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Christina D. Fenger

Danish Epilepsy Centre

SCHOLARLY PAPERS

2

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144

TOTAL CITATIONS

0

Scholarly Papers (2)

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1.

Cyclical Vomiting Syndrome in Individuals with Bptf-Haploinsufficiency

Number of pages: 52 Posted: 21 Feb 2025
Alessandro Ferretti, Margherita Furlan, Kevin E. Glinton, Christina D. Fenger, Felix Boschann, Shimriet Zeidler, Corinna Stoltenburg, Tahsin Stefan Barakat, Julian A. Martinez-Agosto, Orrin Devinsky, Francesca Furia, Guido Rubboli, Anteo Di Napoli, Giulia Bellone, Silvia Furio, Marisa Piccirillo, Maurizio Mennini, Giovanni Di Nardo, Pasquale Parisni, Rikke S. Møller, Yaping Yang, Pawel Stankiewicz and Elena Gardella
Sapienza University of Rome, Sapienza University of Rome, affiliation not provided to SSRN, Danish Epilepsy Centre, Charité - Universitätsmedizin Berlin, Erasmus University Rotterdam (EUR), Charité - Universitätsmedizin Berlin, Erasmus University Rotterdam (EUR) - Department of Clinical Genetics, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, Sapienza University of Rome, Sapienza University of Rome, Sapienza University of Rome, affiliation not provided to SSRN, Sapienza University of Rome, University of Rome I - NESMOS Department, Danish Epilepsy Centre, affiliation not provided to SSRN, affiliation not provided to SSRN and affiliation not provided to SSRN
Downloads 82 (790,029)

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bromodomain PHD finger transcription factor gene, BPTF, cyclical vomiting syndrome, neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, NEDDFL

2.

Expanding the Pre- and Postnatal Phenotype of WASHC5 and CCDC22 -Related Ritscher-Schinzel Syndromes

Number of pages: 15 Posted: 31 May 2022
Sabrina Neri, Nuno Maia, Ana M. Fortuna, Joana Damasio, Elizabeth Coale, Mary Willis, Paula Jorge, Anne F. Højte, Christina D. Fenger, Rikke S. Møller and Allan Bayat
Danish Epilepsy Centre, Universidade do Porto - Centro Hospitalar Universitário do Porto, Universidade do Porto - Unit for Multidisciplinary Research in Biomedicine (UMIB), Universidade do Porto - Unit for Multidisciplinary Research in Biomedicine (UMIB), University of Washington - Medical Center, Naval Medical Center San Diego, Universidade do Porto - Centro Hospitalar Universitário do Porto, Danish Epilepsy Centre, Danish Epilepsy Centre, Danish Epilepsy Centre and Danish Epilepsy Centre
Downloads 62 (970,490)

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RTSCS, prenatal ultrasound, nuchal thickening, short nasal bridge, facial dismorphisms