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Enrico Konrad
List of publications:
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Institute of Human Genetics
Publications
(4)
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Journal article
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Book chapter / Article in edited volumes
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CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum (2019)
Konrad E, Nardini N, Caliebe A, Nagel I, Young D, Horvath G, Santoro SL, et al.
Journal article
CTCF variants in 31 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum (2019)
Konrad E, Nardini N, Blyth M, Prescott K, Bouman AM, Brilstra EH, Caliebe A, et al.
Conference contribution
De novo missense variants in RHOBTB2 cause a developmental and epileptic encephalopathy in humans, and altered levels cause neurological defects in Drosophila (2019)
Straub J, Konrad E, Grüner J, Toutain A, Bok LA, Cho MT, Crawford HP, et al.
Conference contribution
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila (2018)
Straub J, Konrad E, Grüner J, Toutain A, Bok LA, Cho MT, Crawford HP, et al.
Journal article