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Cohesin complex-associated holoprosencephaly.
Kruszka P, Berger SI, Casa V, Dekker MR, Gaesser J, Weiss K, Martinez AF, Murdock DR, Louie RJ, Prijoles EJ, Lichty AW, Brouwer OF, Zonneveld-Huijssoon E, Stephan MJ, Hogue J, Hu P, Tanima-Nagai M, Everson JL, Prasad C, Cereda A, Iascone M, Schreiber A, Zurcher V, Corsten-Janssen N, Escobar L, Clegg NJ, Delgado MR, Hajirnis O, Balasubramanian M, Kayserili H, Deardorff M, Poot RA, Wendt KS, Lipinski RJ, Muenke M. Kruszka P, et al. Among authors: lipinski rj. Brain. 2019 Sep 1;142(9):2631-2643. doi: 10.1093/brain/awz210. Brain. 2019. PMID: 31334757 Free PMC article.
Human germline hedgehog pathway mutations predispose to fatty liver.
Guillen-Sacoto MJ, Martinez AF, Abe Y, Kruszka P, Weiss K, Everson JL, Bataller R, Kleiner DE, Ward JM, Sulik KK, Lipinski RJ, Solomon BD, Muenke M. Guillen-Sacoto MJ, et al. Among authors: lipinski rj. J Hepatol. 2017 Oct;67(4):809-817. doi: 10.1016/j.jhep.2017.06.008. Epub 2017 Jun 21. J Hepatol. 2017. PMID: 28645738 Free PMC article.
Common basis for orofacial clefting and cortical interneuronopathy.
Ansen-Wilson LJ, Everson JL, Fink DM, Kietzman HW, Sullivan R, Lipinski RJ. Ansen-Wilson LJ, et al. Among authors: lipinski rj. Transl Psychiatry. 2018 Jan 10;8(1):8. doi: 10.1038/s41398-017-0057-7. Transl Psychiatry. 2018. PMID: 29317601 Free PMC article.
55 results