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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
Artikel
(2)
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
|
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
|
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
|
Rieder, Dietmar
|
Janecke, Andreas R.
|
Vodopiutz, Julia
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Vogel, Ida
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Blechingberg, Jenny
|
Cohen, Jennifer L.
|
Riley, Kacie
|
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
|
Mulhern, Maureen S.
|
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
|
Montanari, Francesca
|
Kruer, Michael
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Bakhtiari, Somayeh
|
Darvish, Hossein
|
Reutter, Heiko
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Hagelueken, Gregor
|
Geyer, Matthias
|
Woolf, Adrian Spencer
|
Posey, Jennifer
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Lupski, James R.
|
Odermatt, Benjamin
|
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
|
Shi, Yuwei
|
Lor-Zade, Sarah
|
Hüffmeier, Ulrike
|
Pauly, Melissa
|
Reis, André
|
Faivre, Laurence
|
Maraval, Julien
|
Bruel, Ange-Line
|
Tran Mau Them, Frederic
|
Haack, Tobias B.
|
Grasshoff, Ute
|
Horber, Veronka
|
Schot, Rachel
|
van Slegtenhorst, Marjon
|
Wilke, Martina
|
Barakat, Stefan
2024
http://purl.org/ontology/bibo/Article