Johanna Christina Czeschik
Johanna Christina Czeschik
Serapion Beratung & Fachredaktion
Bestätigte E-Mail-Adresse bei serapion.de - Startseite
TitelZitiert vonJahr
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
2002013
TNF-α differentially modulates ion channels of nociceptive neurons
JC Czeschik, T Hagenacker, M Schäfers, D Büsselberg
Neuroscience letters 434 (3), 293-298, 2008
1262008
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
992013
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
502014
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
502013
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
482013
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
46*2013
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
382015
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
362015
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
342014
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
342010
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
332015
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
292013
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
292013
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
222013
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
202013
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
172017
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
172014
‘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
132015
160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker–Warburg syndrome
JC Czeschik, U Hehr, B Hartmann, HJ Lüdecke, T Rosenbaum, ...
European journal of medical genetics 56 (12), 689-694, 2013
122013
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