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Original Investigation
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Sacherschließung
Molecular Medicine
(14)
Metabolic Diseases
(14)
Humans [MeSH]
(14)
Human Genetics
(14)
Gene Function
(14)
Male [MeSH]
(8)
Phenotype [MeSH]
(5)
Pedigree [MeSH]
(5)
Female [MeSH]
(4)
Publikationstyp
Erscheinungsjahr
2021
(11)
2020
(3)
Institution
14 Treffer
Seiten
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Kurzansicht
E-Jahr
Zugriff
Typ
Operations
Biallelic variants in YRDC cause a developmental disorder with progeroid features
2021 .
Schmidt, Julia
|
Goergens, Jonas
|
Pochechueva, Tatiana
|
Kotter, Annika
|
Schwenzer, Niko
|
Sitte, Maren
|
Werner, Gesa
|
Altmüller, Janine
|
Thiele, Holger
|
Nürnberg, Peter
|
Isensee, Jörg
|
Li, Yun
|
Müller, Christian
|
Leube, Barbara
|
Reinhardt, H. Christian
|
Hucho, Tim
|
Salinas, Gabriela
|
Helm, Mark
|
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
|
Cope, Heidi
|
Shashi, Vandana
|
Friedman, Jennifer
|
Joset, Pascal
|
Steindl, Katharina
|
Rauch, Anita
|
Muffels, Irena
|
van Hasselt, Peter M
|
petit, florence
|
Smol, Thomas
|
Le Guyader, Gwenaël
|
Bilan, Frédéric
|
Sorlin, Arthur
|
Vitobello, Antonio
|
PHILIPPE, Christophe
|
van de Laar, Ingrid
|
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
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
|
Holtgrewe, Manuel
|
Arbez-Gindre, Francine
|
Martin, Alain
|
Guigue, Virginie
|
Gaillard, Dominique
|
Landais, Emilie
|
Roze, Virginie
|
Kremer, Valerie
|
Ramanah, Rajeev
|
Cabrol, Christelle
|
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
Genome sequencing in families with congenital limb malformations
2021 .
Elsner, Jonas
|
Mensah, Martin A.
|
Holtgrewe, Manuel
|
Hertzberg, Jakob
|
Bigoni, Stefania
|
Busche, Andreas
|
Coutelier, Marie
|
de Silva, Deepthi C.
|
Elçioglu, Nursel
|
Filges, Isabel
|
Gerkes, Erica
|
Girisha, Katta M.
|
Graul-Neumann, Luitgard
|
Jamsheer, Aleksander
|
Krawitz, Peter
|
Kurth, Ingo
|
Markus, Susanne
|
Megarbane, Andre
|
Reis, André
|
Reuter, Miriam S.
|
Svoboda, Daniel
|
Teller, Christopher
|
Tuysuz, Beyhan
|
Türkmen, Seval
|
Wilson, Meredith
|
Woitschach, Rixa
|
Vater, Inga
|
Caliebe, Almuth
|
Hülsemann, Wiebke
|
Horn, Denise
|
Mundlos, Stefan
|
Spielmann, Malte
2021
http://purl.org/ontology/bibo/Article
Embeddings from protein language models predict conservation and variant effects
2021 .
Marquet, Céline
|
Heinzinger, Michael
|
Olenyi, Tobias
|
Dallago, Christian
|
Erckert, Kyra
|
Bernhofer, Michael
|
Nechaev, Dmitrii
|
Rost, Burkhard
2021
http://purl.org/ontology/bibo/Article
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans
2021 .
Vona, Barbara
|
Mazaheri, Neda
|
Lin, Sheng-Jia
|
Dunbar, Lucy
|
Maroofian, Reza
|
Azaiez, Hela
|
Booth, Kevin T.
|
Vitry, Sandrine
|
Rad, Abolfazl
|
Rüschendorf, Franz
|
Varshney, Pratishtha
|
Fowler, Ben
|
Beetz, Christian
|
Alagramam, Kumar N.
|
Murphy, David
|
Shariati, Gholamreza
|
Sedaghat, Alireza
|
Houlden, Henry
|
Petree, Cassidy
|
VijayKumar, Shruthi
|
Smith, Richard
|
Haaf, Thomas
|
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
|
Wagner, Matias
|
Weigand, Heike
|
McConkie-Rossell, Allyn
|
McDonald, Marie
|
Keren, Boris
|
Mignot, Cyril
|
Gauthier, Julie
|
Soucy, Jean-François
|
Michaud, Jacques L.
|
Dumas, Meghan
|
Smith, Rosemarie
|
Löbel, Ulrike
|
Hempel, Maja
|
Kubisch, Christian
|
Denecke, Jonas
|
Campeau, Philippe M.
|
Bain, Jennifer M.
|
Lessel, Davor
2021
http://purl.org/ontology/bibo/Article
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