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Author/Creator Kroisel, Peter

1. AG‐exclusion zone revisited: Lessons to learn from 91 intronic NF1 3′ splice site mutations outside the canonical AG‐dinucleotides. Issue 6 (11th March 2020)

Authors:
Wimmer, Katharina; Schamschula, Esther; Wernstedt, Annekatrin; Traunfellner, Pia; Amberger, Albert; Zschocke, Johannes; Kroisel, Peter; Chen, Yunjia; Callens, Tom; Messiaen, Ludwine
Journal:
Human mutation
Issue:
Volume 41:Issue 6(2020)
Page Start:
1145
Record Type:
Journal Article
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2. Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome. Issue 3 (12th January 2013)

Authors:
Gordon, Christopher T; Vuillot, Alice; Marlin, Sandrine; Gerkes, Erica; Henderson, Alex; AlKindy, Adila; Holder-Espinasse, Muriel; Park, Sarah S; Omarjee, Asma; Sanchis-Borja, Mateo; Bdira, Eya Ben; Oufadem, Myriam; Sikkema-Raddatz, Birgit; Stewart, Alison; Palmer, Rodger; McGowan, Ruth; Petit, F...
Journal:
Journal of medical genetics
Issue:
Volume 50:Issue 3(2013)
Page Start:
174
Record Type:
Journal Article
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3. Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases. Issue 5 (7th March 2022)

Authors:
Vegas, Nancy; Demir, Zeynep; Gordon, Christopher T.; Breton, Sylvain; Romanelli Tavares, Vanessa L.; Moisset, Hugo; Zechi‐Ceide, Roseli; Kokitsu‐Nakata, Nancy M.; Kido, Yasuhiro; Marlin, Sandrine; Gherbi Halem, Souad; Meerschaut, Ilse; Callewaert, Bert; Chung, Brian; Revencu, Nicole; Lehalle, Dap...
Journal:
Human mutation
Issue:
Volume 43:Issue 5(2022)
Page Start:
582
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗