René Santer - Dissemin

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All papers authored by René Santer

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2022 Miriam S. Reuter

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, Michael Zech, Maja Hempel, Janine Altmüller

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, Tracy Heung, Laura Pölsler

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, René Santer

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, Holger Thiele, Brett Trost

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, Christian Kubisch, Stephen W. Scherer

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, Sabine Rudnik-Schöneborn, Anne S. Bassett

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ORCID

Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies

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2016 René Santer

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, Marcel du Moulin, Tatevik Shahinyan, Inga Vater, Esther Maier, Ania C. Muntau, Beat Steinmann

A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis

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