European Journal of Human Genetics

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11.10.2021

Familial cleft tongue caused by a unique translation initiation codon variant in TP63

Authors Schmidt J, Schreiber G, Altmüller J, Thiele H, Nürnberg P, Li Y, Kaulfuß S, Funke R, Wilken B, Yigit G, Wollnik B Journal European Journal of Human Genetics Citation Eur J Hum Genet. 2021 Oct 11. Abstract Variants in transcription factor p63 have been linked to several autosomal dominantly
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01.06.2020

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

Authors Drivas TG, Li D, Nair D, Alaimo JT, Alders M, Altmuller J, Barakat TS, Bebin EM, Bertsch NL, Blackburn PR, Blesson A, Bouman AM, Brockmann K, Brunelle P, Burmeister M, Cooper GM, Denecke J, … Wollnik B, et al. Journal European Journal of Human Genetics Citation Eur J Hum
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