Zschocke, Johannes

The 2017 international classification of the Ehlers–Danlos syndromes

Malfait, F., Francomano, C., Byers, P., Belmont, J., Berglund, B., Black, J., Bloom, L., Bowen, J. M., Brady, A. F., Burrows, N. P., et al. (2017) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 1,936

The Ehlers–Danlos syndromes, rare types

Brady, A. F., Demirdas, S., Fournel‐Gigleux, S., Ghali, N., Giunta, C., Kapferer‐Seebacher, I., Kosho, T., Mendoza‐Londono, R., Pope, M. F., Rohrbach, M., et al. (2017) · American Journal of Medical Genetics Part C Seminars in Medical Genetics

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 258

Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

Baumann, M., Giunta, C., Krabichler, B., Rüschendorf, F., Zoppi, N., Colombi, M., Bittner, R. E., Quijano-Roy, S., Muntoni, F., Cirak, S., et al. (2012) · The American Journal of Human Genetics

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 162

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S , which Encode Subcomponents C1r and C1s of Complement

Kapferer-Seebacher, I., Pepin, M., Werner, R., Aitman, T. J., Nordgren, A., Stoiber, H., Thielens, N., Gaboriaud, C., Amberger, A., Schossig, A., et al. (2016) · The American Journal of Human Genetics

Complement system in diseasesOral microbiology and periodontitis research

Cited by 123

Recurrent miscarriage: diagnostic and therapeutic procedures. Guideline of the DGGG, OEGGG and SGGG (S2k-Level, AWMF Registry Number 015/050)

Toth, B., Würfel, W., Bohlmann, M., Zschocke, J., Rudnik-Schöneborn, S., Nawroth, F., Schleußner, E., Rogenhofer, N., Wischmann, T., von Wolff, M., et al. (2018) · Geburtshilfe und Frauenheilkunde

Reproductive System and PregnancyReproductive Health and Technologies

Cited by 119

Abnormal myelination in Angelman syndrome

Harting, I., Seitz, A., Rating, D., Sartor, K., Zschocke, J., Janssen, B., Ebinger, F., & Wolf, N. I. (2009) · European Journal of Paediatric Neurology

Genetic Syndromes and ImprintingGenomic variations and chromosomal abnormalities

Cited by 58

C1R mutations trigger constitutive complement 1 activation in periodontal Ehlers-Danlos syndrome

Gröbner, R., Kapferer-Seebacher, I., Amberger, A., Redolfi, R., Dalonneau, F., Björck, E., Milnes, D., Bally, I., Rossi, V., Thielens, N., et al. (2019) · Frontiers in Immunology

Complement system in diseasesCoagulation, Bradykinin, Polyphosphates, and Angioedema

Cited by 35

Dominant versus recessive: Molecular mechanisms in metabolic disease

Zschocke, J. (2008) · Journal of Inherited Metabolic Disease

Metabolism and Genetic DisordersGenomics and Rare Diseases

Cited by 33

Dental Management of Genetic Dental Disorders: A Critical Review

Dujic, H., Bücher, K., Schüler, I. M., Schmidt, P., Hertel, S., Timpel, J., Jablonski-Momeni, A., Schilke, R., Kapferer-Seebacher, I., Zschocke, J., et al. (2025) · Journal of Dental Research

dental development and anomaliesBone and Dental Protein Studies

Cited by 9