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Author/Creator Busche, Andreas

1. ANKRD11 variants: KBG syndrome and beyond. Issue 2 (14th May 2021)

Authors:
Parenti, Ilaria; Mallozzi, Mark B.; Hüning, Irina; Gervasini, Cristina; Kuechler, Alma; Agolini, Emanuele; Albrecht, Beate; Baquero‐Montoya, Carolina; Bohring, Axel; Bramswig, Nuria C.; Busche, Andreas; Dalski, Andreas; Guo, Yiran; Hanker, Britta; Hellenbroich, Yorck; Horn, Denise; Innes, A. Mich...
Journal:
Clinical genetics
Issue:
Volume 100:Issue 2(2021)
Page Start:
187
Record Type:
Journal Article
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2. Novel Mutations Including Deletions of the Entire OFD1 Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability. Issue 1 (17th October 2012)

Authors:
Bisschoff, Izak J.; Zeschnigk, Christine; Horn, Denise; Wellek, Brigitte; Rieß, Angelika; Wessels, Maja; Willems, Patrick; Jensen, Peter; Busche, Andreas; Bekkebraten, Jens; Chopra, Maya; Hove, Hanne Dahlgaard; Evers, Christina; Heimdal, Ketil; Kaiser, Ann‐Sophie; Kunstmann, Erdmut; Robinson, Kri...
Journal:
Human mutation
Issue:
Volume 34:Issue 1(2013:Jan.)
Page Start:
237
Record Type:
Journal Article
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4. Variants in CUL4B are Associated with Cerebral Malformations. Issue 1 (January 2015)

Authors:
Vulto‐van Silfhout, Anneke T.; Nakagawa, Tadashi; Bahi‐Buisson, Nadia; Haas, Stefan A.; Hu, Hao; Bienek, Melanie; Vissers, Lisenka E.L.M.; Gilissen, Christian; Tzschach, Andreas; Busche, Andreas; Müsebeck, Jörg; Rump, Patrick; Mathijssen, Inge B.; Avela, Kristiina; Somer, Mirja; Doagu, Fatma; Phi...
Journal:
Human mutation
Issue:
Volume 36:Issue 1(2015:Jan.)
Page Start:
106
Record Type:
Journal Article
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5. WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly. Issue 10 (21st July 2022)

Authors:
Bögershausen, Nina; Krawczyk, Hannah E.; Jamra, Rami A.; Lin, Sheng‐Jia; Yigit, Gökhan; Hüning, Irina; Polo, Anna M.; Vona, Barbara; Huang, Kevin; Schmidt, Julia; Altmüller, Janine; Luppe, Johannes; Platzer, Konrad; Dörgeloh, Beate B.; Busche, Andreas; Biskup, Saskia; Mendes, Marisa I.; Smith, De...
Journal:
Human mutation
Issue:
Volume 43:Issue 10(2022)
Page Start:
1454
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗