Research ExplorerJournalsEUR J MED GENET

EUR J MED GENET - European journal of medical genetics

Bibliographical data

ISSNs1769-7212
Electronic ISSN 1878-0849

Publications

Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 in two new patients with the same homozygous TMCO1 variant and review of the literature
Abdelrazek, I. M., Holling, T., Harms, F. L., Alawi, M., Omar, T., Abdalla, E. & Kutsche, K., 03.2023, In: EUR J MED GENET. 66, 3, p. 104715

Research output: SCORING: Contribution to journal › SCORING: Review article › Research

HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD). A statement from the HTAD working group of VASCERN
Caruana, M., Baars, M. J., Bashiardes, E., Benke, K., Björck, E., Codreanu, A., de Moya Rubio, E., Dumfarth, J., Evangelista, A., Groenink, M., Kallenbach, K., Kempers, M., Keravnou, A., Loeys, B., Muiño-Mosquera, L., Nagy, E., Milleron, O., Nistri, S., Pepe, G., Roos-Hesselink, J., Szabolcs, Z., Teixidó-Tura, G., Timmermans, J., Van de Laar, I., van Kimmenade, R., Verstraeten, A., Von Kodolitsch, Y., De Backer, J. & Jondeau, G., 01.2023, In: EUR J MED GENET. 66, 1, 104673.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Arrhythmia and impaired myocardial function in heritable thoracic aortic disease: An international retrospective cohort study
Demolder, A., Bianco, L., Caruana, M., Cervi, E., Evangelista, A., Jondeau, G., Buttigieg, L. L., López-Sainz, Á., Delmás, E. M., Pini, A., Sabaté-Rotés, A., Szöcs, K., Tchitchinadze, M., Teixidó-Tura, G., von Kodolitsch, Y., Muiño-Mosquera, L. & De Backer, J., 06.2022, In: EUR J MED GENET. 65, 6, 104503.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Advances in genetic, epigenetic and environmental aspects of rare liver diseases
Andersson, E. R. & Lohse, A. W., 02.2022, In: EUR J MED GENET. 65, 2, 104411.

Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research

Rare variants of primary liver cancer: Fibrolamellar, combined, and sarcomatoid hepatocellular carcinomas
Wege, H., Schulze, K., von Felden, J., Calderaro, J., Reig, M. & European Reference Network on Hepatological Diseases (ERN RARE-LIVER), 01.11.2021, In: EUR J MED GENET. 64, 11, 104313.

Research output: SCORING: Contribution to journal › SCORING: Review article › Research

The genetic architecture of primary biliary cholangitis
Gerussi, A., Carbone, M., Corpechot, C., Schramm, C., Asselta, R. & Invernizzi, P., 09.2021, In: EUR J MED GENET. 64, 9, p. 104292

Research output: SCORING: Contribution to journal › SCORING: Review article › Research

TBX3 and TBX5 duplication: A family with an atypical overlapping Holt-Oram/ulnar-mammary syndrome phenotype
Cenni, C., Andres, S., Hempel, M., Strom, T. M., Thomas, E., Davies, A., Timoney, N., Frigiola, A., Logan, M. & Holder-Espinasse, M., 07.2021, In: EUR J MED GENET. 64, 7, 104213.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Genetic aspects of adult and pediatric autoimmune hepatitis: A concise review
Engel, B., Laschtowitz, A., Janik, M. K., Junge, N., Baumann, U., Milkiewicz, P., Taubert, R. & Sebode, M., 06.2021, In: EUR J MED GENET. 64, 6, p. 104214

Research output: SCORING: Contribution to journal › SCORING: Review article › Research

Present and future role of endoscopic retrograde cholangiography in primary sclerosing cholangitis
Waldthaler, A., Schramm, C. & Bergquist, A., 06.2021, In: EUR J MED GENET. 64, 6, p. 104231

Research output: SCORING: Contribution to journal › SCORING: Review article › Research

Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2
Kloth, K., Neu, A., Rau, I., Hülsemann, W., Kutsche, K. & Volk, A. E., 03.2021, In: EUR J MED GENET. 64, 3, 104161.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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