Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex
…, U Grasshoff, S Spranger, P Stöbe, D Gauck… - Journal of medical …, 2023 - jmg.bmj.com
Background Fetal akinesia (FA) results in variable clinical presentations and has been
associated with more than 166 different disease loci. However, the underlying molecular cause …
associated with more than 166 different disease loci. However, the underlying molecular cause …
[HTML][HTML] Hybrid clone cells derived from human breast epithelial cells and human breast cancer cells exhibit properties of cancer stem/initiating cells
D Gauck, S Keil, B Niggemann, KS Zänker, T Dittmar - BMC cancer, 2017 - Springer
Background The biological phenomenon of cell fusion has been associated with cancer
progression since it was determined that normal cell × tumor cell fusion-derived hybrid cells …
progression since it was determined that normal cell × tumor cell fusion-derived hybrid cells …
Successful treatment with azacitidine in VEXAS syndrome with prominent myofasciitis
I Cordts, JS Hecker, D Gauck, J Park, J Härtl… - …, 2022 - academic.oup.com
… (C, D) Right arm at first presentation (C) and after treatment with azacitidine (D). (E, F) Coronal,
T2-weighted (E) and gadolinium-enhanced, fat-suppressed, T1-weighted MRI (F) images …
T2-weighted (E) and gadolinium-enhanced, fat-suppressed, T1-weighted MRI (F) images …
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes
…, I Kienzle, R Buchert, R Falb, D Gauck… - Journal of medical …, 2022 - jmg.bmj.com
Background Human coenzyme Q4 (COQ4) is essential for coenzyme Q 10 (CoQ 10 )
biosynthesis. Pathogenic variants in COQ4 cause childhood-onset neurodegeneration. We aimed …
biosynthesis. Pathogenic variants in COQ4 cause childhood-onset neurodegeneration. We aimed …
Expanded phenotype of AARS1-related white matter disease
…, S Biskup, I Brösse, U Kotzaeridou, D Gauck… - Genetics in …, 2021 - nature.com
… (d) There is progressive cerebral white matter involvement and areas of restricted diffusion
in the affected periventricular white matter in cases with diffusion-weighted imaging obtained …
in the affected periventricular white matter in cases with diffusion-weighted imaging obtained …
A single center experience of prenatal parent‐fetus trio exome sequencing for pregnancies with congenital anomalies
…, AJ Müller, M Grimmel, P Stöbe, D Gauck… - Prenatal …, 2022 - Wiley Online Library
… All pathogenic variants including the de novo nonsense variant in our case are located in
exon 9 of ZNF148. However, as for all ultrarare diseases, a causal relationship between …
exon 9 of ZNF148. However, as for all ultrarare diseases, a causal relationship between …
[HTML][HTML] Recognizable pattern of arthrogryposis and congenital myopathy caused by the recurrent TTN metatranscript-only c. 39974-11T> G splice variant
…, KR Chao, A van Riesen, D Gauck… - …, 2022 - thieme-connect.com
Introduction Arthrogryposis is characterized by the presence of multiple contractures at birth
and can be caused by pathogenic variants in TTN (Titin). Exons and variants that are not …
and can be caused by pathogenic variants in TTN (Titin). Exons and variants that are not …
Open hardware: Towards a fully-wireless sub-cranial neuro-implant for measuring electrocorticography signals
…, T Schellenberg, D Boll, E Tolstosheeva, D Gauck… - bioRxiv, 2016 - biorxiv.org
Implantable invasive neuronal interfaces to the brain are an important keystone for many
interesting future medical applications. However, entering this field of research is difficult since …
interesting future medical applications. However, entering this field of research is difficult since …
[HTML][HTML] Implications for a wireless, external device system to study electrocorticography
…, T Schellenberg, D Boll, E Tolstosheeva, D Gauck… - Sensors, 2017 - mdpi.com
… As a result from our simulations, Figure 7d shows the expected heat-up curves at the surface
of the implant and at different distances within living tissue. The temperature at the surface …
of the implant and at different distances within living tissue. The temperature at the surface …
[BOOK][B] Joachim Gauck: Der richtige Mann?
K Blessing, M Manteuffel - 2013 - books.google.com
… Selbst die bürgerliche Presse kommt zu der Erkenntnis, dass Gauck vorrangig in Worte
verliebt ist: »Joachim Gauck sieht sich nämlich vor allem als der ›Bürger Gauck‹, der jetzt, …
verliebt ist: »Joachim Gauck sieht sich nämlich vor allem als der ›Bürger Gauck‹, der jetzt, …