Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

78 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Intrafamilial phenotypic variability in autosomal recessive DOCK6-related Adams-Oliver syndrome.
Zepeda-Romero LC, Zenker M, Schanze D, Schanze I, Peña-Padilla C, Quezada-Salazar CA, Pacheco-Torres PA, Rivera-Montellano ML, Aguirre-Guillén RL, Bobadilla-Morales L, Corona-Rivera A, Corona-Rivera JR. Zepeda-Romero LC, et al. Among authors: schanze d, schanze i. Eur J Med Genet. 2022 Dec;65(12):104653. doi: 10.1016/j.ejmg.2022.104653. Epub 2022 Oct 28. Eur J Med Genet. 2022. PMID: 36330903
Insulin-signaling abnormalities in drug-naïve first-episode schizophrenia: Transduction protein analyses in extracellular vesicles of putative neuronal origin.
Kapogiannis D, Dobrowolny H, Tran J, Mustapic M, Frodl T, Meyer-Lotz G, Schiltz K, Schanze D, Rietschel M, Bernstein HG, Steiner J. Kapogiannis D, et al. Among authors: schanze d. Eur Psychiatry. 2019 Oct;62:124-129. doi: 10.1016/j.eurpsy.2019.08.012. Epub 2019 Oct 4. Eur Psychiatry. 2019. PMID: 31590015 Free PMC article.
Requirements Analysis and Specification for a Molecular Tumor Board Platform Based on cBioPortal.
Buechner P, Hinderer M, Unberath P, Metzger P, Boeker M, Acker T, Haller F, Mack E, Nowak D, Paret C, Schanze D, von Bubnoff N, Wagner S, Busch H, Boerries M, Christoph J. Buechner P, et al. Among authors: schanze d. Diagnostics (Basel). 2020 Feb 10;10(2):93. doi: 10.3390/diagnostics10020093. Diagnostics (Basel). 2020. PMID: 32050609 Free PMC article.
Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.
Slavotinek AM, Baranzini SE, Schanze D, Labelle-Dumais C, Short KM, Chao R, Yahyavi M, Bijlsma EK, Chu C, Musone S, Wheatley A, Kwok PY, Marles S, Fryns JP, Maga AM, Hassan MG, Gould DB, Madireddy L, Li C, Cox TC, Smyth I, Chudley AE, Zenker M. Slavotinek AM, et al. Among authors: schanze d. J Med Genet. 2011 Jun;48(6):375-82. doi: 10.1136/jmg.2011.089631. Epub 2011 Apr 20. J Med Genet. 2011. PMID: 21507892 Free PMC article.
Mutations in GRIP1 cause Fraser syndrome.
Vogel MJ, van Zon P, Brueton L, Gijzen M, van Tuil MC, Cox P, Schanze D, Kariminejad A, Ghaderi-Sohi S, Blair E, Zenker M, Scambler PJ, Ploos van Amstel HK, van Haelst MM. Vogel MJ, et al. Among authors: schanze d. J Med Genet. 2012 May;49(5):303-6. doi: 10.1136/jmedgenet-2011-100590. Epub 2012 Apr 17. J Med Genet. 2012. PMID: 22510445
Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome.
Schanze D, Neubauer D, Cormier-Daire V, Delrue MA, Dieux-Coeslier A, Hasegawa T, Holmberg EE, Koenig R, Krueger G, Schanze I, Seemanova E, Shaw AC, Vogt J, Volleth M, Reis A, Meinecke P, Hennekam RC, Zenker M. Schanze D, et al. Among authors: schanze i. Hum Mutat. 2014 Sep;35(9):1092-100. doi: 10.1002/humu.22603. Epub 2014 Jul 8. Hum Mutat. 2014. PMID: 24924640
78 results