Expanded mutational spectrum in cohen syndrome, tissue expression, and transcript variants of COH1

W Seifert; M Holder-Espinasse; J Kuhnisch; K Kahrizi; A Tzschach; M Garhasbi; H Najmabadi; A Walter Kuss; W Kress; G Laureys; B Loeys; E Brilstra; Grazia Verheijen - Mancini; H Dollfus; K Dahan; K Apse; H Christian Hennies; D Horn

Expanded mutational spectrum in cohen syndrome, tissue expression, and transcript variants of COH1

W Seifert, M Holder-Espinasse, J Kuhnisch, K Kahrizi, A Tzschach, M Garhasbi, H Najmabadi, A Walter Kuss, W Kress, G Laureys, B Loeys, E Brilstra, Grazia Verheijen - Mancini, H Dollfus, K Dahan, K Apse, H Christian Hennies, D Horn

Research output: Contribution to journal › Article › Academic › peer-review

37 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	E404-E420
Journal	Human Mutation
Publication status	Published - 2009

Cite this

Seifert, W., Holder-Espinasse, M., Kuhnisch, J., Kahrizi, K., Tzschach, A., Garhasbi, M., Najmabadi, H., Walter Kuss, A., Kress, W., Laureys, G., Loeys, B., Brilstra, E., Verheijen - Mancini, G., Dollfus, H., Dahan, K., Apse, K., Christian Hennies, H., & Horn, D. (2009). Expanded mutational spectrum in cohen syndrome, tissue expression, and transcript variants of COH1. Human Mutation, E404-E420.

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title = "Expanded mutational spectrum in cohen syndrome, tissue expression, and transcript variants of COH1",

author = "W Seifert and M Holder-Espinasse and J Kuhnisch and K Kahrizi and A Tzschach and M Garhasbi and H Najmabadi and {Walter Kuss}, A and W Kress and G Laureys and B Loeys and E Brilstra and {Verheijen - Mancini}, Grazia and H Dollfus and K Dahan and K Apse and {Christian Hennies}, H and D Horn",

year = "2009",

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journal = "Human Mutation",

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Seifert, W, Holder-Espinasse, M, Kuhnisch, J, Kahrizi, K, Tzschach, A, Garhasbi, M, Najmabadi, H, Walter Kuss, A, Kress, W, Laureys, G, Loeys, B, Brilstra, E, Verheijen - Mancini, G, Dollfus, H, Dahan, K, Apse, K, Christian Hennies, H & Horn, D 2009, 'Expanded mutational spectrum in cohen syndrome, tissue expression, and transcript variants of COH1', Human Mutation, pp. E404-E420.

TY - JOUR

T1 - Expanded mutational spectrum in cohen syndrome, tissue expression, and transcript variants of COH1

AU - Seifert, W

AU - Holder-Espinasse, M

AU - Kuhnisch, J

AU - Kahrizi, K

AU - Tzschach, A

AU - Garhasbi, M

AU - Najmabadi, H

AU - Walter Kuss, A

AU - Kress, W

AU - Laureys, G

AU - Loeys, B

AU - Brilstra, E

AU - Verheijen - Mancini, Grazia

AU - Dollfus, H

AU - Dahan, K

AU - Apse, K

AU - Christian Hennies, H

AU - Horn, D

PY - 2009

Y1 - 2009

M3 - Article

SN - 1059-7794

SP - E404-E420

JO - Human Mutation

JF - Human Mutation

ER -