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Author/Creator Dreha-Kulaczewski, Steffi

1. A novel remitting leukodystrophy associated with a variant in FBP2. Issue 2 (11th March 2021)

Authors:
Gizak, Agnieszka; Diegmann, Susann; Dreha-Kulaczewski, Steffi; Wiśniewski, Janusz; Duda, Przemysław; Ohlenbusch, Andreas; Huppke, Brenda; Henneke, Marco; Höhne, Wolfgang; Altmüller, Janine; Thiele, Holger; Nürnberg, Peter; Rakus, Dariusz; Gärtner, Jutta; Huppke, Peter
Journal:
Brain communications
Issue:
Volume 3:Issue 2(2021)
Page Start:
Record Type:
Journal Article
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2. Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder. Issue 1 (December 2017)

Authors:
Huppke, Peter; Weissbach, Susann; Church, Joseph; Schnur, Rhonda; Krusen, Martina; Dreha-Kulaczewski, Steffi; Kühn-Velten, W. Nikolaus; Wolf, Annika; Huppke, Brenda; Millan, Francisca; Begtrup, Amber; Almusafri, Fatima; Thiele, Holger; Altmüller, Janine; Nürnberg, Peter; Müller, Michael; Gärtner,...
Journal:
Nature communications
Issue:
Volume 8:Issue 1(2017)
Page Start:
1
Record Type:
Journal Article
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3. Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review. Issue 1 (December 2016)

Authors:
Kettwig, Matthias; Elpeleg, Orly; Wegener, Eike; Dreha-Kulaczewski, Steffi; Henneke, Marco; Gärtner, Jutta; Huppke, Peter
Journal:
BMC neurology
Issue:
Volume 16:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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4. Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome. Issue 4 (17th August 2018)

Authors:
Pauli, Silke; Altmüller, Janine; Schröder, Simone; Ohlenbusch, Andreas; Dreha-Kulaczewski, Steffi; Bergmann, Carsten; Nürnberg, Peter; Thiele, Holger; Li, Yun; Wollnik, Bernd; Brockmann, Knut
Journal:
Journal of medical genetics
Issue:
Volume 56:Issue 4(2019)
Page Start:
261
Record Type:
Journal Article
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