Research ExplorerJournalsMOL SYNDROMOL

MOL SYNDROMOL - Molecular Syndromology

Bibliographical data

ISSNs1661-8769
Electronic ISSN 1661-8777

Publications

Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report
van der Ven, A. T., Shril, S., Ityel, H., Vivante, A., Chen, J., Hwang, D-Y., Laricchia, K. M., Lek, M., Tasic, V. & Hildebrandt, F., 08.2017, In: MOL SYNDROMOL. 8, 5, p. 272-277 6 p.

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

Evidence of Germline Mosaicism for a Novel BCOR Mutation in Two Indian Sisters with Oculo-Facio-Cardio-Dental Syndrome
Danda, S., van Rahden, V. A., John, D., Paul, P., Raju, R., Koshy, S. & Kutsche, K., 01.08.2014, In: MOL SYNDROMOL. 5, 5, p. 251-6 6 p.

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

CCM3 Mutations Are Associated with Early-Onset Cerebral Hemorrhage and Multiple Meningiomas
Riant, F., Bergametti, F., Fournier, H-D., Chapon, F., Michalak-Provost, S., Cecillon, M., Lejeune, P., Hosseini, H., Choe, C., Orth, M., Bernreuther, C., Boulday, G., Denier, C., Labauge, P. & Tournier-Lasserve, E., 01.04.2013, In: MOL SYNDROMOL. 4, 4, p. 165-72 8 p.

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

Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies.
Kortüm, F., Chyrek, M., Fuchs, S., Albrecht, B., Gillessen-Kaesbach, G., Mütze, U., Seemanova, E., Tinschert, S., Wieczorek, D., Rosenberger, G. & Kutsche, K., 2011, In: MOL SYNDROMOL. 2, 1, p. 27-34 1.

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

A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features.
Saha, B., Lessel, D., Hisama, F. M., Leistritz, D. F., Friedrich, K., Martin, G. M., Kubisch, C. & Oshima, J., 2010, In: MOL SYNDROMOL. 1, 3, p. 127-132 3.

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

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