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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...Case reports in neurological medicine, 2016-01, Vol.2016 (2016), p.1-5
2016
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Human mutation, 2019-11, Vol.40 (11), p.2108-2120
- Shaheen, Ranad
- Mark, Paul
- Prevost, Christopher T.
- AlKindi, Adila
- Alhag, Ahmad
- Estwani, Fatima
- Al‐Sheddi, Tarfa
- Alobeid, Eman
- Alenazi, Mona M.
- Ewida, Nour
- Ibrahim, Niema
- Hashem, Mais
- Abdulwahab, Firdous
- Bryant, Emily M.
- Spinelli, Egidio
- Millichap, John
- Barnett, Sarah S.
- Kearney, Hutton M.
- Accogli, Andrea
- Scala, Marcello
- Capra, Valeria
- Nigro, Vincenzo
- Fu, Dragony
- Alkuraya, Fowzan S.
2019
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The Journal of molecular diagnostics : JMD, 2023-07, Vol.25 (7), p.524-531
- Shen, Wei
- Sellers, Heidi L.
- Choate, Lauren A.
- Stein, Mariam I.
- Tandale, Pratyush P.
- Tan, Jiayu
- Setlem, Rohit
- Sakai, Yuta
- Fadra, Numrah
- Sosa, Carlos
- McClelland, Shawn P.
- Barnett, Sarah S.
- Rasmussen, Kristen J.
- Runke, Cassandra K.
- Smoley, Stephanie A.
- Tillmans, Lori S.
- Marcou, Cherisse A.
- Rowsey, Ross A.
- Thorland, Erik C.
- Boczek, Nicole J.
- Kearney, Hutton M.
2023
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Pediatrics (Evanston), 2018-12, Vol.142 (6)
2018
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Frontiers in cell and developmental biology, 2022-02, Vol.10, p.783762-783762
- Rajan, Deepa S
- Kour, Sukhleen
- Fortuna, Tyler R
- Cousin, Margot A
- Barnett, Sarah S
- Niu, Zhiyv
- Babovic-Vuksanovic, Dusica
- Klee, Eric W
- Kirmse, Brian
- Innes, Micheil
- Rydning, Siri Lynne
- Selmer, Kaja K
- Vigeland, Magnus Dehli
- Erichsen, Anne Kjersti
- Nemeth, Andrea H
- Millan, Francisca
- DeVile, Catherine
- Fawcett, Katherine
- Legendre, Adrien
- Sims, David
- Schnekenberg, Ricardo Parolin
- Burglen, Lydie
- Mercier, Sandra
- Bakhtiari, Somayeh
- Francisco-Velilla, Rosario
- Embarc-Buh, Azman
- Martinez-Salas, Encarnacion
- Wigby, Kristen
- Lenberg, Jerica
- Friedman, Jennifer R
- Kruer, Michael C
- Pandey, Udai Bhan
2022
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American journal of medical genetics. Part A, 2014-10, Vol.164A (10), p.2557-2566
- Wenger, Tara L.
- Harr, Margaret
- Ricciardi, Stefania
- Bhoj, Elizabeth
- Santani, Avni
- Adam, Margaret P.
- Barnett, Sarah S.
- Ganetzky, Rebecca
- McDonald-McGinn, Donna M.
- Battaglia, Domenica
- Bigoni, Stefania
- Selicorni, Angelo
- Sorge, Giovanni
- Monica, Matteo Della
- Mari, Francesca
- Andreucci, Elena
- Romano, Silvia
- Cocchi, Guido
- Savasta, Salvatore
- Malbora, Baris
- Marangi, Giuseppe
- Garavelli, Livia
- Zollino, Marcella
- Zackai, Elaine H.
2014
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Cold Spring Harbor molecular case studies, 2017-05, Vol.3 (3), p.a001743-a001743
2017
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American journal of medical genetics. Part A, 2015-07, Vol.167A (7), p.1682-1683
- Wenger, Tara L.
- Harr, Margaret
- Ricciardi, Stefania
- Bhoj, Elizabeth
- Santani, Avni
- Adam, Margaret P.
- Barnett, Sarah S.
- Ganetzky, Rebecca
- McDonald-McGinn, Donna M.
- Battaglia, Domenica
- Bigoni, Stefania
- Selicorni, Angelo
- Sorge, Giovanni
- Monica, Matteo Della
- Mari, Francesca
- Andreucci, Elena
- Romano, Silvia
- Cocchi, Guido
- Savasta, Salvatore
- Malbora, Baris
- Marangi, Giuseppe
- Garavelli, Livia
- Zollino, Marcella
- Zackai, Elaine H.
2015
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Biological psychiatry (1969), 2020-01, Vol.87 (2), p.100-112
- Johnson, Brett V.
- Alexander, Suzy
- Vega, Michelle Sanchez
- Domingo, Deepti
- Oh, Tracey
- Lines, Matthew
- Grønborg, Sabine
- Mercier, Sandra
- Küry, Sébastien
- Billette de Villemeur, Thierry
- Koolen, David A.
- Sa, Joaquim
- Santiago-Fernández, Olaya
- Fernández-Jaén, Alberto
- Goldstein, Amy
- Madan-Khetarpal, Suneeta
- Sullivan, Jennifer A.
- Bacino, Carlos A.
- Baker, Eva
- Bellen, Hugo J.
- Bernstein, Jonathan A.
- Bick, David P.
- Butte, Manish J.
- Davids, Mariska
- Davidson, Jean M.
- Dayal, Jyoti G.
- Dhar, Shweta U.
- Douine, Emilie D.
- Draper, David D.
- Emrick, Lisa T.
- Esteves, Cecilia
- Estwick, Tyra
- Fernandez, Liliana
- Ferreira, Carlos
- Forghani, Irman
- Friedman, Noah D.
- Gahl, William A.
- Godfrey, Rena A.
- Hanchard, Neil A.
- Jiang, Yong-hui
- Karaviti, Lefkothea
- Korrick, Susan
- Koziura, Mary
- Krier, Joel B.
- Lanpher, Brendan C.
- LeBlanc, Kimberly
- Lee, Brendan H.
- Liu, Xue Zhong
- Marwaha, Shruti
- McCauley, Jacob
- Morimoto, Marie
- Nath, Avi
- Nelson, Stan F.
- Newman, John H.
- Oglesbee, Devin
- Orengo, James P.
- Pak, Stephen
- Parker, Neil H.
- Phillips, John A.
- Reuter, Chloe M.
- Rives, Lynette
- Robertson, Amy K.
- Rodan, Lance H.
- Sampson, Jacinda B.
- Schedl, Timothy
- Shakachite, Lisa
- Sharma, Prashant
- Signer, Rebecca
- Silverman, Edwin K.
- Sinsheimer, Janet S.
- Tekin, Mustafa
- Thorson, Willa
- Tran, Alyssa A.
- Vogel, Tiphanie P.
- Wahl, Colleen E.
- Walsh, Chris A.
- Wang, Lee-kai
- Wangler, Michael F.
- Worthey, Elizabeth A.
- Yu, Guoyun
- Zastrow, Diane B.
- Zhao, Chunli
- Gahl, William
- Barnett, Sarah S.
- Perry, M. Scott
- Schuette, Jane L.
- Smith, Laurie D.
- Rosenfeld, Jill A.
- Bhoj, Elizabeth
- Kaplan, Paige
- Oegema, Renske
- Armstrong, Martin
- Lin, Angela E.
- Hollander, Nicolette den
- Hoffer, Mariëtte J.V.
- Mosher, Theresa Mihalic
- Tezcan, Kamer
- Penzes, Peter
- Piper, Michael
2020
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Genetics in medicine, 2021-03, Vol.23 (3), p.498-507
- Klee, Eric W
- Cousin, Margot A
- Pinto E Vairo, Filippo
- Morales-Rosado, Joel A
- Macke, Erica L
- Jenkinson, W Garrett
- Ferrer, Alejandro
- Schultz-Rogers, Laura E
- Olson, Rory J
- Oliver, Gavin R
- Sigafoos, Ashley N
- Schwab, Tanya L
- Zimmermann, Michael T
- Urrutia, Raul A
- Kaiwar, Charu
- Gupta, Aditi
- Blackburn, Patrick R
- Boczek, Nicole J
- Prochnow, Carri A
- Lowy, Rebecca J
- Mulvihill, Lindsay A
- McAllister, Tammy M
- Aoudia, Stacy L
- Kruisselbrink, Teresa M
- Gunderson, Lauren B
- Kemppainen, Jennifer L
- Fisher, Laura J
- Tarnowski, Jessica M
- Hager, Megan M
- Kroc, Sarah A
- Bertsch, Nicole L
- Agre, Katherine E
- Jackson, Jessica L
- Macklin-Mantia, Sarah K
- Murphree, Marine I
- Rust, Laura M
- Summer Bolster, Jolene M
- Beck, Scott A
- Atwal, Paldeep S
- Ellingson, Marissa S
- Barnett, Sarah S
- Rasmussen, Kristen J
- Lahner, Carrie A
- Niu, Zhiyv
- Hasadsri, Linda
- Ferber, Matthew J
- Marcou, Cherisse A
- Clark, Karl J
- Pichurin, Pavel N
- Deyle, David R
- Morava-Kozicz, Eva
- Gavrilova, Ralitza H
- Dhamija, Radhika
- Wierenga, Klaas J
- Lanpher, Brendan C
- Babovic-Vuksanovic, Dusica
- Farrugia, Gianrico
- Schimmenti, Lisa A
- Stewart, A Keith
- Lazaridis, Konstantinos N
2021
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Nature communications, 2021-05, Vol.12 (1), p.2558-2558, Article 2558
- Kour, Sukhleen
- Rajan, Deepa S
- Fortuna, Tyler R
- Anderson, Eric N
- Ward, Caroline
- Lee, Youngha
- Lee, Sangmoon
- Shin, Yong Beom
- Chae, Jong-Hee
- Choi, Murim
- Siquier, Karine
- Cantagrel, Vincent
- Amiel, Jeanne
- Stolerman, Elliot S
- Barnett, Sarah S
- Cousin, Margot A
- Castro, Diana
- McDonald, Kimberly
- Kirmse, Brian
- Nemeth, Andrea H
- Rajasundaram, Dhivyaa
- Innes, A Micheil
- Lynch, Danielle
- Frosk, Patrick
- Collins, Abigail
- Gibbons, Melissa
- Yang, Michele
- Desguerre, Isabelle
- Boddaert, Nathalie
- Gitiaux, Cyril
- Rydning, Siri Lynne
- Selmer, Kaja K
- Urreizti, Roser
- Garcia-Oguiza, Alberto
- Osorio, Andrés Nascimento
- Verdura, Edgard
- Pujol, Aurora
- McCurry, Hannah R
- Landers, John E
- Agnihotri, Sameer
- Andriescu, E Corina
- Moody, Shade B
- Phornphutkul, Chanika
- Sacoto, Maria J Guillen
- Begtrup, Amber
- Houlden, Henry
- Kirschner, Janbernd
- Schorling, David
- Rudnik-Schöneborn, Sabine
- Strom, Tim M
- Leiz, Steffen
- Juliette, Kali
- Richardson, Randal
- Yang, Ying
- Zhang, Yuehua
- Wang, Minghui
- Wang, Jia
- Wang, Xiaodong
- Platzer, Konrad
- Donkervoort, Sandra
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- Wagner, Matias
- Issa, Mahmoud Y
- Elbendary, Hasnaa M
- Stanley, Valentina
- Maroofian, Reza
- Gleeson, Joseph G
- Zaki, Maha S
- Senderek, Jan
- Pandey, Udai Bhan
2021
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Genetics in medicine, 2023-02, Vol.25 (2), p.100359-100359, Article 100359
- Klee, Eric W.
- Cousin, Margot A.
- Pinto e Vairo, Filippo
- Morales-Rosado, Joel A.
- Macke, Erica L.
- Jenkinson, W. Garrett
- Ferrer, Alejandro
- Schultz-Rogers, Laura E.
- Olson, Rory J.
- Oliver, Gavin R.
- Sigafoos, Ashley N.
- Schwab, Tanya L.
- Zimmermann, Michael T.
- Urrutia, Raul A.
- Kaiwar, Charu
- Gupta, Aditi
- Blackburn, Patrick R.
- Boczek, Nicole J.
- Prochnow, Carri A.
- Lowy, Rebecca J.
- Mulvihill, Lindsay A.
- McAllister, Tammy M.
- Aoudia, Stacy L.
- Kruisselbrink, Teresa M.
- Gunderson, Lauren B.
- Kemppainen, Jennifer L.
- Fisher, Laura J.
- Tarnowski, Jessica M.
- Hager, Megan M.
- Kroc, Sarah A.
- Bertsch, Nicole L.
- Agre, Katherine E.
- Jackson, Jessica L.
- Macklin-Mantia, Sarah K.
- Murphree, Marine I.
- Rust, Laura M.
- Summer Bolster, Jolene M.
- Beck, Scott A.
- Atwal, Paldeep S.
- Ellingson, Marissa S.
- Barnett, Sarah S.
- Rasmussen, Kristen J.
- Lahner, Carrie A.
- Niu, Zhiyv
- Hasadsri, Linda
- Ferber, Matthew J.
- Marcou, Cherisse A.
- Clark, Karl J.
- Pichurin, Pavel N.
- Deyle, David R.
- Morava-Kozicz, Eva
- Gavrilova, Ralitza H.
- Dhamija, Radhika
- Wierenga, Klaas J.
- Lanpher, Brendan C.
- Babovic-Vuksanovic, Dusica
- Farrugia, Gianrico
- Schimmenti, Lisa A.
- Stewart, A. Keith
- Lazaridis, Konstantinos N.
2023
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Biological psychiatry (1969), 2019-06, Vol.87 (2), p.100-112
- Johnson, Brett V.
- Kumar, Raman
- Oishi, Sabrina
- Alexander, Suzy
- Kasherman, Maria
- Vega, Michelle Sanchez
- Ivancevic, Atma
- Gardner, Alison
- Domingo, Deepti
- Corbett, Mark
- Parnell, Euan
- Yoon, Sehyoun
- Oh, Tracey
- Lines, Matthew
- Lefroy, Henrietta
- Kini, Usha
- Van Allen, Margot
- Grønborg, Sabine
- Mercier, Sandra
- Küry, Sébastien
- Bézieau, Stéphane
- Pasquier, Laurent
- Raynaud, Martine
- Afenjar, Alexandra
- de Villemeur, Thierry Billette
- Keren, Boris
- Désir, Julie
- Van Maldergem, Lionel
- Marangoni, Martina
- Dikow, Nicola
- Koolen, David A.
- VanHasselt, Peter M.
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- Sa, Joaquim
- Reis, Claudia Falcao
- López-Otín, Carlos
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- Goldstein, Amy
- Madan-Khetarpal, Suneeta
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- Keegan, Catherine E.
- Schuette, Jane L.
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- Perilla-Young, Yezmin
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- Kaplan, Paige
- Li, Dong
- Oegema, Renske
- van Binsbergen, Ellen
- van der Zwaag, Bert
- Smeland, Marie Falkenberg
- Cutcutache, Ioana
- Page, Matthew
- Armstrong, Martin
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- Koboldt, Daniel C.
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- Mosher, Theresa Mihalic
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- Shieh, Christine
- Sanchez-Lara, Pedro A.
- Graham, John M.
- Tezcan, Kamer
- Schaefer, G. B.
- Danylchuk, Noelle R.
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- Au, Margaret
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2019
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BioMed research international, 2014-01, Vol.2014 (2014), p.1-9
2014
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Lancet neurology, 2015-12, Vol.14 (12), p.1182-1195
- Mirzaa, Ghayda M, Dr
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- Martin, Beth, BS
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2015
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Case reports in neurological medicine, 2016, Vol.2016, p.7627289-7627289
2016
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PLoS medicine, 2019-11, Vol.16 (11), p.e1002969
2019
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The New England journal of medicine, 2018-07, Vol.379 (1), p.1-4
2018
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Journal of allergy and clinical immunology, 2011-01, Vol.127 (1), p.145-152
2011
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Sports medicine (Auckland), 2016-11, Vol.46 (11), p.1663-1688
2016
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Neuron (Cambridge, Mass.), 2017-09, Vol.95 (6), p.1381-1394.e6
2017
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Journal of the American Chemical Society, 2018-02, Vol.140 (6), p.2028-2031
2018
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Annals of internal medicine, 2019-07, Vol.171 (1), p.1
2019
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JAMA : the journal of the American Medical Association, 2022-01, Vol.327 (4), p.331
- Oster, Matthew E
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- Dendy, Jeffrey M
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2022
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BMC neuroscience, 2024-03, Vol.25 (1), p.11-11, Article 11
2024
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