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Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...Science (American Association for the Advancement of Science), 2016-07, Vol.353 (6297), p.389-394
2016
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Nature biotechnology, 2012-02, Vol.30 (2), p.190-192
2012
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Nature communications, 2019-09, Vol.10 (1), p.4272-17, Article 4272
- Brouwer, Philip J. M.
- Antanasijevic, Aleksandar
- Berndsen, Zachary
- Yasmeen, Anila
- Fiala, Brooke
- Bijl, Tom P. L.
- Bontjer, Ilja
- Bale, Jacob B.
- Sheffler, William
- Allen, Joel D.
- Schorcht, Anna
- Burger, Judith A.
- Camacho, Miguel
- Ellis, Daniel
- Cottrell, Christopher A.
- Behrens, Anna-Janina
- Catalano, Marco
- del Moral-Sánchez, Iván
- Ketas, Thomas J.
- LaBranche, Celia
- van Gils, Marit J.
- Sliepen, Kwinten
- Stewart, Lance J.
- Crispin, Max
- Montefiori, David C.
- Baker, David
- Moore, John P.
- Klasse, Per Johan
- Ward, Andrew B.
- King, Neil P.
- Sanders, Rogier W.
2019
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Nature (London), 2014-06, Vol.510 (7503), p.103-108
2014
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Nature (London), 2016-07, Vol.535 (7610), p.136-139
2016
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Nature (London), 2017-12, Vol.552 (7685), p.415-420
2017
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Protein science, 2015-10, Vol.24 (10), p.1695-1701
2015
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Nature (London), 2016-12, Vol.540 (7631), p.150-150
2016
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Nature (London), 2016-12, Vol.540 (7631), p.150-150
2016
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Nature (London), 2014-05, Vol.510 (7503), p.103-108
2014
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Biophysical journal, 2014-01, Vol.106 (2), p.445a-445a
2014
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Nature biotechnology, 2012-01, Vol.30 (2), p.190-192
2012
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Nature (London), 2016-07, Vol.535 (7610), p.136
2016
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Proceedings of the National Academy of Sciences - PNAS, 2015-03, Vol.112 (12), p.3704-3709
2015
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American journal of human genetics, 2019-06, Vol.104 (6), p.1127-1138
- Becerril, Alissa
- Larson, Austin
- Zerfas, Patricia M.
- Acosta, Maria T.
- Agrawal, Pankaj
- Alejandro, Mercedes E.
- Andrews, Ashley
- Bacino, Carlos A.
- Bademci, Guney
- Baker, Eva
- Baldridge, Dustin
- Bale, Jim
- Barbouth, Deborah
- Batzli, Gabriel F.
- Bayrak-Toydemir, Pinar
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- Birch, Camille L.
- Bivona, Stephanie
- Bohnsack, John
- Bonnenmann, Carsten
- Bostwick, Bret L.
- Brokamp, Elly
- Burrage, Lindsay C.
- Carey, John
- Clark, Gary D.
- Cope, Heidi
- Dasari, Surendra
- Dayal, Jyoti G.
- Dorset, Daniel C.
- Eng, Christine M.
- Esteves, Cecilia
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- Goldman, Alica M.
- Goldstein, David B.
- Groden, Catherine A.
- Haendel, Melissa
- Hayes, Nichole
- Holm, Ingrid A.
- Jiang, Yong-hui
- Johnston, Jean M.
- Jones, Angela L.
- Kohane, Isaac S.
- Krakow, Deborah
- Krasnewich, Donna M.
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- Lam, Byron
- Lazar, Jozef
- Levy, Shawn E.
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- Martínez-Agosto, Julian A.
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- Might, Matthew
- Morava-Kozicz, Eva
- Murdock, David R.
- Nath, Avi
- Nelson, Stan F.
- Newman, John H.
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- Pace, Laura
- Papp, Jeanette C.
- Parker, Neil H.
- Potocki, Lorraine
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- Wahl, Colleen E.
- Wan, Jijun
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- Yamamoto, Shinya
- Zuchner, Stephan
- Day-Salvatore, Debra L.
- Mindell, Joseph A.
2019
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American journal of human genetics, 2020-04, Vol.106 (4), p.570-583
- Mao, Dongxue
- Reuter, Chloe M.
- Farrow, Emily G.
- Rosenfeld, Jill A.
- Mackenzie, Katherine M.
- Küry, Sébastien
- Genetti, Casie A.
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- Agrawal, Pankaj B.
- Alvey, Justin
- Ashley, Euan A.
- Balasubramanyam, Ashok
- Beck, Anita
- Bellen, Hugo J.
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- Burke, Elizabeth A.
- Butte, Manish J.
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- Cogan, Joy D.
- Cole, F. Sessions
- Colley, Heather A.
- Cooper, Cynthia M.
- Craigen, William J.
- Cunningham, Michael
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- Dayal, Jyoti G.
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- Emrick, Lisa T.
- Estwick, Tyra
- Ferreira, Carlos
- Fieg, Elizabeth L.
- Fogel, Brent L.
- Forghani, Irman
- Gahl, William A.
- Godfrey, Rena A.
- Goldman, Alica M.
- Hahn, Sihoun
- Hanchard, Neil A.
- Hing, Anne
- Holm, Ingrid A.
- Huang, Yong
- Jamal, Fariha
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- Kelley, Emily G.
- Kohane, Isaac S.
- Kohler, Jennefer N.
- Krakow, Deborah
- Korrick, Susan
- Koziura, Mary
- Krier, Joel B.
- Lam, Byron
- Lanpher, Brendan C.
- Lanza, Ian R.
- Lee, Brendan H.
- Lewis, Richard A.
- Loo, Sandra K.
- Majcherska, Marta M.
- Malicdan, May Christine V.
- Mamounas, Laura A.
- Markello, Thomas C.
- Martin, Martin G.
- Martínez-Agosto, Julian A.
- McCormack, Colleen E.
- Merritt, J. Lawrence
- Moretti, Paolo M.
- Mulvihill, John J.
- Murdock, David R.
- Nickerson, Deborah
- Pallais, J. Carl
- Posey, Jennifer E.
- Potocki, Lorraine
- Raja, Archana N.
- Renteria, Genecee
- Samson, Susan L.
- Schedl, Timothy
- Shakachite, Lisa
- Signer, Rebecca
- Silverman, Edwin K.
- Sybert, Virginia
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- Thorson, Willa
- Tran, Alyssa A.
- Urv, Tiina K.
- Wahl, Colleen E.
- Wegner, Daniel
- Wheeler, Matthew T.
- Yamamoto, Shinya
- Yang, John
- Yoon, Amanda J.
- Yu, Guoyun
- Zastrow, Diane B.
- Zhao, Chunli
- Bernstein, Jonathan A.
- Chao, Hsiao-Tuan
2020
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Annals of the rheumatic diseases, 2022-10, Vol.81 (10), p.1453-1464
- Kodati, Shilpa
- Mattapallil, Mary J
- Tian, Xiaoying
- Soldatos, Ariane
- Kao-Hsieh, Marie
- Cowen, Edward W
- Kalsi, Shelley
- Khavandgar, Zohreh
- Rosenzweig, Sofia
- Romeo, Tina
- Sen, Nida
- Dusser, Perrine
- Touitou, Isabelle
- Titah, Salah Mohamed
- van der Spek, Peter J
- Apalset, Ellen M
- Nishikomori, Ryuta
- Sangiorgi, Eugenio
- Manna, Raffaele
- Brooks, Brian P
- Sobrin, Lucia
- Beck, David
- Aksentijevich, Ivona
- Kastner, Daniel L
- Azamian, Mahshid S.
- Bademci, Guney
- Balasubramanyam, Ashok
- Bamshad, Michael
- Bayrak-Toydemir, Pinar
- Beck, Anita
- Behrens, Edward
- Berg-Rood, Beverly
- Bonner, Devon
- Brokamp, Elly
- Brown, Gabrielle
- Carey, John
- Chang, TaChen Peter
- Chao, Hsiao-Tuan
- Coakley, Terra R.
- Coggins, Matthew
- Cooper, Cynthia M.
- Craigen, William J.
- Davis, Joie
- Dipple, Katrina
- Doss, Argenia L.
- Emrick, Lisa T.
- Falk, Marni
- Fernandez, Liliana
- Fieg, Elizabeth L.
- Fisher, Paul G.
- Glass, Ian
- Golden-Grant, Katie
- Grajewski, Alana
- Don Hadley, Sihoun Hahn
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- Holm, Ingrid A.
- Huang, Alden
- Jarvik, Gail P.
- Jarvik, Jeffrey
- Kennedy, Jennifer
- Kobren, Shilpa N.
- Lam, Byron
- Lanza, Ian R.
- LeBlanc, Kimberly
- Lewis, Richard A.
- Loo, Sandra K.
- MacRae, Calum A.
- Mak, Bryan C.
- McCauley, Jacob
- McGee, Elisabeth
- Mirzaa, Ghayda
- Nakano-Okuno, Mariko
- Orengo, James P.
- Carl Pallais, J.
- Pusey, Barbara N.
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- Rosenfeld, Jill A.
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- Schedl, Timothy
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- Shashi, Vandana
- Sisco, Kathy
- Ben Solomon, Rebecca C. Spillmann
- Sullivan, Jennifer A.
- Sun, Angela
- Tabor, Holly K.
- Tran, Alyssa A.
- Vanderver, Adeline
- Viskochil, Dave
- Wambach, Jennifer
- Wan, Jijun
- Ward, Patricia A.
- Weisz-Hubshman, Monika
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- Yang, John
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2022
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Orphanet journal of rare diseases, 2021-05, Vol.16 (1), p.206-206, Article 206
2021
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Genetics in medicine, 2021-04, Vol.23 (4), p.740-750
- Ruiter, Jos P.N.
- van Lint, Alida E.M.
- Pras-Raves, Mia
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- Guillen Sacoto, Maria J.
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- Sell, Susan L.
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- Martin, Nicole
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- Gahl, William A.
- Alejandro, Mercedes E.
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- Hanchard, Neil A.
- Lee, Brendan H.
- Moretti, Paolo M.
- Murdock, David R.
- Nicholas, Sarah K.
- Potocki, Lorraine
- Scott, Daryl A.
- Eng, Christine M.
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- Sullivan, Kathleen
- Tan, Queenie K.-G.
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- Berry, Gerard T.
- Cooper, Cynthia M.
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- Rodan, Lance H.
- Kelley, Emily G.
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- McCauley, Jacob
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- Adam, Margaret
- Amendola, Laura
- Cunningham, Michael
- Jarvik, Gail P.
- Jarvik, Jeffrey
- Lam, Christina
- Raskind, Wendy
- Sybert, Virginia
- Ashley, Euan A.
- Coakley, Terra R.
- Hom, Jason
- Majcherska, Marta M.
- Martin, Beth A.
- Marwaha, Shruti
- Ruzhnikov, Maura
- Tabor, Holly K.
- Tucker, Brianna M.
- Zastrow, Diane B.
- Byrd, William E.
- Dell’Angelica, Esteban C.
- Douine, Emilie D.
- Mak, Bryan C.
- Martin, Martin G.
- Martínez-Agosto, Julian A.
- McGee, Elisabeth
- Nelson, Stanley F.
- Parker, Neil H.
- Sinsheimer, Janet S.
- Wang, Lee-kai
- Perry, Katherine Wesseling
- Woods, Jeremy D.
- Pace, Laura
- Marth, Gabor
- Viskochil, Dave
- Bayrak-Toydemir, Pinar
- Duncan, Laura
- Robertson, Amy K.
- Solem, Emily
- Schedl, Timothy
- Shin, Jimann
- Solnica-Krezel, Lilianna
- Waisfisz, Quinten
- Zwijnenburg, Petra J.G.
- Wanders, Ronald J.A.
- Vaz, Frédéric M.
2021
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The Journal of experimental medicine, 2024-08, Vol.221 (8)
- Rael, Victoria E
- Yano, Julian A
- Huizar, John P
- Slayden, Leianna C
- Weiss, Madeleine A
- Turcotte, Elizabeth A
- Terry, Jacob M
- Zuo, Wenqi
- Thiffault, Isabelle
- Pastinen, Tomi
- Farrow, Emily G
- Jenkins, Janda L
- Becker, Mara L
- Wong, Stephen C
- Stevens, Anne M
- Otten, Catherine
- Allenspach, Eric J
- Bonner, Devon E
- Bernstein, Jonathan A
- Wheeler, Matthew T
- Saxton, Robert A
- Liu, Bo
- Majer, Olivia
- Barton, Gregory M
2024
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American journal of human genetics, 2019-08, Vol.105 (2), p.413-424
- Kanca, Oguz
- Andrews, Jonathan C.
- Patel, Chirag
- Slavotinek, Anne M.
- Williams, Judy
- Indaram, Maanasa
- Lau, C. Christopher
- Adams, David R.
- Agrawal, Pankaj
- Bademci, Guney
- Baker, Eva
- Baldridge, Dustin
- Bale, Jim
- Batzli, Gabriel F.
- Bayrak-Toydemir, Pinar
- Bernstein, Jonathan A.
- Bick, David P.
- Bohnsack, John
- Briere, Lauren C.
- Carey, John
- Cogan, Joy D.
- Cole, F. Sessions
- D'Souza, Precilla
- Dayal, Jyoti G.
- Dorset, Daniel C.
- Douine, Emilie D.
- Draper, David D.
- Duncan, Laura
- Fieg, Elizabeth L.
- Forghani, Irman
- Fresard, Laure
- Godfrey, Rena A.
- Goldman, Alica M.
- Groden, Catherine A.
- Haendel, Melissa
- Hayes, Nichole
- Huang, Alden
- Huang, Yong
- Jones, Angela L.
- Krasnewich, Donna M.
- Kyle, Jennifer E.
- Lalani, Seema R.
- Levy, Shawn E.
- Liu, Xue Zhong
- Loo, Sandra K.
- Loscalzo, Joseph
- Markello, Thomas C.
- Marth, Gabor
- McConkie-Rosell, Allyn
- Might, Matthew
- Morimoto, Marie
- Nelson, Stan F.
- Newberry, J. Scott
- Newman, John H.
- Orengo, James P.
- Pak, Stephen
- Pallais, J. Carl
- Palmer, Christina G.S.
- Papp, Jeanette C.
- Parker, Neil H.
- Pusey, Barbara N.
- Quinlan, Aaron
- Raja, Archana N.
- Rosenfeld, Jill A.
- Ruzhnikov, Maura
- Samson, Susan L.
- Schaechter, Judy
- Schedl, Timothy
- Schoch, Kelly
- Shakachite, Lisa
- Sharma, Prashant
- Shashi, Vandana
- Shields, Kathleen
- Sillari, Catherine H.
- Sinsheimer, Janet S.
- Smith, Kevin S.
- Solnica-Krezel, Lilianna
- Spillmann, Rebecca C.
- Stong, Nicholas
- Sweetser, David A.
- Tekin, Mustafa
- Telischi, Fred
- Tran, Alyssa A.
- Urv, Tiina K.
- Vogel, Tiphanie P.
- Wahl, Colleen E.
- Walley, Nicole M.
- Wang, Lee-kai
- Wangler, Michael F.
- Wegner, Daniel
- Wolfe, Lynne A.
- Worthey, Elizabeth A.
- Yu, Guoyun
- Zhao, Chunli
- Chung, Wendy K.
- Dobyns, William B.
- Gahl, William A.
- Malicdan, May Christine V.
2019
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American journal of human genetics, 2023-05, Vol.110 (5), p.774-789
- Tepe, Burak
- Cogne, Benjamin
- Neil, Jennifer E.
- Walsh, Christopher A.
- Magal, Nurit
- Drasinover, Valerie
- Schwab, Tanya
- Schmitz, Chris
- Clark, Karl
- Blanc, Pierre
- Bademci, Guney
- Balasubramanyam, Ashok
- Baldridge, Dustin
- Bayrak-Toydemir, Pinar
- Beck, Anita
- Behrens, Edward
- Bican, Anna
- Bivona, Stephanie
- Blue, Elizabeth
- Boyd, Brenna
- Briere, Lauren C.
- Brown, Gabrielle
- Byers, Peter
- Byrd, William E.
- Carey, John
- Clark, Gary D.
- Coakley, Terra R.
- Colley, Heather A.
- Craigen, William J.
- Cunningham, Michael
- Dasari, Surendra
- Dayal, Jyoti G.
- Deardorff, Matthew
- Dipple, Katrina
- Doherty, Daniel
- Doss, Argenia L.
- Emrick, Lisa T.
- Fernandez, Liliana
- Forghani, Irman
- Glass, Ian
- Gochuico, Bernadette
- Golden-Grant, Katie
- Goldrich, Madison P.
- Gutierrez, Irma
- Hamid, Rizwan
- Hayes, Nichole
- Hom, Jason
- Horike-Pyne, Martha
- Isasi, Rosario
- Jarvik, Jeffrey
- Jobanputra, Vaidehi
- Karaviti, Lefkothea
- Kiley, Dana
- Kobren, Shilpa N.
- Krasnewich, Donna M.
- LeBlanc, Kimberly
- Levitt, Roy
- Mahoney, Rachel
- Malicdan, May Christine V.
- Mamounas, Laura A.
- Mao, Rong
- Maravilla, Kenneth
- Marom, Ronit
- Martin, Martin G.
- Martínez-Agosto, Julian A.
- Merritt, J. Lawrence
- Morava, Eva
- Newman, John H.
- Nickerson, Deborah
- Novacic, Donna
- Oglesbee, Devin
- Pace, Laura
- Palmer, Christina GS
- Papp, Jeanette C.
- Rao, Deepak A.
- Renteria, Genecee
- Reuter, Chloe M.
- Robertson, Amy K.
- Rosenfeld, Jill A.
- Rossignol, Francis
- Ruzhnikov, Maura
- Scott, C. Ron
- Shin, Jimann
- Sinsheimer, Janet S.
- Sullivan, Jennifer A.
- Sun, Angela
- Tabor, Holly K.
- Telischi, Fred
- Toro, Camilo
- Tucker, Brianna M.
- Urv, Tiina K.
- Vogel, Tiphanie P.
- Walker, Melissa
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- Perry, Katherine Wesseling
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- Wolfe, Lynne A.
- Worley, Kim
- Xiao, Changrui
- Zuchner, Stephan
2023
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American journal of human genetics, 2023-08, Vol.110 (8), p.1414-1435
- Niggl, Eva
- Elgersma, Minetta
- Clayton-Smith, Jill
- Jain, Mahim
- Krantz, Ian
- Vetrini, Francesco
- Witt, Dennis
- Zhou, Dihong
- Arumugam, P.
- Boardman-Pretty, F.
- Brown, M.A.
- Chan, G.C.
- Henderson, S.
- Kayikci, M.
- Kousathanas, A.
- Lahnstein, L.
- Maleady-Crowe, F.
- McEntagart, M.
- Minneci, F.
- O‘Donovan, P.
- Pereira, M.B.
- Rahim, T.
- Savage, K.
- Sawant, K.
- Smith, S.C.
- Sosinsky, A.
- Tucci, A.
- Williams, E.
- Alvey, Justin
- Andrews, Ashley
- Baldridge, Dustin
- Bale, Jim
- Bamshad, Michael
- Bayrak-Toydemir, Pinar
- Bejerano, Gill
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- Burke, Elizabeth A.
- Chang, Ta Chen
- Chanprasert, Sirisak
- Chao, Hsiao-Tuan
- Clark, Gary D.
- Corona, Rosario
- Crouse, Andrew B.
- Dipple, Katrina
- Doss, Argenia L.
- Fisher, Paul G.
- Fu, Jiayu
- Gahl, William A.
- Hamid, Rizwan
- Hassey, Kelly
- Huang, Yan
- Introne, Wendy
- Izumi, Kosuke
- Jean-Marie, Orpa
- Kaitryn, Emerald
- Ketkar, Shamika
- Kiley, Dana
- Kilich, Gonench
- Kohane, Isaac S.
- Krakow, Deborah
- Lewis, Richard A.
- Loscalzo, Joseph
- Maghiro, AudreyStephannie
- Mahoney, Rachel
- Mao, Rong
- Marth, Gabor
- McCauley, Jacob
- McConkie-Rosell, Allyn
- McCray, Alexa T.
- McGee, Elisabeth
- Mirzaa, Ghayda
- Morava, Eva
- Morimoto, Marie
- Nelson, Stanley F.
- Novacic, Donna
- Posey, Jennifer E.
- Potocki, Lorraine
- Swerdzewski, Barbara N.
- Rao, Deepak A.
- Raskind, Wendy
- Renteria, Genecee
- Rives, Lynette
- Robertson, Amy K.
- Rodan, Lance H.
- Rosenfeld, Jill A.
- Rossignol, Francis
- Schaechter, Judy
- Shashi, Vandana
- Shin, Jimann
- Sinsheimer, Janet
- Solnica-Krezel, Lilianna
- Sullivan, Kathleen
- Tan, Amelia L.
- Tarakad, Arjun
- Telischi, Fred
- Urv, Tiina K.
- Wahl, Colleen E.
- Wan, Jijun
2023
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Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
- Kurata, Harley T.
- Jamra, Rami Abou
- Alkelai, Anna
- Antonarakis, Stylianos E.
- Bolkier, Yoav
- Dickson, Patricia
- Donald, Kirsten A.
- Eliyahu, Aviva
- Emrick, Lisa
- Odent, Sylvie
- Ortiz-Gonzalez, Xilma
- Rosenfeld, Jill A.
- Skraban, Cara
- Alejandro, Mercedes E.
- Azamian, Mahshid S.
- Chao, Hsiao-Tuan
- Dai, Hongzheng
- Dhar, Shweta U.
- Karaviti, Lefkothea
- Lee, Brendan H.
- Scott, Daryl A.
- Wangler, Michael F.
- Eng, Christine M.
- Sullivan, Kathleen
- Goldstein, David B.
- McConkie-Rosell, Allyn
- Schoch, Kelly
- Shashi, Vandana
- Beggs, Alan H.
- Cobban, Laurel A.
- Cooper, Cynthia M.
- Fieg, Elizabeth L.
- Korrick, Susan
- Loscalzo, Joseph
- Maas, Richard L.
- MacRae, Calum A.
- Stoler, Joan M.
- Nagy, Anna
- Dasari, Surendra
- Lanpher, Brendan C.
- Bivona, Stephanie
- Isasi, Rosario
- Levitt, Roy
- Tekin, Mustafa
- Thorson, Willa
- Eckstein, David J.
- Mamounas, Laura A.
- D’Souza, Precilla
- Ferreira, Carlos
- Godfrey, Rena A.
- Groden, Catherine A.
- Macnamara, Ellen F.
- Maduro, Valerie V.
- Nath, Avi
- Baker, Eva
- Power, Bradley
- Mosbrook-Davis, Deborah
- Rossignol, Francis
- Yousef, Muhammad
- Amendola, Laura
- Bamshad, Michael
- Beck, Anita
- Bennett, Jimmy
- Blue, Elizabeth
- Chanprasert, Sirisak
- Glass, Ian
- Jarvik, Gail P.
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Volltextzugriff (PDF)
American journal of human genetics, 2024-01, Vol.111 (1), p.96-118
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Volltextzugriff (PDF)
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