Katalin Szakszon
4PUBLICATIONS
14CO-AUTHORS
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Publications (4)
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|Mar 12, 2024
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.Didier Lacombe, Agnès Bloch-Zupan, Cecilie Bredrup
|Aug 14, 2023
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.Katalin Szakszon, Charles Marques Lourenco, Bert Louis Callewaert
|Dec 23, 2022
Helsmoortel-Van der Aa Syndrome-Cardiothoracic and Ectodermal Manifestations in Two Patients as Further Support of a Previous Observation on Phenotypic Overlap with RASopathies.Tímea Margit Szabó, István Balogh, Anikó Ujfalusi
|Nov 22, 2017
Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.Rüstem Yilmaz, Katalin Szakszon, Anna Altmann
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Frequent Collaborators
1 joint publications
Guntram Borck
1 joint publications
Tímea Margit Szabó
1 joint publications
István Balogh
1 joint publications
Anikó Ujfalusi
1 joint publications
Zsuzsanna Szűcs
1 joint publications
Anne-Sophie Denommé-Pichon
1 joint publications
Eric Klee
1 joint publications
Tobias B Haack
1 joint publications
Andrea Superti-Furga
1 joint publications
Servi J C Stevens
