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Sacherschließung
Human Genetics
(33)
Humans [MeSH]
(28)
Molecular Medicine
(24)
Metabolic Diseases
(16)
Gene Function
(16)
Original Investigation
(14)
Male [MeSH]
(10)
Phenotype [MeSH]
(6)
Mutation [MeSH]
(5)
Female [MeSH]
(5)
Publikationstyp
Artikel
(33)
Erscheinungsjahr
2021
(26)
2020
(7)
Institution
33 Treffer
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Kurzansicht
E-Jahr
Zugriff
Typ
Operations
Immune-mediated glomerular diseases: new basic concepts and clinical implications
2021 .
Panzer, Ulf
|
Huber, Tobias B.
2021
http://purl.org/ontology/bibo/Article
Biallelic variants in YRDC cause a developmental disorder with progeroid features
2021 .
Schmidt, Julia
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Goergens, Jonas
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Pochechueva, Tatiana
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Kotter, Annika
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Schwenzer, Niko
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Sitte, Maren
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Werner, Gesa
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Altmüller, Janine
|
Thiele, Holger
|
Nürnberg, Peter
|
Isensee, Jörg
|
Li, Yun
|
Müller, Christian
|
Leube, Barbara
|
Reinhardt, H. Christian
|
Hucho, Tim
|
Salinas, Gabriela
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Helm, Mark
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Jachimowicz, Ron D.
|
Wieczorek, Dagmar
|
Kohl, Tobias
|
Lehnart, Stephan E.
|
Yigit, Gökhan
|
Wollnik, Bernd
2021
http://purl.org/ontology/bibo/Article
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy
2021 .
Parenti, Ilaria
|
Lehalle, Daphné
|
Nava, Caroline
|
Torti, Erin
|
Leitão, Elsa
|
Person, Richard
|
Mizuguchi, Takeshi
|
Matsumoto, Naomichi
|
Kato, Mitsuhiro
|
Nakamura, Kazuyuki
|
de Man, Stella
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Cope, Heidi
|
Shashi, Vandana
|
Friedman, Jennifer
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Joset, Pascal
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Steindl, Katharina
|
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
|
Sorlin, Arthur
|
Vitobello, Antonio
|
PHILIPPE, Christophe
|
van de Laar, Ingrid
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van Slegtenhorst, Marjon A.
|
Campeau, Philippe
|
Au, Ping Yee
|
Nakashima, Mitsuko
|
Saitsu, Hirotomo
|
Yamamoto, Tatsuya
|
Nomura, Yumiko
|
Louie, Raymond
|
Lyons, Michael
|
Dobson, Amy
|
Plomp, Astrid S.
|
Motazacker, M. Mahdi
|
Kaiser, Frank J.
|
Timberlake, Andrew
|
Fuchs, Sabine
|
Depienne, Christel
|
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
|
B. Estruch, Sara
|
Maassen, Ben
|
Franke, Barbara
|
Francks, Clyde
|
Fisher, Simon
2021
http://purl.org/ontology/bibo/Article
Editorial for the special issue "Olfactory Coding and Circuitries"
2021 .
Sachse, Silke
|
Manzini, Ivan
2021
http://purl.org/ontology/bibo/Article
Response to Letter to the editor on: “Never too late? Quadruplets at the age of 65 years”
2021 .
Hinkson, Larry
|
Dame, Christof
|
Braun, Thorsten
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Nachtigall, Irit
|
Henrich, Wolfgang
2021
http://purl.org/ontology/bibo/Article
Welcoming articles on genotype-dependent clinical features and diagnostics
2021 .
Auburger, Georg
|
Graeber, Manuel B.
|
Ptáček, Louis J.
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
|
Piard, Juliette
|
Fischer-Zirnsak, Björn
|
Klever, Marius-Konstantin
|
Schöpflin, Robert
|
Mensah, Martin Atta
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Holtgrewe, Manuel
|
Arbez-Gindre, Francine
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Martin, Alain
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Guigue, Virginie
|
Gaillard, Dominique
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Landais, Emilie
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Roze, Virginie
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Kremer, Valerie
|
Ramanah, Rajeev
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Cabrol, Christelle
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Harms, Frederike L.
|
Kornak, Uwe
|
Spielmann, Malte
|
Mundlos, Stefan
|
Van Maldergem, Lionel
2021
http://purl.org/ontology/bibo/Article
Genotype imputation in case-only studies of gene-environment interaction: validity and power
2021 .
Aleknonytė-Resch, Milda
|
Szymczak, Silke
|
Freitag-Wolf, Sandra
|
Dempfle, Astrid
|
Krawczak, Michael
2021
http://purl.org/ontology/bibo/Article
Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions
2021 .
Kehrer-Sawatzki, Hildegard
|
Cooper, David N.
2021
http://purl.org/ontology/bibo/Article
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