Johanna Christina Czeschik
Johanna Christina Czeschik
Serapion Beratung & Fachredaktion
Bestätigte E-Mail-Adresse bei serapion.de - Startseite
Titel
Zitiert von
Zitiert von
Jahr
Malignant Melanoma S3‐Guideline “Diagnosis, Therapy and Follow‐up of Melanoma”
A Pflugfelder, C Kochs, A Blum, M Capellaro, C Czeschik, T Dettenborn, ...
JDDG: Journal der Deutschen Dermatologischen Gesellschaft 11 (s6), 1-116, 2013
2262013
TNF-α differentially modulates ion channels of nociceptive neurons
JC Czeschik, T Hagenacker, M Schäfers, D Büsselberg
Neuroscience letters 434 (3), 293-298, 2008
1412008
A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling
D Wieczorek, N Bögershausen, F Beleggia, S Steiner-Haldenstätt, E Pohl, ...
Human molecular genetics 22 (25), 5121-5135, 2013
1262013
Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases
D Smedley, S Köhler, JC Czeschik, J Amberger, C Bocchini, A Hamosh, ...
Bioinformatics 30 (22), 3215-3222, 2014
632014
Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome
JC Czeschik, C Voigt, Y Alanay, B Albrecht, S Avci, D Fitzpatrick, ...
Human genetics 132 (8), 885-898, 2013
602013
S3‐Guideline “Diagnosis, therapy and follow‐up of melanoma”–short version
A Pflugfelder, C Kochs, A Blum, M Capellaro, C Czeschik, T Dettenborn, ...
JDDG: Journal der Deutschen Dermatologischen Gesellschaft 11 (6), 563-602, 2013
532013
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25. 3 syndrome
A Kuechler, AM Zink, T Wieland, HJ Lüdecke, K Cremer, L Salviati, ...
European Journal of Human Genetics 23 (6), 753, 2015
522015
German Dermatological Society; Dermatologic Cooperative Oncology Group
A Pflugfelder, C Kochs, A Blum, M Capellaro, C Czeschik, T Dettenborn, ...
Malignant melanoma S3-guideline ‘Diagnosis, Therapy and Follow-up of …, 2013
51*2013
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes
NC Bramswig, HJ Lüdecke, Y Alanay, B Albrecht, A Barthelmie, ...
Human genetics 134 (6), 553-568, 2015
482015
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum
A Kuechler, MH Willemsen, B Albrecht, CA Bacino, DW Bartholomew, ...
Human genetics 134 (1), 97-109, 2015
472015
Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome
D Wieczorek, WG Newman, T Wieland, T Berulava, M Kaffe, ...
The American Journal of Human Genetics 95 (6), 698-707, 2014
442014
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies-expanding the phenotypes associated with EFTUD2 mutations
C Voigt, A Mégarbané, K Neveling, JC Czeschik, B Albrecht, B Callewaert, ...
Orphanet journal of rare diseases 8 (1), 110, 2013
382013
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies-expanding the phenotypes associated with EFTUD2 mutations
C Voigt, A Mégarbané, K Neveling, JC Czeschik, B Albrecht, B Callewaert, ...
Orphanet journal of rare diseases 8 (1), 110, 2013
382013
Sensitization of voltage activated calcium channel currents for capsaicin in nociceptive neurons by tumor-necrosis-factor-α
T Hagenacker, JC Czeschik, M Schäfers, D Büsselberg
Brain research bulletin 81 (1), 157-163, 2010
362010
Malignes Melanom S3‐Leitlinie “Diagnostik, Therapie und Nachsorge des Melanoms”
A Pflugfelder, C Kochs, A Blum, M Capellaro, C Czeschik, T Dettenborn, ...
JDDG: Journal der Deutschen Dermatologischen Gesellschaft 11 (s6), 1-126, 2013
252013
Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9
JC Czeschik, C Voigt, TO Goecke, HJ Lüdecke, N Wagner, A Kuechler, ...
American Journal of Medical Genetics Part A 161 (2), 295-300, 2013
242013
Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition
A Kuechler, JC Czeschik, E Graf, U Grasshoff, U Hüffmeier, T Busa, ...
European Journal of Human Genetics 25 (2), 183-191, 2017
232017
Novel microdeletions on chromosome 14q32. 2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome
IM van der Werf, K Buiting, C Czeschik, E Reyniers, G Vandeweyer, ...
European journal of human genetics/European Society of Human Genetics …, 2016
192016
Clinical interpretation of CNVs with cross-species phenotype data
S Köhler, U Schoeneberg, JC Czeschik, SC Doelken, JY Hehir-Kwa, ...
Journal of medical genetics 51 (11), 766-772, 2014
192014
X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity
JC Czeschik, P Bauer, K Buiting, C Dufke, E Guillén-Navarro, DS Johnson, ...
Orphanet journal of rare diseases 8 (1), 146, 2013
192013
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