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Original Investigation
[x]
Gene Function
[x]
Female [MeSH]
[x]
Sacherschließung
Molecular Medicine
(8)
Metabolic Diseases
(8)
Humans [MeSH]
(8)
Human Genetics
(8)
Male [MeSH]
(6)
Phenotype [MeSH]
(2)
Pedigree [MeSH]
(2)
Publikationstyp
Artikel
(8)
Erscheinungsjahr
2021
(6)
2020
(2)
Institution
8 Treffer
Kurzansicht
E-Jahr
Zugriff
Typ
Operations
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy
2021 .
Parenti, Ilaria
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Lehalle, Daphné
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Nava, Caroline
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Torti, Erin
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Leitão, Elsa
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Person, Richard
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Mizuguchi, Takeshi
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Matsumoto, Naomichi
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Kato, Mitsuhiro
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Nakamura, Kazuyuki
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de Man, Stella
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Cope, Heidi
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Shashi, Vandana
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Friedman, Jennifer
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Joset, Pascal
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Steindl, Katharina
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Rauch, Anita
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Muffels, Irena
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van Hasselt, Peter M
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petit, florence
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Smol, Thomas
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Le Guyader, Gwenaël
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Bilan, Frédéric
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Sorlin, Arthur
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Vitobello, Antonio
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PHILIPPE, Christophe
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van de Laar, Ingrid
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van Slegtenhorst, Marjon A.
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Campeau, Philippe
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Au, Ping Yee
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Nakashima, Mitsuko
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Saitsu, Hirotomo
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Yamamoto, Tatsuya
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Nomura, Yumiko
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Louie, Raymond
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Lyons, Michael
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Dobson, Amy
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Plomp, Astrid S.
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Motazacker, M. Mahdi
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Kaiser, Frank J.
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Timberlake, Andrew
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Fuchs, Sabine
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Depienne, Christel
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Mignot, Cyril
2021
http://purl.org/ontology/bibo/Article
Whole-genome sequencing identifies functional noncoding variation in SEMA3C that cosegregates with dyslexia in a multigenerational family
2021 .
Carrion-Castillo, Amaia
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B. Estruch, Sara
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Maassen, Ben
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Franke, Barbara
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Francks, Clyde
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Fisher, Simon
2021
http://purl.org/ontology/bibo/Article
Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus
2021 .
Melo, Uirá Souto
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Piard, Juliette
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Fischer-Zirnsak, Björn
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Klever, Marius-Konstantin
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Schöpflin, Robert
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Mensah, Martin Atta
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Holtgrewe, Manuel
|
Arbez-Gindre, Francine
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Martin, Alain
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Guigue, Virginie
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Gaillard, Dominique
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Landais, Emilie
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Roze, Virginie
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Kremer, Valerie
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Ramanah, Rajeev
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Cabrol, Christelle
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Harms, Frederike L.
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Kornak, Uwe
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Spielmann, Malte
|
Mundlos, Stefan
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Van Maldergem, Lionel
2021
http://purl.org/ontology/bibo/Article
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans
2021 .
Vona, Barbara
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Mazaheri, Neda
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Lin, Sheng-Jia
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Dunbar, Lucy
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Maroofian, Reza
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Azaiez, Hela
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Booth, Kevin T.
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Vitry, Sandrine
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Rad, Abolfazl
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Rüschendorf, Franz
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Varshney, Pratishtha
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Fowler, Ben
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Beetz, Christian
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Alagramam, Kumar N.
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Murphy, David
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Shariati, Gholamreza
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Sedaghat, Alireza
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Houlden, Henry
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Petree, Cassidy
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VijayKumar, Shruthi
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Smith, Richard
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Haaf, Thomas
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EL-AMRAOUI, Aziz
|
Bowl, Michael
|
Varshney, Gaurav K.
|
Galehdari, Hamid
2021
http://purl.org/ontology/bibo/Article
The fetus in the age of the genome
2021 .
, Dagmar
|
Henn, Wolfram
2021
http://purl.org/ontology/bibo/Article
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males
2021 .
Kreienkamp, Hans-Jürgen
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Wagner, Matias
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Weigand, Heike
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McConkie-Rossell, Allyn
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McDonald, Marie
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Keren, Boris
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Mignot, Cyril
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Gauthier, Julie
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Soucy, Jean-François
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Michaud, Jacques L.
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Dumas, Meghan
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Smith, Rosemarie
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Löbel, Ulrike
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Hempel, Maja
|
Kubisch, Christian
|
Denecke, Jonas
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Campeau, Philippe M.
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Bain, Jennifer M.
|
Lessel, Davor
2021
http://purl.org/ontology/bibo/Article
Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies
2020 .
Lessel, Ivana
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Chen, Mei-Jan
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Lüttgen, Sabine
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Arndt, Florian
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Fuchs, Sigrid
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Meien, Stefanie
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Thiele, Holger
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Jones, Julie R.
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Shaw, Brandon R.
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Crossman, David K.
|
Nürnberg, Peter
|
Korf, Bruce R.
|
Kubisch, Christian
|
Lessel, Davor
2020
http://purl.org/ontology/bibo/Article
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis
2020 .
Ganapathi, Mythily
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Argyriou, Loukas
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Martínez-Azorín, Francisco
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Morlot, Susanne
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Yigit, Gökhan
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Lee, Teresa
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Auber, Bernd
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von Gise, Alexander
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Petrey, Donald S.
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Thiele, Holger
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Cyganek, Lukas
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Sabater-Molina, Maria
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Ahimaz, Priyanka
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Cabezas-Herrera, Juan
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Sorlí García , Moises
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Zibat, Arne
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Siegelin, Markus
|
Burfeind, Peter
|
Buchovecky, Christie M.
|
Hasenfuss, Gerd
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Honig, Barry
|
Li, Yun
|
Iglesias, Alejandro
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Wollnik, Bernd
2020
http://purl.org/ontology/bibo/Article