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EMBO molecular medicine, 2021-05, Vol.13 (5), p.e13258-n/a
- van der Welle, Reini E N
- Jobling, Rebekah
- Burns, Christian
- Sanza, Paolo
- van der Beek, Jan A
- Fasano, Alfonso
- Chen, Lan
- Zwartkruis, Fried J
- Zwakenberg, Susan
- Griffin, Edward F
- ten Brink, Corlinda
- Veenendaal, Tineke
- Liv, Nalan
- van Ravenswaaij‐Arts, Conny M A
- Lemmink, Henny H
- Pfundt, Rolph
- Blaser, Susan
- Sepulveda, Carolina
- Lozano, Andres M
- Yoon, Grace
- Santiago‐Sim, Teresa
- Asensio, Cedric S
- Caldwell, Guy A
- Caldwell, Kim A
- Chitayat, David
- Klumperman, Judith
2021
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American journal of medical genetics. Part A, 2022-09, Vol.188 (9), p.2750-2759
- O'Grady, Lauren
- Schrier Vergano, Samantha A.
- Hoffman, Trevor L.
- Sarco, Dean
- Cherny, Sara
- Bryant, Emily
- Schultz‐Rogers, Laura
- Chung, Wendy K.
- Sacharow, Stephanie
- Immken, Ladonna L.
- Holder, Susan
- Blackwell, Rebecca R.
- Buchanan, Catherine
- Yusupov, Roman
- Lecoquierre, François
- Guerrot, Anne‐Marie
- Rodan, Lance
- Vries, Bert B. A.
- Kamsteeg, Erik Jan
- Santos Simarro, Fernando
- Palomares‐Bralo, Maria
- Brown, Natasha
- Pais, Lynn
- Ferrer, Alejandro
- Klee, Eric W.
- Babovic‐Vuksanovic, Dusica
- Rhodes, Lindsay
- Person, Richard
- Begtrup, Amber
- Keller‐Ramey, Jennifer
- Santiago‐Sim, Teresa
- Schnur, Rhonda E.
- Sweetser, David A.
- Gold, Nina B.
2022
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HGG advances, 2022-01, Vol.3 (1), p.100072-100072, Article 100072
2022
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Molecular brain, 2015-11, Vol.8 (1), p.75-75, Article 75
2015
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JAMA pediatrics, 2017-12, Vol.171 (12), p.e173438
- Meng, Linyan
- Pammi, Mohan
- Saronwala, Anirudh
- Magoulas, Pilar
- Ghazi, Andrew Ray
- Vetrini, Francesco
- Zhang, Jing
- He, Weimin
- Dharmadhikari, Avinash V
- Qu, Chunjing
- Ward, Patricia
- Braxton, Alicia
- Narayanan, Swetha
- Ge, Xiaoyan
- Tokita, Mari J
- Santiago-Sim, Teresa
- Dai, Hongzheng
- Chiang, Theodore
- Smith, Hadley
- Azamian, Mahshid S
- Robak, Laurie
- Bostwick, Bret L
- Schaaf, Christian P
- Potocki, Lorraine
- Scaglia, Fernando
- Bacino, Carlos A
- Hanchard, Neil A
- Wangler, Michael F
- Scott, Daryl
- Brown, Chester
- Hu, Jianhong
- Belmont, John W
- Burrage, Lindsay C
- Graham, Brett H
- Sutton, Vernon Reid
- Craigen, William J
- Plon, Sharon E
- Lupski, James R
- Beaudet, Arthur L
- Gibbs, Richard A
- Muzny, Donna M
- Miller, Marcus J
- Wang, Xia
- Leduc, Magalie S
- Xiao, Rui
- Liu, Pengfei
- Shaw, Chad
- Walkiewicz, Magdalena
- Bi, Weimin
- Xia, Fan
- Lee, Brendan
- Eng, Christine M
- Yang, Yaping
- Lalani, Seema R
2017
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Nature communications, 2019-07, Vol.10 (1), p.3094-16, Article 3094
- Salpietro, Vincenzo
- Dixon, Christine L
- Guo, Hui
- Bello, Oscar D
- Vandrovcova, Jana
- Efthymiou, Stephanie
- Maroofian, Reza
- Heimer, Gali
- Burglen, Lydie
- Valence, Stephanie
- Torti, Erin
- Hacke, Moritz
- Rankin, Julia
- Tariq, Huma
- Colin, Estelle
- Procaccio, Vincent
- Striano, Pasquale
- Mankad, Kshitij
- Lieb, Andreas
- Chen, Sharon
- Pisani, Laura
- Bettencourt, Conceicao
- Männikkö, Roope
- Manole, Andreea
- Brusco, Alfredo
- Grosso, Enrico
- Ferrero, Giovanni Battista
- Armstrong-Moron, Judith
- Gueden, Sophie
- Bar-Yosef, Omer
- Tzadok, Michal
- Monaghan, Kristin G
- Santiago-Sim, Teresa
- Person, Richard E
- Cho, Megan T
- Willaert, Rebecca
- Yoo, Yongjin
- Chae, Jong-Hee
- Quan, Yingting
- Wu, Huidan
- Wang, Tianyun
- Bernier, Raphael A
- Xia, Kun
- Blesson, Alyssa
- Jain, Mahim
- Motazacker, Mohammad M
- Jaeger, Bregje
- Schneider, Amy L
- Boysen, Katja
- Muir, Alison M
- Myers, Candace T
- Gavrilova, Ralitza H
- Gunderson, Lauren
- Schultz-Rogers, Laura
- Klee, Eric W
- Dyment, David
- Osmond, Matthew
- Parellada, Mara
- Llorente, Cloe
- Gonzalez-Peñas, Javier
- Carracedo, Angel
- Van Haeringen, Arie
- Ruivenkamp, Claudia
- Nava, Caroline
- Heron, Delphine
- Nardello, Rosaria
- Iacomino, Michele
- Minetti, Carlo
- Skabar, Aldo
- Fabretto, Antonella
- Raspall-Chaure, Miquel
- Chez, Michael
- Tsai, Anne
- Fassi, Emily
- Shinawi, Marwan
- Constantino, John N
- De Zorzi, Rita
- Fortuna, Sara
- Kok, Fernando
- Keren, Boris
- Bonneau, Dominique
- Choi, Murim
- Benzeev, Bruria
- Zara, Federico
- Mefford, Heather C
- Scheffer, Ingrid E
- Clayton-Smith, Jill
- Macaya, Alfons
- Rothman, James E
- Eichler, Evan E
- Kullmann, Dimitri M
- Houlden, Henry
2019
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Brain (London, England : 1878), 2022-05, Vol.145 (4), p.1299-1309
- Ahring, Philip K
- Liao, Vivian W Y
- Gardella, Elena
- Johannesen, Katrine M
- Krey, Ilona
- Selmer, Kaja K
- Stadheim, Barbro F
- Davis, Hannah
- Peinhardt, Charlotte
- Koko, Mahmoud
- Coorg, Rohini K
- Syrbe, Steffen
- Bertsche, Astrid
- Santiago-Sim, Teresa
- Diemer, Tue
- Fenger, Christina D
- Platzer, Konrad
- Eichler, Evan E
- Lerche, Holger
- Lemke, Johannes R
- Chebib, Mary
- Møller, Rikke S
2022
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Stroke (1970), 2015-02, Vol.46 (suppl_1)
2015
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American journal of human genetics, 2023-08, Vol.110 (8), p.1394-1413
- Calame, Daniel G.
- Guo, Tianyu
- Wang, Chen
- Garrett, Lillian
- Jolly, Angad
- Dawood, Moez
- Kurolap, Alina
- Henig, Noa Zunz
- Fatih, Jawid M.
- Herman, Isabella
- Du, Haowei
- Mitani, Tadahiro
- Becker, Lore
- Rathkolb, Birgit
- Gerlini, Raffaele
- Seisenberger, Claudia
- Marschall, Susan
- Hunter, Jill V.
- Gerard, Amanda
- Heidlebaugh, Alexis
- Challman, Thomas
- Spillmann, Rebecca C.
- Jhangiani, Shalini N.
- Coban-Akdemir, Zeynep
- Lalani, Seema
- Liu, Lingxiao
- Revah-Politi, Anya
- Iglesias, Alejandro
- Guzman, Edwin
- Baugh, Evan
- Boddaert, Nathalie
- Rondeau, Sophie
- Ormieres, Clothide
- Barcia, Giulia
- Tan, Queenie K.G.
- Thiffault, Isabelle
- Pastinen, Tomi
- Sheikh, Kazim
- Biliciler, Suur
- Mei, Davide
- Melani, Federico
- Shashi, Vandana
- Yaron, Yuval
- Steele, Mary
- Wakeling, Emma
- Østergaard, Elsebet
- Nazaryan-Petersen, Lusine
- Millan, Francisca
- Santiago-Sim, Teresa
- Thevenon, Julien
- Bruel, Ange-Line
- Thauvin-Robinet, Christel
- Popp, Denny
- Platzer, Konrad
- Gawlinski, Pawel
- Wiszniewski, Wojciech
- Marafi, Dana
- Pehlivan, Davut
- Posey, Jennifer E.
- Gibbs, Richard A.
- Gailus-Durner, Valerie
- Guerrini, Renzo
- Fuchs, Helmut
- Hrabě de Angelis, Martin
- Hölter, Sabine M.
- Cheung, Hoi-Hung
- Gu, Shen
- Lupski, James R.
2023
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Genetics in medicine, 2019-03, Vol.21 (3), p.663-675
- Yuan, Bo
- Neira, Juanita
- Pehlivan, Davut
- Santiago-Sim, Teresa
- Song, Xiaofei
- Rosenfeld, Jill
- Posey, Jennifer E
- Patel, Vipulkumar
- Jin, Weihong
- Adam, Margaret P
- Baple, Emma L
- Dean, John
- Fong, Chin-To
- Hickey, Scott E
- Hudgins, Louanne
- Leon, Eyby
- Madan-Khetarpal, Suneeta
- Rawlins, Lettie
- Rustad, Cecilie F
- Stray-Pedersen, Asbjørg
- Tveten, Kristian
- Wenger, Olivia
- Diaz, Jullianne
- Jenkins, Laura
- Martin, Laura
- McGuire, Marianne
- Pietryga, Marguerite
- Ramsdell, Linda
- Slattery, Leah
- Abid, Farida
- Bertuch, Alison A
- Grange, Dorothy
- Immken, LaDonna
- Schaaf, Christian P
- Van Esch, Hilde
- Bi, Weimin
- Cheung, Sau Wai
- Breman, Amy M
- Smith, Janice L
- Shaw, Chad
- Crosby, Andrew H
- Eng, Christine
- Yang, Yaping
- Lupski, James R
- Xiao, Rui
- Liu, Pengfei
2019
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Genetics in medicine, 2021-03, Vol.23 (3), p.534-542
2021
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American journal of human genetics, 2017-04, Vol.100 (4), p.676-688
- Santiago-Sim, Teresa
- Burrage, Lindsay C.
- Ebstein, Frédéric
- Tokita, Mari J.
- Miller, Marcus
- Bi, Weimin
- Braxton, Alicia A.
- Rosenfeld, Jill A.
- Shahrour, Maher
- Lehmann, Andrea
- Cogné, Benjamin
- Küry, Sébastien
- Besnard, Thomas
- Isidor, Bertrand
- Bézieau, Stéphane
- Hazart, Isabelle
- Nagakura, Honey
- Immken, LaDonna L.
- Littlejohn, Rebecca O.
- Roeder, Elizabeth
- Afawi, Zaid
- Balling, Rudi
- Barisic, Nina
- Baulac, Stéphanie
- Craiu, Dana
- De Jonghe, Peter
- Guerrero-Lopez, Rosa
- Guerrini, Renzo
- Helbig, Ingo
- Hjalgrim, Helle
- Jähn, Johanna
- Klein, Karl Martin
- Leguern, Eric
- Lerche, Holger
- Marini, Carla
- Muhle, Hiltrud
- Rosenow, Felix
- Serratosa, José
- Sterbová, Katalin
- Suls, Arvid
- Moller, Rikke S.
- Striano, Pasquale
- Weber, Yvonne
- Zara, Federico
- Kara, Bulent
- Hardies, Katia
- Weckhuysen, Sarah
- May, Patrick
- Lemke, Johannes R.
- Elpeleg, Orly
- Abu-Libdeh, Bassam
- James, Kiely N.
- Silhavy, Jennifer L.
- Issa, Mahmoud Y.
- Zaki, Maha S.
- Gleeson, Joseph G.
- Seavitt, John R.
- Dickinson, Mary E.
- Ljungberg, M. Cecilia
- Wells, Sara
- Johnson, Sara J.
- Teboul, Lydia
- Eng, Christine M.
- Yang, Yaping
- Kloetzel, Peter-Michael
- Heaney, Jason D.
- Walkiewicz, Magdalena A.
2017
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Genetics in medicine, 2023-07, Vol.25 (7), p.100859, Article 100859
- von Wintzingerode, Lydia
- Ben-Zeev, Bruria
- Cesario, Claudia
- Chan, Katie M.
- Depienne, Christel
- Elpeleg, Orly
- Iascone, Maria
- Kelley, Whitley V.
- Nassogne, Marie-Cécile
- Niceta, Marcello
- Pezzani, Lidia
- Rahner, Nils
- Revencu, Nicole
- Bekheirnia, Mir Reza
- Santiago-Sim, Teresa
- Tartaglia, Marco
- Thompson, Michelle L.
- Trivisano, Marina
- Hentschel, Julia
- Sticht, Heinrich
- Abou Jamra, Rami
- Oppermann, Henry
2023
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American journal of human genetics, 2020-12, Vol.107 (6), p.1170-1177
- Duncan, Anna R.
- Vitobello, Antonio
- Collins, Stephan C.
- Vancollie, Valerie E.
- Lelliott, Christopher J.
- Rodan, Lance
- Shi, Jiahai
- Seman, Ann R.
- Agolini, Emanuele
- Novelli, Antonio
- Prontera, Paolo
- Guillen Sacoto, Maria J.
- Santiago-Sim, Teresa
- Trimouille, Aurélien
- Goizet, Cyril
- Nizon, Mathilde
- Bruel, Ange-Line
- Philippe, Christophe
- Grant, Patricia E.
- Wojcik, Monica H.
- Stoler, Joan
- Genetti, Casie A.
- van Dooren, Marieke F.
- Maas, Saskia M.
- Alders, Marielle
- Faivre, Laurence
- Sorlin, Arthur
- Yoon, Grace
- Yalcin, Binnaz
- Agrawal, Pankaj B.
2020
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Stroke (1970), 2016-12, Vol.47 (12), p.3005-3013
- Santiago-Sim, Teresa
- Fang, Xiaoqian
- Hennessy, Morgan L
- Nalbach, Stephen V
- DePalma, Steven R
- Lee, Ming Sum
- Greenway, Steven C
- McDonough, Barbara
- Hergenroeder, Georgene W
- Patek, Kyla J
- Colosimo, Sarah M
- Qualmann, Krista J
- Hagan, John P
- Milewicz, Dianna M
- MacRae, Calum A
- Dymecki, Susan M
- Seidman, Christine E
- Seidman, J.G
- Kim, Dong H
2016
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Stroke (1970), 2009-05, Vol.40 (5), p.1604-1611
2009
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Progress in transplantation (Aliso Viejo, Calif.), 2012-06, Vol.22 (2), p.192-198
2012
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Stroke (1970), 2009-03, Vol.40 (3), p.S57-S60
2009
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American journal of medical genetics. Part A, 2022, Vol.188 (9), p.2750-2759
- O'Grady, Lauren
- Schrier Vergano, Samantha A
- Hoffman, Trevor L
- Sarco, Dean
- Cherny, Sara
- Bryant, Emily
- Schultz-Rogers, Laura
- Chung, Wendy K
- Sacharow, Stephanie
- Immken, Ladonna L
- Holder, Susan
- Blackwell, Rebecca R
- Buchanan, Catherine
- Yusupov, Roman
- Lecoquierre, François
- Guerrot, Anne-Marie
- Rodan, Lance
- de Vries, Bert B A
- Kamsteeg, Erik Jan
- Santos Simarro, Fernando
- Palomares-Bralo, Maria
- Brown, Natasha
- Pais, Lynn
- Ferrer, Alejandro
- Klee, Eric W
- Babovic-Vuksanovic, Dusica
- Rhodes, Lindsay
- Person, Richard
- Begtrup, Amber
- Keller-Ramey, Jennifer
- Santiago-Sim, Teresa
- Schnur, Rhonda E
- Sweetser, David A
- Gold, Nina B
2022
Link zum Volltext
Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders, 2017, p.305-320
2017
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