Suchergebnisse - Eric Legius

Neonatal Epidermolytic Ichthyosis Caused by a KRT10 Mutation (c.467G>A, p.Arg156His): A Case Report von Elke Smits, Gunnar Naulaers, Maria C. Bolling, Eric Legius, Caroline Colmant

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Novel Identical Likely Pathogenic ACTB Variant in Congenital Smooth Muscle Hamartoma: A Report of Two Pediatric Cases von Caroline Colmant, Eric Legius, Ifigenia Spanoudi‐Kitrimi, Francesca Maria Bosisio, An Eerdekens, Rika Dubelloy, Hilde Brems

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Gonadales und gonadosomatisches Neurofibromatose‐Typ‐1‐Mosaik: ein Bericht über zwei Familien von Magdalena Seidl‐Philipp, Nathalie Veyt, Simon Schnaiter, Anne Krogsdam, Simon Schwendinger, Ophélia Maertens, Christine Fauth, Matthias Schmuth, Eric Legius, Katharina Wimmer, Hilde Brems

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The phenotypic and genotypic spectrum of individuals with mono‐ or biallelic ANK3 variants von Francesca Furia, Amanda M. Levy, Miel Theunis, Michael J. Bamshad, Meghan N. Bartos, Emilia K. Bijlsma, Francesco Brancati, Lucile Cejudo, Jessica X. Chong, Chiara De Luca, Sarah Joy Dean, Alena Egense, Himanshu Goel, Adam J. Guenzel, Ulrike Hüffmeier, Eric Legius, Grazia M. S. Mancini, Iñigo Marcos‐Alcalde, Tanguy Niclass, Marc Planes, Sylvia Redon, David Ros‐Pardo, Karen Rouault, Rachel Schot, Sarah Schuhmann, Joseph J. Shen, Alice M. Tao, Isabelle Thiffault, Hilde Van Esch, Ingrid M. Wentzensen, Tahsin Stefan Barakat, Rikke S. Møller, Paulino Gomez‐Puertas, Wendy K. Chung, Elena Gardella, Zeynep Tümer

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