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Artikel
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Sacherschließung
article
(2)
Transcription Factors/genetics [MeSH]
(1)
Phenotype [MeSH]
(1)
Neurodevelopmental Disorders/genetics [MeSH]
(1)
Intellectual Disability/genetics [MeSH]
(1)
Humans [MeSH]
(1)
Female [MeSH]
(1)
DNA-Binding Proteins/genetics [MeSH]
(1)
Base Sequence [MeSH]
(1)
Autistic Disorder/genetics [MeSH]
(1)
Publikationstyp
Medium
Erscheinungsjahr
2024
(2)
Institution
2 Treffer
Kurzansicht
E-Jahr
Zugriff
Typ
Operations
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies
2024 .
Stegmann, Jil Debora
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Kalanithy, Jeshurun C.
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Dworschak, Gabriel C.
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Ishorst, Nina
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Mingardo, Enrico
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Lopes, Filipa M.
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Ho, Yee Mang
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Grote, Phillip
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Lindenberg, Tobias T.
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Yilmaz, Öznur
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Channab, Khadija
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Seltzsam, Steve
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Shril, Shirlee
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Hildebrandt, Friedhelm
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Boschann, Felix
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Heinen, André
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Jolly, Angad
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Myers, Katherine
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McBride, Kim
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Bekheirnia, Mir Reza
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Bekheirnia, Nasim
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Scala, Marcello
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Morleo, Manuela
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Nigro, Vincenzo
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Torella, Annalaura
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TUDP consortium
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Pinelli, Michele
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Capra, Valeria
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Accogli, Andrea
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Maitz, Silvia
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Spano, Alice
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Olson, Rory J.
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Klee, Eric
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Lanpher, Brendan C.
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Jang, Se Song
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Chae, Jong-Hee
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Steinbauer, Philipp
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Rieder, Dietmar
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Janecke, Andreas R.
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Vodopiutz, Julia
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Vogel, Ida
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Blechingberg, Jenny
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Cohen, Jennifer L.
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Riley, Kacie
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Klee, Victoria
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Walsh, Laurence E.
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Begemann, Matthias
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Elbracht, Miriam
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Eggermann, Thomas
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Stoppe, Arzu
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Stuurman, Kyra
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van Slegtenhorst, Marjon
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Barakat, Stefan
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Mulhern, Maureen S.
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Sands, Tristan T.
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Cytrynbaum, Cheryl
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Weksberg, Rosanna
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Isidori, Federica
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Pippucci, Tommaso
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Severi, Giulia
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Montanari, Francesca
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Kruer, Michael
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Bakhtiari, Somayeh
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Darvish, Hossein
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Reutter, Heiko
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Hagelueken, Gregor
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Geyer, Matthias
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Woolf, Adrian Spencer
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Posey, Jennifer
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Lupski, James R.
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Odermatt, Benjamin
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Hilger, Alina Christine
2024
http://purl.org/ontology/bibo/Article
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder
2024 .
Albuainain, Fatimah
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Shi, Yuwei
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Lor-Zade, Sarah
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Hüffmeier, Ulrike
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Pauly, Melissa
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Reis, André
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Faivre, Laurence
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Maraval, Julien
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Bruel, Ange-Line
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Tran Mau Them, Frederic
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Haack, Tobias B.
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Grasshoff, Ute
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Horber, Veronka
|
Schot, Rachel
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van Slegtenhorst, Marjon
|
Wilke, Martina
|
Barakat, Stefan
2024
http://purl.org/ontology/bibo/Article