Liehr T - Search Results

1

European registration process for Clinical Laboratory Geneticists in genetic healthcare.

Liehr T, Carreira IM, Aktas D, Bakker E, Rodríguez de Alba M, Coviello DA, Florentin L, Scheffer H, Rincic M. Liehr T, et al. Eur J Hum Genet. 2017 May;25(5):515-519. doi: 10.1038/ejhg.2017.25. Epub 2017 Mar 8. Eur J Hum Genet. 2017. PMID: 28272535 Free PMC article.

2

Ring chromosome 4 and Wolf-Hirschhorn syndrome (WHS) in a child with multiple anomalies.

Balci S, Engiz O, Aktaş D, Vargel I, Beksaç MS, Mrasek K, Vermeesch J, Liehr T. Balci S, et al. Among authors: liehr t. Am J Med Genet A. 2006 Mar 15;140(6):628-32. doi: 10.1002/ajmg.a.31131. Am J Med Genet A. 2006. PMID: 16470698

3

Bilateral periventricular nodular heterotopia, severe learning disability, and epilepsy in a male patient with 46,XY,der(19)t(X;19) (q11.1-11.2;p13.3).

Balci S, Unal A, Engiz O, Aktas D, Liehr T, Gross M, Mrasek K, Saygi S. Balci S, et al. Among authors: liehr t. Dev Med Child Neurol. 2007 Mar;49(3):219-24. doi: 10.1111/j.1469-8749.2007.00219.x. Dev Med Child Neurol. 2007. PMID: 17355480 Free article.

4

Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report.

Aktas D, Weise A, Utine E, Alehan D, Mrasek K, von Eggeling F, Thieme H, Tuncbilek E, Liehr T. Aktas D, et al. Among authors: liehr t. Mol Cytogenet. 2009 Jun 30;2:14. doi: 10.1186/1755-8166-2-14. Mol Cytogenet. 2009. PMID: 19566937 Free PMC article.

5

Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia.

Uz E, Alanay Y, Aktas D, Vargel I, Gucer S, Tuncbilek G, von Eggeling F, Yilmaz E, Deren O, Posorski N, Ozdag H, Liehr T, Balci S, Alikasifoglu M, Wollnik B, Akarsu NA. Uz E, et al. Among authors: liehr t. Am J Hum Genet. 2010 May 14;86(5):789-96. doi: 10.1016/j.ajhg.2010.04.002. Epub 2010 May 6. Am J Hum Genet. 2010. PMID: 20451171 Free PMC article.

6

Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair.

Aktas D, Utine EG, Mrasek K, Weise A, von Eggeling F, Yalaz K, Posorski N, Akarsu N, Alikasifoglu M, Liehr T, Tuncbilek E. Aktas D, et al. Among authors: liehr t. Mol Cytogenet. 2010 May 28;3(1):10. doi: 10.1186/1755-8166-3-10. Mol Cytogenet. 2010. PMID: 20509907 Free PMC article.

7

X-chromosome terminal deletion in a female with premature ovarian failure: Haploinsufficiency of X-linked genes as a possible explanation.

Ferreira SI, Matoso E, Pinto M, Almeida J, Liehr T, Melo JB, Carreira IM. Ferreira SI, et al. Among authors: liehr t. Mol Cytogenet. 2010 Jul 20;3:14. doi: 10.1186/1755-8166-3-14. Mol Cytogenet. 2010. PMID: 20646274 Free PMC article.

8

Chromosome 5 derived small supernumerary marker: towards a genotype/phenotype correlation of proximal chromosome 5 imbalances.

Melo JB, Backx L, Vermeesch JR, Santos HG, Sousa AC, Kosyakova N, Weise A, von Eggeling F, Liehr T, Carreira IM. Melo JB, et al. Among authors: liehr t. J Appl Genet. 2011 May;52(2):193-200. doi: 10.1007/s13353-011-0035-3. Epub 2011 Mar 25. J Appl Genet. 2011. PMID: 21437654 Review.

9

A Novel Cryptic Three-Way Translocation t(2;9;18)(p23.2;p21.3;q21.33) with Deletion of Tumor Suppressor Genes in 9p21.3 and 13q14 in a T-Cell Acute Lymphoblastic Leukemia.

Othman MA, Rincic M, Melo JB, Carreira IM, Alhourani E, Hunstig F, Glaser A, Liehr T. Othman MA, et al. Among authors: liehr t. Leuk Res Treatment. 2014;2014:357123. doi: 10.1155/2014/357123. Epub 2014 Oct 8. Leuk Res Treatment. 2014. PMID: 25374696 Free PMC article.

10

MLLT10 and IL3 rearrangement together with a complex four-way translocation and trisomy 4 in a patient with early T-cell precursor acute lymphoblastic leukemia: A case report.

Othman MA, Melo JB, Carreira IM, Rincic M, Alhourani E, Wilhelm K, Gruhn B, Glaser A, Liehr T. Othman MA, et al. Among authors: liehr t. Oncol Rep. 2015 Feb;33(2):625-30. doi: 10.3892/or.2014.3624. Epub 2014 Nov 25. Oncol Rep. 2015. PMID: 25435396

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