Haberlandt E - Search Results

1

Homozygosity for MECP2 gene in a girl with classical Rett syndrome.

Karall D, Haberlandt E, Scholl-Bürgi S, Baumgartner S, Naudó M, Martorell L. Karall D, et al. Among authors: haberlandt e. Eur J Med Genet. 2007 Nov-Dec;50(6):465-8. doi: 10.1016/j.ejmg.2007.07.001. Epub 2007 Aug 6. Eur J Med Genet. 2007. PMID: 17881312

2

Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy.

Krabichler B, Rostasy K, Baumann M, Karall D, Scholl-Bürgi S, Schwarzer C, Gautsch K, Spreiz A, Kotzot D, Zschocke J, Fauth C, Haberlandt E. Krabichler B, et al. Among authors: haberlandt e. Ann Hum Genet. 2012 Jul;76(4):326-31. doi: 10.1111/j.1469-1809.2012.00710.x. Epub 2012 May 21. Ann Hum Genet. 2012. PMID: 22606975

3

Del(18)(q12.2q21.1) caused by a paternal sister chromatid rearrangement in a developmentally delayed girl.

Kotzot D, Haberlandt E, Fauth C, Baumgartner S, Scholl-Bürgi S, Utermann G. Kotzot D, et al. Among authors: haberlandt e. Am J Med Genet A. 2005 Jun 15;135(3):304-7. doi: 10.1002/ajmg.a.30727. Am J Med Genet A. 2005. PMID: 15887269 Review.

4

Yellow teeth, seizures, and mental retardation: a less severe case of Kohlschütter-Tönz syndrome.

Haberlandt E, Svejda C, Felber S, Baumgartner S, Günther B, Utermann G, Kotzot D. Haberlandt E, et al. Am J Med Genet A. 2006 Feb 1;140(3):281-3. doi: 10.1002/ajmg.a.31071. Am J Med Genet A. 2006. PMID: 16411202

5

Unrecognized citrullinemia mimicking encephalitis in a 14-year-old boy: unexpected result through the use of a standardized lumbar puncture protocol.

Karall D, Haberlandt E, Albrecht U, Rostasy K, Häberle J, Scholl-Bürgi S. Karall D, et al. Among authors: haberlandt e. Neuropediatrics. 2012 Apr;43(2):59-63. doi: 10.1055/s-0032-1307453. Epub 2012 Apr 3. Neuropediatrics. 2012. PMID: 22473243

6

Glucose transporter type 1 deficiency syndrome effectively treated with modified Atkins diet.

Haberlandt E, Karall D, Jud V, Baumgartner SS, Zotter S, Rostasy K, Baumann M, Scholl-Buergi S. Haberlandt E, et al. Neuropediatrics. 2014 Apr;45(2):117-9. doi: 10.1055/s-0033-1349225. Epub 2013 Jul 25. Neuropediatrics. 2014. PMID: 23888468

7

Mitochondrial DNA mutation "m.3243A>G"-Heterogeneous clinical picture for cardiologists ("m.3243A>G": A phenotypic chameleon).

Niedermayr K, Pölzl G, Scholl-Bürgi S, Fauth C, Schweigmann U, Haberlandt E, Albrecht U, Zlamy M, Sperl W, Mayr JA, Karall D. Niedermayr K, et al. Among authors: haberlandt e. Congenit Heart Dis. 2018 Sep;13(5):671-677. doi: 10.1111/chd.12634. Epub 2018 Aug 21. Congenit Heart Dis. 2018. PMID: 30133155

8

The value of axillary skin electron microscopic analysis in the diagnosis of lysosomal storage disorders.

Zlamy M, Hofstätter J, Albrecht U, Baumgartner S, Haberlandt E, Scholl-Bürgi S, Guntersweiler D, Reinehr M, Mihic-Probst D, Karall D. Zlamy M, et al. Among authors: haberlandt e. Mod Pathol. 2019 Jun;32(6):755-763. doi: 10.1038/s41379-019-0201-4. Epub 2019 Feb 5. Mod Pathol. 2019. PMID: 30723298 Free article.

9

Chromosomal microaberrations in patients with epilepsy, intellectual disability, and congenital anomalies.

Spreiz A, Haberlandt E, Baumann M, Baumgartner Sigl S, Fauth C, Gautsch K, Karall D, Janetschek C, Rostasy K, Scholl-Bürgi S, Zotter S, Utermann G, Zschocke J, Kotzot D. Spreiz A, et al. Among authors: haberlandt e. Clin Genet. 2014 Oct;86(4):361-6. doi: 10.1111/cge.12288. Epub 2013 Oct 28. Clin Genet. 2014. PMID: 24116836

10

Characteristic facial features and cortical blindness distinguish the DOCK7-related epileptic encephalopathy.

Haberlandt E, Valovka T, Janjic T, Müller T, Blatsios G, Karall D, Janecke AR. Haberlandt E, et al. Mol Genet Genomic Med. 2021 Mar;9(3):e1607. doi: 10.1002/mgg3.1607. Epub 2021 Jan 20. Mol Genet Genomic Med. 2021. PMID: 33471954 Free PMC article.

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