lancaster, Emily
- Krantz, Ian D.
- Krock, Bryan L.
- DeChene, Elizabeth T.
- Melistaccio, Giada
- Suri, Mohnish
- Foulds, Nicola
- Bleda, M.
- Boardman-Pretty, F.
- Boissiere, J.M.
- Boustred, C.R.
- Caulfield, M.J.
- Chan, G.C.
- Craig, C.E.H.
- Daugherty, L.C.
- Devereau, A.
- Elgar, G.
- Foulger, R.E.
- Fowler, T.
- Furió-Tarí, P.
- Hackett, J.M.
- Halai, D.
- Holman, J.E.
- Hubbard, T.J.P.
- Lahnstein, L.
- Lawson, K.
- Leigh, S.E.A.
- Leong, I.U.S.
- Maleady-Crowe, F.
- Mason, J.
- McDonagh, E.M.
- Need, A.C.
- Odhams, C.A.
- Perez-Gil, D.
- Polychronopoulos, D.
- Pullinger, J.
- Rahim, T.
- Rendon, A.
- Rogers, T.
- Ryten, M.
- Savage, K.
- Scott, R.H.
- Siddiq, A.
- Sieghart, A.
- Smedley, D.
- Smith, K.R.
- Sosinsky, A.
- Spooner, W.
- Stevens, H.E.
- Stuckey, A.
- Thomas, E.R.A.
- Thompson, S.R.
- Tregidgo, C.
- Tucci, A.
- Walsh, E.
- Welland, M.J.
- Williams, E.
- Witkowska, K.
- Wood, S.M.
- Zarowiecki, M.
- Begtrup, Amber
- Henderson, Lindsay B.
- Forster, Cara
- Reed, Patrick
- McDonald, Marie T.
- McConkie-Rosell, Allyn
- Thevenon, Julien
- Le Tanno, Pauline
- Coutton, Charles
- Stewart, Sarah
- Maver, Ales
- Gorazd, Rudolf
- Pichon, Olivier
- Nizon, Mathilde
- Cogné, Benjamin
- Isidor, Bertrand
- Stoeva, Radka
- Le Caignec, Cédric
2020
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Molecular genetics and metabolism, 2016-09, Vol.119 (1-2), p.75-82
- Bentler, Kristi
- Zhai, Shaohui
- Elsbecker, Sara A.
- Arnold, Georgianne L.
- Burton, Barbara K.
- Vockley, Jerry
- Cameron, Cynthia A.
- Hiner, Sally J.
- Edick, Mathew J.
- Berry, Susan A.
- Thomas, Janet
- Dodge, Melinda
- Singh, Rani
- Lakshman, Sangeetha
- Coakley, Katie
- Stembridge, Adrya
- Russi, Alvaro Serrano
- Phillips, Emily
- Burton, Barbara
- Edano, Clare
- Shrestha, Sheela
- Hoganson, George
- Dwyer, Lauren
- Hainline, Bryan
- Romie, Susan
- Hainline, Sarah
- Asamoah, Alexander
- Goodin, Kara
- Rajakaruna, Cecilia
- Jackson, Kelly
- Hamosh, Ada
- Vernon, Hilary
- Smith, Nancy
- Ahmad, Ayesha
- Lipinski, Sue
- Feldman, Gerald
- Berry, Susan
- Elsbecker, Sara
- Font-Montgomery, Esperanza
- Peck, Dawn
- Pena, Loren D.M.
- Koeberl, Dwight D.
- Jiang, Yong-hui
- Kishnani, Priya S.
- Rizzo, William
- Dawson, Machelle
- Ambrose, Nancy
- Levy, Paul
- Kronn, David
- Fong, Chin-to
- D’Aco, Kristin
- Hart, Theresa
- Erbe, Richard
- Samons, Melissa
- Leslie, Nancy
- Powers, Racheal
- Bartholomew, Dennis
- Goff, Melanie
- vanCalcar, Sandy
- Hansen, Joyanna
- Arnold, Georgianne
- Walsh-Vockley, Cate
- Rhead, William
- Dimmock, David
- Engelking, Paula
- Bird, Cassie
- Swan, Ashley
- Schwoerer, Jessica Scott
- Henry, Sonja
- Narumanchi, TaraChandra
- Hummel, Marybeth
- Wilkins, Jennie
- Davis-Keppen, Laura
- Stein, Quinn
- Loman, Rebecca
- Cameron, Cynthia
- Justice, Kaitlin
2016
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Pediatría, 2014-10, Vol.47 (4), p.101-101
2014
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Pediatría, 2014-10, Vol.47 (4), p.101
2014
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Genetics research international, 2011, Vol.2011, p.185271-185271
2011
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