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Artikel
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Sacherschließung
Humans [MeSH]
(2)
correction
(1)
article
(1)
Rare Diseases/genetics [MeSH]
(1)
Rare Diseases/diagnosis [MeSH]
(1)
Phenotype [MeSH]
(1)
Original Investigation
(1)
Neurodevelopmental Disorders/pathology [MeSH]
(1)
Neurodevelopmental Disorders/genetics [MeSH]
(1)
Neurodegenerative Diseases/pathology [MeSH]
(1)
Publikationstyp
Medium
Erscheinungsjahr
2024
(3)
Institution
3 Treffer
Kurzansicht
E-Jahr
Zugriff
Typ
Operations
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals
2024 .
Layo-Carris, Dana
|
Lubin, Emily
|
Sangree, Annabel
|
Clark, Kelly J.
|
Durham, Emily L.
|
Gonzalez, Elizabeth M.
|
Smith, Sarina
|
Angireddy, Rajesh
|
Wang, Xiao Min
|
Weiss, Erin
|
Toutain, Annick
|
Mendoza-Londono, Roberto
|
Dupuis, Lucie
|
Damseh, Nadirah
|
Velasco, Danita
|
Valenzuela, Irene
|
Codina-Solà, Marta
|
Ziats, Catherine
|
Have, Jaclyn
|
Clarkson, Lola Kate B.
|
Steel, Dora
|
Kurian, Manju
|
Barwick, Katy
|
Carrasco, Diana
|
Dagli, Aditi I.
|
Nowaczyk, M. J. M.
|
Hančárová, Miroslava
|
Bendová, Šárka
|
Prchalova, Darina
|
Sedlacek, Zdenek
|
Baxová, Alica
|
Nowak, Catherine Bearce
|
Douglas, Jessica
|
Chung, Wendy
|
Longo, Nicola
|
Platzer, Konrad
|
Klöckner, Chiara
|
Averdunk, Luisa
|
Wieczorek, Dagmar
|
Krey, Ilona
|
Zweier, Christiane
|
Reis, André
|
Balci, Tugce
|
Simon, Marleen
|
Kroes, Hester Y.
|
Wiesener, Antje
|
Vasileiou, Georgia
|
Marinakis, Nikolaos
|
VELTRA, DANAI
|
Sofocleous, Christalena
|
Kosma, Konstantina
|
Traeger-Synodinos, Jan
|
Voudris, Konstantinos A.
|
Vuillaume, Marie-laure
|
Gueguen, Paul
|
Derive, Nicolas
|
colin, estelle
|
Battault, Clarisse
|
Au, Billie
|
Delatycki, Martin
|
Wallis, Mathew
|
Gallacher, Lyndon
|
Majdoub, Fatma
|
Smal, Noor
|
Weckhuysen, Sarah
|
Schoonjans, An-Sofie
|
Kooy, Frank
|
Meuwissen, Marije
|
Cocanougher, Benjamin T.
|
Taylor, Kathryn
|
Pizoli, Carolyn E.
|
McDonald, Marie T.
|
James, Philip
|
Roeder, Elizabeth R.
|
Littlejohn, Rebecca
|
Borja, Nicholas
|
Thorson, Willa
|
King, Kristine
|
Stoeva, Radka
|
Suerink, Manon
|
Nibbeling, Esther
|
Baskin, Stephanie
|
Le Guyader, Gwenaël
|
Kaplan, Julie
|
Muss, Candace
|
Carere, Deanna Alexis
|
Bhoj, Elizabeth
|
Bryant, Laura M.
2024
http://purl.org/ontology/bibo/Article
The MorbidGenes panel: a monthly updated list of diagnostically relevant rare disease genes derived from diverse sources
2024 .
Jauss, Robin-Tobias
|
Popp, Bernt
|
Bachmann, Joachim
|
Abou Jamra, Rami
|
Platzer, Konrad
2024
http://purl.org/ontology/bibo/Article
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals
2024 .
Layo-Carris, Dana
|
Lubin, Emily
|
Sangree, Annabel
|
Clark, Kelly J.
|
Durham, Emily L.
|
Gonzalez, Elizabeth M.
|
Smith, Sarina
|
Angireddy, Rajesh
|
Wang, Xiao Min
|
Weiss, Erin
|
Toutain, Annick
|
Mendoza-Londono, Roberto
|
Dupuis, Lucie
|
Damseh, Nadirah
|
Velasco, Danita
|
Valenzuela, Irene
|
Codina-Solà, Marta
|
Ziats, Catherine
|
Have, Jaclyn
|
Clarkson, Lola Kate B.
|
Steel, Dora
|
Kurian, Manju
|
Barwick, Katy
|
Carrasco, Diana
|
Dagli, Aditi I.
|
Nowaczyk, M. J. M.
|
Hančárová, Miroslava
|
Bendová, Šárka
|
Prchalova, Darina
|
Sedlacek, Zdenek
|
Baxová, Alica
|
Nowak, Catherine Bearce
|
Douglas, Jessica
|
Chung, Wendy
|
Longo, Nicola
|
Platzer, Konrad
|
Klöckner, Chiara
|
Averdunk, Luisa
|
Wieczorek, Dagmar
|
Krey, Ilona
|
Zweier, Christiane
|
Reis, André
|
Balci, Tugce
|
Simon, Marleen
|
Kroes, Hester Y.
|
Wiesener, Antje
|
Vasileiou, Georgia
|
Marinakis, Nikolaos
|
VELTRA, DANAI
|
Sofocleous, Christalena
|
Kosma, Konstantina
|
Traeger-Synodinos, Jan
|
Voudris, Konstantinos A.
|
Vuillaume, Marie-laure
|
Gueguen, Paul
|
Derive, Nicolas
|
colin, estelle
|
Battault, Clarisse
|
Au, Billie
|
Delatycki, Martin
|
Wallis, Mathew
|
Gallacher, Lyndon
|
Majdoub, Fatma
|
Smal, Noor
|
Weckhuysen, Sarah
|
Schoonjans, An-Sofie
|
Kooy, Frank
|
Meuwissen, Marije
|
Cocanougher, Benjamin T.
|
Taylor, Kathryn
|
Pizoli, Carolyn E.
|
McDonald, Marie T.
|
James, Philip
|
Roeder, Elizabeth R.
|
Littlejohn, Rebecca
|
Borja, Nicholas
|
Thorson, Willa
|
King, Kristine
|
Stoeva, Radka
|
Suerink, Manon
|
Nibbeling, Esther
|
Baskin, Stephanie
|
Le Guyader, Gwenaël
|
Kaplan, Julie
|
Muss, Candace
|
Carere, Deanna Alexis
|
Bhoj, Elizabeth
|
Bryant, Laura M.
2024
http://purl.org/ontology/bibo/Article