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Artikel
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Phenotype [MeSH]
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Sacherschließung
Original Investigation
(5)
Molecular Medicine
(5)
Metabolic Diseases
(5)
Humans [MeSH]
(5)
Human Genetics
(5)
Gene Function
(5)
Male [MeSH]
(4)
Pedigree [MeSH]
(2)
Mutation [MeSH]
(2)
Publikationstyp
Erscheinungsjahr
2021
(3)
2020
(2)
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5 Treffer
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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
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
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Kubisch, Christian
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Denecke, Jonas
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Campeau, Philippe M.
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Bain, Jennifer M.
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Lessel, Davor
2021
http://purl.org/ontology/bibo/Article
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment
2021 .
Bahena, Paulina
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Daftarian, Narsis
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Maroofian, Reza
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Linares, Paola
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Villalobos, Daniel
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Mirrahimi, Mehraban
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Rad, Aboulfazl
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Doll, Julia
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Hofrichter, Michaela A. H.
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Koparir, Asuman
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Röder, Tabea
|
Han, Seungbin
|
Sabbaghi, Hamideh
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Ahmadieh, Hamid
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Behboudi, Hassan
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Villanueva-Mendoza, Cristina
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Cortés-Gonzalez, Vianney
|
Zamora-Ortiz, Rocio
|
Kohl, Susanne
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Kuehlewein, Laura
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Darvish, Hossein
|
Alehabib, Elham
|
Arenas-Sordo, Maria de la Luz
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Suri, Fatemeh
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Vona, Barbara
|
Haaf, Thomas
2021
http://purl.org/ontology/bibo/Article
De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome
2020 .
Ufartes, Roser
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Berger, Hanna
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Till, Katharina
|
Salinas, Gabriela
|
Sturm, Marc
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Altmüller, Janine
|
Nürnberg, Peter
|
Thiele, Holger
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Funke, Rudolf
|
Apeshiotis, Neophytos
|
Langen, Hendrik
|
Wollnik, Bernd
|
Borchers, Annette
|
, Silke
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
|
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
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Burfeind, Peter
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Buchovecky, Christie M.
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Hasenfuss, Gerd
|
Honig, Barry
|
Li, Yun
|
Iglesias, Alejandro
|
Wollnik, Bernd
2020
http://purl.org/ontology/bibo/Article