Radka Stoeva
6PUBLICATIONS
125CO-AUTHORS
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Publications (6)
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|Dec 12, 2024
Further delineation of the SCAF4-associated neurodevelopmental disorder.Cosima M Schmid, Anne Gregor, Anna Ruiz
|Sep 27, 2024
Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum.Véronique Pingault, Cécilia Neiva-Vaz, Judite de Oliveira
|Sep 10, 2024
Genetic modifiers and ascertainment drive variable expressivity of complex disorders.Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina
|Jul 26, 2024
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree
|Apr 27, 2024
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree
|Feb 20, 2024
Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth.Frederike L Harms, Jessica Erin Rexach, Stephanie Efthymiou
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Frequent Collaborators
3 joint publications
Andre Reis
3 joint publications
Christiane Zweier
3 joint publications
Lucie Dupuis
3 joint publications
R Frank Kooy
3 joint publications
Esther Nibbeling
2 joint publications
Zdeněk Sedláček
2 joint publications
Wendy K Chung
2 joint publications
Dana E Layo-Carris
2 joint publications
Rajesh Angireddy
2 joint publications
Roberto Mendoza-Londono
