Kirsten Cremer - Veröffentlichungen allgemein

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Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia,...

core.ac.uk

... Corinne Gemperle-Britschgi, Kirsten Cremer, Hartmut Engels, David Meili, Irene Keller, Rémy Bruggmann, Tim M. Strom, Thomas Meitinger, James C. Mullikin ...

Microdeletions in 9q33.3-q in five patients with intellectual...

link.springer.com

Julia K. Ehret, Hartmut Engels, Kirsten Cremer, Jessica Becker, Johannes P. Zimmermann, Eva Wohlleber, Elisabeth Mangold, Stefanie Schön, ...

(PDF) KCNC1 ‐related Disorders: New De Novo Variants Expand

research.amanote.com

KCNC1 ‐related Disorders: New De Novo Variants Expand the Phenotypic Spectrum by Joohyun Park, Mahmoud Koko, Ulrike B. S. Hedrich, Andreas Hermann,

De novo mutations in beta-catenin (CTNNB1) appear to be COREcore.ac.uk › MUCC (Crossref)

core.ac.uk

... Dennis W. Bartholomew, Hans van Bokhoven, Marie Jose H. van den Boogaard, Nuria Bramswig, Christian Büttner, Kirsten Cremer, Johanna Christina Czeschik, ...

Deficiency of ECHS1 causes mitochondrial ...CORE

core.ac.uk

Kirsten Cremer · Beate Albrecht · Dagmar Wieczorek · Hartmut Engels · Dagmar Karen Hahn · Alexander M Zink · Charlotte L Alston · Robert W Taylor · Richard J ...

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Veröffentlichungen allgemein Kirsten Cremer

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia,...

Microdeletions in 9q33.3-q in five patients with intellectual...

(PDF) KCNC1 ‐related Disorders: New De Novo Variants Expand

De novo mutations in beta-catenin (CTNNB1) appear to be COREcore.ac.uk › MUCC (Crossref)

Deficiency of ECHS1 causes mitochondrial ...CORE