Johanna Christina Czeschik
Johanna Christina Czeschik
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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
2542013
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
1582013
TNF-α differentially modulates ion channels of nociceptive neurons
JC Czeschik, T Hagenacker, M Schäfers, D Büsselberg
Neuroscience letters 434 (3), 293-298, 2008
1462008
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
762014
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
672013
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), 753-760, 2015
652015
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
642015
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
592013
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
532015
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
522014
German Dermatological Society; Dermatologic Cooperative Oncology Group. Malignant melanoma S3-guideline ‘diagnosis, therapy and follow-up of melanoma’
A Pflugfelder, C Kochs, A Blum, M Capellaro, C Czeschik, T Dettenborn, ...
J Dtsch Dermatol Ges 11 (Suppl 6), 1-116, 2013
52*2013
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), 1-12, 2013
452013
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), 1-12, 2013
452013
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
402010
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
332017
Malignes melanom S3-leitlinie" Diagnostik, therapie und nachsorge des melanoms"
A Pflugfelder, C Kochs, A Blum, M Capellaro, C Czeschik, T Dettenborn, ...
JDDG-Journal of the German Society of Dermatology 11 (SUPPL. 6), 1-126, 2013
262013
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
252013
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 24 (12), 1724-1729, 2016
232016
‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband Syndromes
NC Bramswig, CW Ockeloen, JC Czeschik, AJ van Essen, R Pfundt, ...
Human genetics 134 (10), 1089-1097, 2015
222015
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), 1-14, 2013
222013
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