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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...Current opinion in pediatrics, 2018-12, Vol.30 (6), p.701-706
2018
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American journal of medical genetics. Part A, 2024-02, Vol.194 (2), p.131-140
2024
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European journal of human genetics : EJHG, 2022-12, Vol.30 (12), p.1423-1431
2022
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PLoS genetics, 2018-11, Vol.14 (11), p.e1007671-e1007671
- Hiatt, Susan M
- Neu, Matthew B
- Ramaker, Ryne C
- Hardigan, Andrew A
- Prokop, Jeremy W
- Hancarova, Miroslava
- Prchalova, Darina
- Havlovicova, Marketa
- Prchal, Jan
- Stranecky, Viktor
- Yim, Dwight K C
- Powis, Zöe
- Keren, Boris
- Nava, Caroline
- Mignot, Cyril
- Rio, Marlene
- Revah-Politi, Anya
- Hemati, Parisa
- Stong, Nicholas
- Iglesias, Alejandro D
- Suchy, Sharon F
- Willaert, Rebecca
- Wentzensen, Ingrid M
- Wheeler, Patricia G
- Brick, Lauren
- Kozenko, Mariya
- Hurst, Anna C E
- Wheless, James W
- Lacassie, Yves
- Myers, Richard M
- Barsh, Gregory S
- Sedlacek, Zdenek
- Cooper, Gregory M
- Copenhaver, Gregory P.
2018
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Human molecular genetics, 2019-09, Vol.28 (17), p.2937-2951
- Liang, Lina
- Li, Xia
- Moutton, Sébastien
- Schrier Vergano, Samantha A
- Cogné, Benjamin
- Saint-Martin, Anne
- Hurst, Anna C E
- Hu, Yushuang
- Bodamer, Olaf
- Thevenon, Julien
- Hung, Christina Y
- Isidor, Bertrand
- Gerard, Bénédicte
- Rega, Adelaide
- Nambot, Sophie
- Lehalle, Daphné
- Duffourd, Yannis
- Thauvin-Robinet, Christel
- Faivre, Laurence
- Bézieau, Stéphane
- Dure, Leon S
- Helbling, Daniel C
- Bick, David
- Xu, Chengqi
- Chen, Qiuyun
- Mancini, Grazia M S
- Vitobello, Antonio
- Wang, Qing Kenneth
2019
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Human genetics, 2024-03, Vol.143 (3), p.455-469
- Herbst, Charlotte
- Bothe, Viktoria
- Wegler, Meret
- Axer-Schaefer, Susanne
- Audebert-Bellanger, Séverine
- Gecz, Jozef
- Cogne, Benjamin
- Feldman, Hagit Baris
- Horn, Anselm H. C.
- Hurst, Anna C. E.
- Kelly, Melissa A.
- Kruer, Michael C.
- Kurolap, Alina
- Laquerriere, Annie
- Li, Megan
- Mark, Paul R.
- Morawski, Markus
- Nizon, Mathilde
- Pastinen, Tomi
- Polster, Tilman
- Saugier-Veber, Pascale
- SeSong, Jang
- Sticht, Heinrich
- Stieler, Jens T.
- Thifffault, Isabelle
- van Eyk, Clare L.
- Marcorelles, Pascale
- Vezain-Mouchard, Myriam
- Abou Jamra, Rami
- Oppermann, Henry
2024
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Clinical chemistry (Baltimore, Md.), 2020-01, Vol.66 (1), p.261-262
2020
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Hormone research in paediatrics, 2023, Vol.96 (4), p.439-445
2023
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Brain (London, England : 1878), 2022-12, Vol.145 (12), p.4232-4245
- Banka, Siddharth
- Bennington, Abigail
- Baker, Martin J
- Rijckmans, Ellen
- Clemente, Giuliana D
- Ansor, Nurhuda Mohamad
- Sito, Hilary
- Prasad, Pritha
- Anyane-Yeboa, Kwame
- Badalato, Lauren
- Dimitrov, Boyan
- Fitzpatrick, David
- Hurst, Anna C E
- Jansen, Anna C
- Kelly, Melissa A
- Krantz, Ian
- Rieubland, Claudine
- Ross, Meredith
- Rudy, Natasha L
- Sanz, Javier
- Stouffs, Katrien
- Xu, Zhuo Luan
- Malliri, Angeliki
- Kazanietz, Marcelo G
- Millard, Tom H
2022
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Genetics in medicine, 2023-08, Vol.25 (8), p.100884-100884, Article 100884
- Felker, Stephanie A.
- Lawlor, James M.J.
- Hiatt, Susan M.
- Thompson, Michelle L.
- Latner, Donald R.
- Finnila, Candice R.
- Bowling, Kevin M.
- Bonnstetter, Zachary T.
- Bonini, Katherine E.
- Kelly, Nicole R.
- Kelley, Whitley V.
- Hurst, Anna C.E.
- Rashid, Salman
- Kelly, Melissa A.
- Nakouzi, Ghunwa
- Hendon, Laura G.
- Bebin, E. Martina
- Kenny, Eimear E.
- Cooper, Gregory M.
2023
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American journal of medical genetics. Part C, Seminars in medical genetics, 2024-08, p.e32108
2024
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Genome medicine, 2022-11, Vol.14 (1), p.131-17, Article 131
2022
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Genetics in medicine, 2021-02, Vol.23 (2), p.280-288
2021
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American journal of medical genetics. Part A, 2023-03, Vol.191 (3), p.659-671
2023
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Genetics in medicine, 2024-01, Vol.26 (1), p.101010, Article 101010
2024
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American journal of medical genetics. Part C, Seminars in medical genetics, 2023-12, p.e32079-e32079
2023
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De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay
- Ha, Thoa
- Morgan, Angela
- Bartos, Meghan N.
- Beatty, Katelyn
- Cogné, Benjamin
- Braun, Dominique
- Gerber, Céline B.
- Gaspar, Harald
- Kopps, Anna M.
- Rieubland, Claudine
- Hurst, Anna C. E.
- Amor, David J.
- Nizon, Mathilde
- Pasquier, Laurent
- Pfundt, Rolph
- Reis, André
- Siu, Victoria Mok
- Tessarech, Marine
- Thompson, Michelle L.
- Vincent, Marie
- Vries, Bert B. A.
- Walsh, Matthew B.
- Wechsler, Stephanie Burns
- Zweier, Christiane
- Schnur, Rhonda E.
- Guillen Sacoto, Maria J.
- Margot, Henri
- Masotto, Barbara
- Palafoll, Maria Irene Valenzuela
- Nawaz, Urwah
- Voineagu, Irina
- Slavotinek, Anne
2024
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American journal of medical genetics. Part A, 2017-04, Vol.173 (4), p.1087-1089
2017
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Journal of clinical lipidology, 2017-05, Vol.11 (3), p.757-762
2017
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Journal of allergy and clinical immunology, 2020-01, Vol.145 (1), p.358-367.e2
2020
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Genetics in medicine, 2021-04, Vol.23 (4), p.777-781
- East, Kelly M.
- Kelley, Whitley V.
- Cannon, Ashley
- Cochran, Meagan E.
- Moss, Irene P.
- May, Thomas
- Nakano-Okuno, Mariko
- Sodeke, Stephen O.
- Edberg, Jeffrey C.
- Cimino, James J.
- Fouad, Mona
- Curry, William A.
- Hurst, Anna C.E.
- Bowling, Kevin M.
- Thompson, Michelle L.
- Bebin, E. Martina
- Johnson, Robert D.
- Acemgil, Aras
- Crossman, David K.
- Finnila, Candice R.
- Gray, David E.
- Greve, Veronica
- Hardy, Sharonda
- Hiatt, Susan M.
- Latner, Donald R.
- Lawlor, James M.J.
- Miskell, Edrika L.
- Narmore, Whitney
- Schach, Julie H.
- Cooper, Gregory M.
- Might, Matthew
- Barsh, Gregory S.
- Korf, Bruce R.
2021
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Neurology, 2021-03, Vol.96 (13), p.e1783
2021
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PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families
- Guimier, Anne
- Achleitner, Melanie T
- Moreau de Bellaing, Anne
- Edwards, Matthew
- de Pontual, Loïc
- Mittal, Kirti
- Dunn, Kyla E
- Grove, Megan E
- Tysoe, Carolyn J
- Dimartino, Clémantine
- Cameron, Jessie
- Kanthi, Anil
- Shukla, Anju
- van den Broek, Florence
- Chatterjee, Diptendu
- Alston, Charlotte L
- Knowles, Charlotte V
- Brett, Laura
- Till, Jan A
- Homfray, Tessa
- French, Paul
- Spentzou, Georgia
- Elserafy, Noha A
- Lichkus, Kate S
- Sankaran, Bindu P
- Kennedy, Hannah L
- George, Peter M
- Kidd, Alexa
- Wortmann, Saskia B
- Fisk, Dianna G
- Koopmann, Tamara T
- Rafiq, Muhammad A
- Merker, Jason D
- Parikh, Sumith
- Ahimaz, Priyanka
- Weintraub, Robert G
- Ma, Alan S
- Turner, Christian
- Ellaway, Carolyn J
- Phillips, Liza K
- Thorburn, David R
- Chung, Wendy K
- Kana, Sajel L
- Faye-Petersen, Ona M
- Thompson, Michelle L
- Janin, Alexandre
- McLeod, Karen
- McGowan, Ruth
- McFarland, Robert
- Girisha, Katta M
- Morris-Rosendahl, Deborah J
- Hurst, Anna C E
- Turner, Claire L S
- Hamilton, Robert M
- Taylor, Robert W
- Bajolle, Fanny
- Gordon, Christopher T
- Amiel, Jeanne
- Mayr, Johannes A
- Doudney, Kit
2021
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European journal of human genetics : EJHG, 2021-02, Vol.29 (2), p.271-279
- Ghosh, Shereen G
- Scala, Marcello
- Beetz, Christian
- Helman, Guy
- Stanley, Valentina
- Yang, Xiaoxu
- Breuss, Martin W
- Mazaheri, Neda
- Selim, Laila
- Hadipour, Fatemeh
- Pais, Lynn
- Stutterd, Chloe A
- Karageorgou, Vasiliki
- Begtrup, Amber
- Crunk, Amy
- Juusola, Jane
- Willaert, Rebecca
- Flore, Leigh A
- Kennelly, Kelly
- Spencer, Christopher
- Brown, Martha
- Trapane, Pamela
- Hurst, Anna C E
- Lane Rutledge, S
- Goodloe, Dana H
- McDonald, Marie T
- Shashi, Vandana
- Schoch, Kelly
- Tomoum, Hoda
- Zaitoun, Raghda
- Hadipour, Zahra
- Galehdari, Hamid
- Pagnamenta, Alistair T
- Mojarrad, Majid
- Sedaghat, Alireza
- Dias, Patrícia
- Quintas, Sofia
- Eslahi, Atiyeh
- Shariati, Gholamreza
- Bauer, Peter
- Simons, Cas
- Houlden, Henry
- Issa, Mahmoud Y
- Zaki, Maha S
- Maroofian, Reza
- Gleeson, Joseph G
2021
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Frontiers in endocrinology (Lausanne), 2022-10, Vol.13
2022
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