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American journal of medical genetics. Part A, 2019-07, Vol.179 (7), p.1126-1138
- Raible, Sarah E.
- Mehta, Devanshi
- Bettale, Chiara
- Fiordaliso, Sarah
- Kaur, Maninder
- Medne, Livija
- Rio, Marlene
- Haan, Eric
- White, Susan M.
- Cusmano‐Ozog, Kristina
- Nishi, Eriko
- Guo, Yiran
- Wu, Honglin
- Shi, Xiaoqing
- Zhao, Qingjie
- Zhang, Xueqin
- Lei, Qi
- Lu, Aimei
- He, Xiyu
- Okamoto, Nobuhiko
- Miyake, Noriko
- Piccione, Joseph
- Allen, Julian
- Matsumoto, Naomichi
- Pipan, Mary
- Krantz, Ian D.
- Izumi, Kosuke
2019
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Journal of structural biology, 2021-03, Vol.213 (1), p.107681-107681, Article 107681
2021
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Genetics in medicine, 2019-08, Vol.21 (8), p.1797-1807
- Fountain, Michael D
- Oleson, David S
- Rech, Megan E
- Segebrecht, Lara
- Hunter, Jill V
- McCarthy, John M
- Lupo, Philip J
- Holtgrewe, Manuel
- Moran, Rocio
- Rosenfeld, Jill A
- Isidor, Bertrand
- Le Caignec, Cédric
- Saenz, Margarita S
- Pedersen, Robert C
- Morgan, Thomas M
- Pfotenhauer, Jean P
- Xia, Fan
- Bi, Weimin
- Kang, Sung-Hae L
- Patel, Ankita
- Krantz, Ian D
- Raible, Sarah E
- Smith, Wendy
- Cristian, Ingrid
- Torti, Erin
- Juusola, Jane
- Millan, Francisca
- Wentzensen, Ingrid M
- Person, Richard E
- Küry, Sébastien
- Bézieau, Stéphane
- Uguen, Kévin
- Férec, Claude
- Munnich, Arnold
- van Haelst, Mieke
- Lichtenbelt, Klaske D
- van Gassen, Koen
- Hagelstrom, Tanner
- Chawla, Aditi
- Perry, Denise L
- Taft, Ryan J
- Jones, Marilyn
- Masser-Frye, Diane
- Dyment, David
- Venkateswaran, Sunita
- Li, Chumei
- Escobar, Luis F
- Horn, Denise
- Spillmann, Rebecca C
- Peña, Loren
- Wierzba, Jolanta
- Strom, Tim M
- Parenti, Ilaria
- Kaiser, Frank J
- Ehmke, Nadja
- Schaaf, Christian P
2019
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Genetics in medicine, 2018-12, Vol.20 (12), p.1663-1676
- Sheppard, Sarah
- Biswas, Sawona
- Li, Mindy H.
- Jayaraman, Vijayakumar
- Slack, Ian
- Romasko, Edward J.
- Sasson, Ariella
- Brunton, Joshua
- Rajagopalan, Ramakrishnan
- Sarmady, Mahdi
- Abrudan, Jenica L.
- Jairam, Sowmya
- DeChene, Elizabeth T.
- Ying, Xiahoan
- Choi, Jiwon
- Wilkens, Alisha
- Raible, Sarah E.
- Scarano, Maria I.
- Santani, Avni
- Pennington, Jeffrey W.
- Luo, Minjie
- Conlin, Laura K.
- Devkota, Batsal
- Dulik, Matthew C.
- Spinner, Nancy B.
- Krantz, Ian D.
2018
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Pediatrics (Evanston), 2020-03, Vol.145 (3), p.1
- Biswas, Sawona
- Medne, Livija
- Devkota, Batsal
- Bedoukian, Emma
- Berrodin, Donna
- Izumi, Kosuke
- Deardorff, Matthew A
- Tarpinian, Jennifer
- Leonard, Jacqueline
- Pyle, Loiusa
- Gray, Christopher
- Montgomery, Jasmine
- Williams, Tyrah
- Fortunato, Sierra
- Weatherly, Jamila
- McEldrew, Deborah
- Kaur, Manindar
- Raible, Sarah E
- Wilkens, Alisha
- Spinner, Nancy B
- Skraban, Cara
- Krantz, Ian D
2020
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American journal of human genetics, 2020-07, Vol.107 (1), p.164-172
- Vissers, Lisenka E.L.M.
- Kalvakuri, Sreehari
- de Boer, Elke
- Geuer, Sinje
- Oud, Machteld
- van Outersterp, Inge
- Kwint, Michael
- Witmond, Melde
- Kersten, Simone
- Polla, Daniel L.
- Weijers, Dilys
- Begtrup, Amber
- McWalter, Kirsty
- Ruiz, Anna
- Gabau, Elisabeth
- Morton, Jenny E.V.
- Griffith, Christopher
- Weiss, Karin
- Gamble, Candace
- Bartley, James
- Vernon, Hilary J.
- Brunet, Kendra
- Ruivenkamp, Claudia
- Kant, Sarina G.
- Kruszka, Paul
- Larson, Austin
- Afenjar, Alexandra
- Billette de Villemeur, Thierry
- Nugent, Kimberly
- Raymond, F. Lucy
- Venselaar, Hanka
- Demurger, Florence
- Soler-Alfonso, Claudia
- Li, Dong
- Bhoj, Elizabeth
- Hayes, Ian
- Hamilton, Nina Powell
- Ahmad, Ayesha
- Fisher, Rachel
- van den Born, Myrthe
- Willems, Marjolaine
- Sorlin, Arthur
- Delanne, Julian
- Moutton, Sebastien
- Christophe, Philippe
- Mau-Them, Frederic Tran
- Vitobello, Antonio
- Goel, Himanshu
- Massingham, Lauren
- Phornphutkul, Chanika
- Schwab, Jennifer
- Keren, Boris
- Charles, Perrine
- Vreeburg, Maaike
- De Simone, Lenika
- Hoganson, George
- Iascone, Maria
- Milani, Donatella
- Evenepoel, Lucie
- Revencu, Nicole
- Ward, D. Isum
- Burns, Kaitlyn
- Krantz, Ian
- Raible, Sarah E.
- Murrell, Jill R.
- Wood, Kathleen
- Cho, Megan T.
- van Bokhoven, Hans
- Muenke, Maximilian
- Kleefstra, Tjitske
- Bodmer, Rolf
- de Brouwer, Arjan P.M.
2020
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American journal of medical genetics. Part A, 2023-08, Vol.191 (8), p.2113-2131
- Kaur, Maninder
- Blair, Justin
- Devkota, Batsal
- Fortunato, Sierra
- Clark, Dinah
- Lawrence, Audrey
- Kim, Jiwoo
- Do, Wonwook
- Semeo, Benjamin
- Katz, Olivia
- Mehta, Devanshi
- Yamamoto, Nobuko
- Schindler, Emma
- Al Rawi, Zayd
- Wallace, Nina
- Wilde, Jonathan J.
- McCallum, Jennifer
- Liu, Jinglan
- Xu, Dongbin
- Jackson, Marie
- Rentas, Stefan
- Tayoun, Ahmad Abou
- Zhe, Zhang
- Abdul‐Rahman, Omar
- Allen, Bill
- Angula, Moris A.
- Anyane‐Yeboa, Kwame
- Argente, Jesús
- Arn, Pamela H.
- Armstrong, Linlea
- Basel‐Salmon, Lina
- Baynam, Gareth
- Bird, Lynne M.
- Bruegger, Daniel
- Ch'ng, Gaik‐Siew
- Chitayat, David
- Clark, Robin
- Cox, Gerald F.
- Dave, Usha
- DeBaere, Elfrede
- Field, Michael
- Graham Jr, John M.
- Gripp, Karen W.
- Greenstein, Robert
- Gupta, Neerja
- Heidenreich, Randy
- Hoffman, Jodi
- Hopkin, Robert J.
- Jones, Kenneth L.
- Jones, Marilyn C.
- Kariminejad, Ariana
- Kogan, Jillene
- Lace, Baiba
- Leroy, Julian
- Lynch, Sally Ann
- McDonald, Marie
- Meagher, Kirsten
- Mendelsohn, Nancy
- Micule, Ieva
- Moeschler, John
- Nampoothiri, Sheela
- Ohashi, Kaoru
- Powell, Cynthia M.
- Ramanathan, Subhadra
- Raskin, Salmo
- Roeder, Elizabeth
- Rio, Marlene
- Rope, Alan F.
- Sangha, Karan
- Scheuerle, Angela E.
- Schneider, Adele
- Shalev, Stavit
- Siu, Victoria
- Smith, Rosemarie
- Stevens, Cathy
- Tkemaladze, Tinatin
- Toimie, John
- Toriello, Helga
- Turner, Anne
- Wheeler, Patricia G.
- White, Susan M.
- Young, Terri
- Loomes, Kathleen M.
- Pipan, Mary
- Harrington, Ann Tokay
- Zackai, Elaine
- Rajagopalan, Ramakrishnan
- Conlin, Laura
- Deardorff, Matthew A.
- McEldrew, Deborah
- Pie, Juan
- Ramos, Feliciano
- Musio, Antonio
- Kline, Antonie D.
- Izumi, Kosuke
- Raible, Sarah E.
- Krantz, Ian D.
2023
Link zum Volltext
Cassidy and Allanson's Management of Genetic Syndromes, 2021, p.717-733
2021
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PLoS genetics, 2019-04, Vol.15 (4), p.e1008051-e1008051
2019
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Brain (London, England : 1878), 2013-09, Vol.136 (Pt 9), p.2697-2706
2013
Link zum Volltext
American journal of medical genetics. Part A, 2019-06, Vol.179 (6), p.1080-1090
- Kline, Antonie D.
- Krantz, Ian D.
- Bando, Masashige
- Shirahige, Katsuhiko
- Chea, Stephenson
- Sakata, Toyonori
- Rao, Suhas
- Dorsett, Dale
- Singh, Vijay Pratap
- Gerton, Jennifer L.
- Horsfield, Julia A.
- Calof, Anne L.
- Katz, Olivia
- Grados, Marco
- Raible, Sarah
- Barañano, Kristin
- Lyon, Gholson
- Musio, Antonio
- Carrico, Cheri S.
- Clemens, Douglas K.
- Caudill, Patti
- Massa, Valentina
- McGill, Bryan E.
- Dommestrup, Aila
- O'Connor, Julia
- Haaland, Richard E.
2019
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Radiology, 1999-10, Vol.213 (1), p.223
1999
Link zum Volltext
JAMA cardiology, 2023-10, Vol.8 (10), p.904
- Douglas, Pamela S
- Nanna, Michael G
- Kelsey, Michelle D
- Yow, Eric
- Mark, Daniel B
- Patel, Manesh R
- Rogers, Campbell
- Udelson, James E
- Fordyce, Christopher B
- Curzen, Nick
- Pontone, Gianluca
- Maurovich-Horvat, Pál
- De Bruyne, Bernard
- Greenwood, John P
- Marinescu, Victor
- Leipsic, Jonathon
- Stone, Gregg W
- Ben-Yehuda, Ori
- Berry, Colin
- Hogan, Shea E
- Redfors, Bjorn
- Ali, Ziad A
- Byrne, Robert A
- Kramer, Christopher M
- Yeh, Robert W
- Martinez, Beth
- Mullen, Sarah
- Huey, Whitney
- Anstrom, Kevin J
- Al-Khalidi, Hussein R
- Vemulapalli, Sreekanth
2023
Link zum Volltext
HGG advances, 2024-04, Vol.5 (2), p.100273-100273, Article 100273
- Ansari, Morad
- Faour, Kamli N.W.
- Shimamura, Akiko
- Grimes, Graeme
- Kao, Emeline M.
- Denhoff, Erica R.
- Blatnik, Ana
- Ben-Isvy, Daniel
- Wang, Lily
- Helm, Benjamin M.
- Firth, Helen
- Breman, Amy M.
- Bijlsma, Emilia K.
- Iwata-Otsubo, Aiko
- de Ravel, Thomy J.L.
- Fusaro, Vincent
- Fryer, Alan
- Nykamp, Keith
- Stühn, Lara G.
- Haack, Tobias B.
- Korenke, G. Christoph
- Constantinou, Panayiotis
- Bujakowska, Kinga M.
- Low, Karen J.
- Place, Emily
- Humberson, Jennifer
- Napier, Melanie P.
- Hoffman, Jessica
- Juusola, Jane
- Deardorff, Matthew A.
- Shao, Wanqing
- Rockowitz, Shira
- Krantz, Ian
- Kaur, Maninder
- Raible, Sarah
- Dortenzio, Victoria
- Kliesch, Sabine
- Singer-Berk, Moriel
- Groopman, Emily
- DiTroia, Stephanie
- Ballal, Sonia
- Srivastava, Siddharth
- Rothfelder, Kathrin
- Biskup, Saskia
- Rzasa, Jessica
- Kerkhof, Jennifer
- McConkey, Haley
- Sadikovic, Bekim
- Hilton, Sarah
- Banka, Siddharth
- Tüttelmann, Frank
- Conrad, Donald F.
- O’Donnell-Luria, Anne
- Talkowski, Michael E.
- FitzPatrick, David R.
- Boone, Philip M.
2024
Link zum Volltext
JAMA cardiology, 2023-10, Vol.8 (10), p.915
- Udelson, James E
- Kelsey, Michelle D
- Nanna, Michael G
- Fordyce, Christopher B
- Yow, Eric
- Clare, Robert M
- Mark, Daniel B
- Patel, Manesh R
- Rogers, Campbell
- Curzen, Nick
- Pontone, Gianluca
- Maurovich-Horvat, Pál
- De Bruyne, Bernard
- Greenwood, John P
- Marinescu, Victor
- Leipsic, Jonathon
- Stone, Gregg W
- Ben-Yehuda, Ori
- Berry, Colin
- Hogan, Shea E
- Redfors, Bjorn
- Ali, Ziad A
- Byrne, Robert A
- Kramer, Christopher M
- Yeh, Robert W
- Martinez, Beth
- Mullen, Sarah
- Huey, Whitney
- Anstrom, Kevin J
- Al-Khalidi, Hussein R
- Chiswell, Karen
- Vemulapalli, Sreekanth
- Douglas, Pamela S
2023
Link zum Volltext
Nucleic acids research, 1998-08, Vol.26 (16), p.3813
1998
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