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Pedigree [MeSH]
[x]
Metabolic Diseases
[x]
Sacherschließung
Original Investigation
(7)
Molecular Medicine
(7)
Humans [MeSH]
(5)
Human Genetics
(5)
Gene Function
(5)
Male [MeSH]
(3)
Phenotype [MeSH]
(2)
Genes, Dominant [MeSH]
(2)
Publikationstyp
Artikel
(7)
Erscheinungsjahr
2021
(6)
2020
(1)
Institution
7 Treffer
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
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
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
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment
2021 .
Bahena, Paulina
|
Daftarian, Narsis
|
Maroofian, Reza
|
Linares, Paola
|
Villalobos, Daniel
|
Mirrahimi, Mehraban
|
Rad, Aboulfazl
|
Doll, Julia
|
Hofrichter, Michaela A. H.
|
Koparir, Asuman
|
Röder, Tabea
|
Han, Seungbin
|
Sabbaghi, Hamideh
|
Ahmadieh, Hamid
|
Behboudi, Hassan
|
Villanueva-Mendoza, Cristina
|
Cortés-Gonzalez, Vianney
|
Zamora-Ortiz, Rocio
|
Kohl, Susanne
|
Kuehlewein, Laura
|
Darvish, Hossein
|
Alehabib, Elham
|
Arenas-Sordo, Maria de la Luz
|
Suri, Fatemeh
|
Vona, Barbara
|
Haaf, Thomas
2021
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
|
Argyriou, Loukas
|
Martínez-Azorín, Francisco
|
Morlot, Susanne
|
Yigit, Gökhan
|
Lee, Teresa
|
Auber, Bernd
|
von Gise, Alexander
|
Petrey, Donald S.
|
Thiele, Holger
|
Cyganek, Lukas
|
Sabater-Molina, Maria
|
Ahimaz, Priyanka
|
Cabezas-Herrera, Juan
|
Sorlí García , Moises
|
Zibat, Arne
|
Siegelin, Markus
|
Burfeind, Peter
|
Buchovecky, Christie M.
|
Hasenfuss, Gerd
|
Honig, Barry
|
Li, Yun
|
Iglesias, Alejandro
|
Wollnik, Bernd
2020
http://purl.org/ontology/bibo/Article