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Neurodevelopmental Disorders/genetics [MeSH]
(2)
Humans [MeSH]
(2)
Whole Genome Sequencing [MeSH]
(1)
Whole Exome Sequencing [MeSH]
(1)
Ubiquitin-Activating Enzymes/genetics [MeSH]
(1)
Ubiquitin-Activating Enzymes/deficiency [MeSH]
(1)
Tyrosine-tRNA Ligase/genetics [MeSH]
(1)
Tyrosine-tRNA Ligase/chemistry [MeSH]
(1)
Transcription Factors/genetics [MeSH]
(1)
Transcription Factors/deficiency [MeSH]
(1)
Publikationstyp
Artikel
(3)
Erscheinungsjahr
2021
(3)
Institution
3 Treffer
Kurzansicht
E-Jahr
Zugriff
Typ
Operations
The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype
2021 .
Averdunk, Luisa
|
Sticht, Heinrich
|
Surowy, Harald
|
Lüdecke, Hermann-Josef
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Koch-Hogrebe, Margarete
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Alsaif, Hessa S.
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Kahrizi, Kimia
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Alzaidan, Hamad
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Alawam, Bashayer S.
|
Tohary, Mohamed
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Kraus, Cornelia
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Endele, Sabine
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Wadman, Erin
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Kaplan, Julie D.
|
Efthymiou, Stephanie
|
Najmabadi, Hossein
|
Reis, André
|
Alkuraya, Fowzan S.
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Wieczorek, Dagmar
2021
http://purl.org/ontology/bibo/Article
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum
2021 .
Hüffmeier, Ulrike
|
Kraus, Cornelia
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Reuter, Miriam S.
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Uebe, Steffen
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Abbott, Mary-Alice
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Ahmed, Syed A.
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Rawson, Kristyn L.
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Barr, Eileen
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Li, Hong
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Bruel, Ange-Line
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Faivre, Laurence
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Tran Mau-Them, Frédéric
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Botti, Christina
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Brooks, Susan
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Burns, Kaitlyn
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Ward, D. Isum
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Dutra-Clarke, Marina
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Martinez-Agosto, Julian A.
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Lee, Hane
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Nelson, Stanley F.
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Zacher, Pia
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Abou Jamra, Rami
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Klöckner, Chiara
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McGaughran, Julie
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Kohlhase, Jürgen
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Schuhmann, Sarah
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Moran, Ellen
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Pappas, John
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Raas-Rothschild, Annick
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Sacoto, Maria J. Guillen
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Henderson, Lindsay B.
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Palculict, Timothy Blake
|
Mullegama, Sureni V.
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Zghal Elloumi, Houda
|
Reich, Adi
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Schrier Vergano, Samantha A.
|
Wahl, Erica
|
Reis, André
|
Zweier, Christiane
2021
http://purl.org/ontology/bibo/Article
Genome sequencing in families with congenital limb malformations
2021 .
Elsner, Jonas
|
Mensah, Martin A.
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Holtgrewe, Manuel
|
Hertzberg, Jakob
|
Bigoni, Stefania
|
Busche, Andreas
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Coutelier, Marie
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de Silva, Deepthi C.
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Elçioglu, Nursel
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Filges, Isabel
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Gerkes, Erica
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Girisha, Katta M.
|
Graul-Neumann, Luitgard
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Jamsheer, Aleksander
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Krawitz, Peter
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Kurth, Ingo
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Markus, Susanne
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Megarbane, Andre
|
Reis, André
|
Reuter, Miriam S.
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Svoboda, Daniel
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Teller, Christopher
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Tuysuz, Beyhan
|
Türkmen, Seval
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Wilson, Meredith
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Woitschach, Rixa
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Vater, Inga
|
Caliebe, Almuth
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Hülsemann, Wiebke
|
Horn, Denise
|
Mundlos, Stefan
|
Spielmann, Malte
2021
http://purl.org/ontology/bibo/Article