Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
1756-994X
- Extent
-
Online-Ressource
- Language
-
Englisch
- Notes
-
online resource.
- Bibliographic citation
-
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders ; volume:13 ; number:1 ; day:19 ; month:4 ; year:2021 ; pages:1-26 ; date:12.2021
Genome medicine ; 13, Heft 1 (19.4.2021), 1-26, 12.2021
- Creator
-
Gillentine, Madelyn A.
Wang, Tianyun
Hoekzema, Kendra
Rosenfeld, Jill
Liu, Pengfei
Guo, Hui
Kim, Chang N.
Vries, Bert B. A. De
Vissers, Lisenka E. L. M.
Nordenskjold, Magnus
Kvarnung, Malin
Lindstrand, Anna
Nordgren, Ann
Gecz, Jozef
Iascone, Maria
Cereda, Anna
Scatigno, Agnese
Maitz, Silvia
Zanni, Ginevra
Bertini, Enrico
Zweier, Christiane
Schuhmann, Sarah
Wiesener, Antje
Pepper, Micah
Panjwani, Heena
Torti, Erin
Abid, Farida
Anselm, Irina
Srivastava, Siddharth
Atwal, Paldeep
Bacino, Carlos A.
Bhat, Gifty
Cobian, Katherine
Bird, Lynne M.
Friedman, Jennifer
Wright, Meredith S.
Callewaert, Bert
Petit, Florence
Mathieu, Sophie
Afenjar, Alexandra
Christensen, Celenie K.
White, Kerry M.
Elpeleg, Orly
Berger, Itai
Espineli, Edward J.
Fagerberg, Christina
Brasch-Andersen, Charlotte
Hansen, Lars Kjærsgaard
Feyma, Timothy
Hughes, Susan
Thiffault, Isabelle
Sullivan, Bonnie
Yan, Shuang
Keller, Kory
Keren, Boris
Mignot, Cyril
Kooy, Frank
Meuwissen, Marije
Basinger, Alice
Kukolich, Mary
Philips, Meredith
Ortega, Lucia
Drummond-Borg, Margaret
Lauridsen, Mathilde
Sorensen, Kristina
Lehman, Anna
Lopez-Rangel, Elena
Levy, Paul
Lessel, Davor
Lotze, Timothy
Madan-Khetarpal, Suneeta
Sebastian, Jessica
Vento, Jodie
Vats, Divya
Benman, L. Manace
Mckee, Shane
Mirzaa, Ghayda M.
Muss, Candace
Pappas, John
Peeters, Hilde
Romano, Corrado
Elia, Maurizio
Galesi, Ornella
Simon, Marleen E. H.
Gassen, Koen L. I. van
Simpson, Kara
Stratton, Robert
Syed, Sabeen
Thevenon, Julien
Palafoll, Irene Valenzuela
Vitobello, Antonio
Bournez, Marie
Faivre, Laurence
Xia, Kun
Earl, Rachel K.
Nowakowski, Tomasz
Bernier, Raphael A.
Eichler, Evan E.
- Contributor
-
SpringerLink (Online service)
- DOI
-
10.1186/s13073-021-00870-6
- URN
-
urn:nbn:de:101:1-2021092520142915170388
- Rights
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
15.08.2025, 7:37 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Gillentine, Madelyn A.
- Wang, Tianyun
- Hoekzema, Kendra
- Rosenfeld, Jill
- Liu, Pengfei
- Guo, Hui
- Kim, Chang N.
- Vries, Bert B. A. De
- Vissers, Lisenka E. L. M.
- Nordenskjold, Magnus
- Kvarnung, Malin
- Lindstrand, Anna
- Nordgren, Ann
- Gecz, Jozef
- Iascone, Maria
- Cereda, Anna
- Scatigno, Agnese
- Maitz, Silvia
- Zanni, Ginevra
- Bertini, Enrico
- Zweier, Christiane
- Schuhmann, Sarah
- Wiesener, Antje
- Pepper, Micah
- Panjwani, Heena
- Torti, Erin
- Abid, Farida
- Anselm, Irina
- Srivastava, Siddharth
- Atwal, Paldeep
- Bacino, Carlos A.
- Bhat, Gifty
- Cobian, Katherine
- Bird, Lynne M.
- Friedman, Jennifer
- Wright, Meredith S.
- Callewaert, Bert
- Petit, Florence
- Mathieu, Sophie
- Afenjar, Alexandra
- Christensen, Celenie K.
- White, Kerry M.
- Elpeleg, Orly
- Berger, Itai
- Espineli, Edward J.
- Fagerberg, Christina
- Brasch-Andersen, Charlotte
- Hansen, Lars Kjærsgaard
- Feyma, Timothy
- Hughes, Susan
- Thiffault, Isabelle
- Sullivan, Bonnie
- Yan, Shuang
- Keller, Kory
- Keren, Boris
- Mignot, Cyril
- Kooy, Frank
- Meuwissen, Marije
- Basinger, Alice
- Kukolich, Mary
- Philips, Meredith
- Ortega, Lucia
- Drummond-Borg, Margaret
- Lauridsen, Mathilde
- Sorensen, Kristina
- Lehman, Anna
- Lopez-Rangel, Elena
- Levy, Paul
- Lessel, Davor
- Lotze, Timothy
- Madan-Khetarpal, Suneeta
- Sebastian, Jessica
- Vento, Jodie
- Vats, Divya
- Benman, L. Manace
- Mckee, Shane
- Mirzaa, Ghayda M.
- Muss, Candace
- Pappas, John
- Peeters, Hilde
- Romano, Corrado
- Elia, Maurizio
- Galesi, Ornella
- Simon, Marleen E. H.
- Gassen, Koen L. I. van
- Simpson, Kara
- Stratton, Robert
- Syed, Sabeen
- Thevenon, Julien
- Palafoll, Irene Valenzuela
- Vitobello, Antonio
- Bournez, Marie
- Faivre, Laurence
- Xia, Kun
- Earl, Rachel K.
- Nowakowski, Tomasz
- Bernier, Raphael A.
- Eichler, Evan E.
- SpringerLink (Online service)
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De novo truncating variants of TRIM8 and atypical neuro-renal syndrome: a case report and literature review
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Liquid–liquid phase separation in particles containing secondary organic material free of inorganic salts
Infinitely Many Solutions for the Nonlinear Schrödinger–Poisson System with Broken Symmetry
On Nodal Solutions of the Nonlinear Choquard Equation
Fractionation of stable carbon isotopes during acetate consumption by methanogenic and sulfidogenic microbial communities in rice paddy soils and lake sediments
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Stacked multi-electrode design of microbial electrolysis cells for rapid and low-sludge treatment of municipal wastewater
De novo truncating variants of TRIM8 and atypical neuro-renal syndrome: a case report and literature review
Multiple nodal solutions of the Kirchhoff-type problem with a cubic term
Nodal solutions with a prescribed number of nodes for the Kirchhoff-type problem with an asymptotically cubic term
Estimating private provision of public goods with heterogenous participants: A structural analysis
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