Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?
Shoukier, M, Klein, N, Auber, B, Wickert, J, Schröder, J, Zoll, B, Burfeind, P, Bartels, I, Alsat, EA, Lingen, M, Grzmil, P, Schulze, S, Keyser, J, Weise, D, Borchers, M, Hobbiebrunken, E, Röbl, M, Gärtner, J, Brockmann, K, Zirn, B
Published in Clinical genetics (01.01.2013)
Published in Clinical genetics (01.01.2013)
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Journal Article
A Family with an Inverted Tandem Duplication 5q22.1q23.2
Schmidt, T., Bartels, I., Liehr, T., Burfeind, P., Zoll, B., Shoukier, M.
Published in Cytogenetic and genome research (01.01.2013)
Published in Cytogenetic and genome research (01.01.2013)
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Journal Article
Branchio-Otic Syndrome Caused by a Genomic Rearrangement: Clinical Findings and Molecular Cytogenetic Studies in a Patient with a Pericentric Inversion of Chromosome 8
Schmidt, T., Bierhals, T., Kortüm, F., Bartels, I., Liehr, T., Burfeind, P., Shoukier, M., Frank, V., Bergmann, C., Kutsche, K.
Published in Cytogenetic and genome research (01.01.2014)
Published in Cytogenetic and genome research (01.01.2014)
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Journal Article
Mucocutaneous telangiectasia - it's the tip of the iceberg
Böckle, B.C., Shoukier, M., Kaulfuß, S., Sepp, N.T.
Published in Journal of the European Academy of Dermatology and Venereology (01.03.2013)
Published in Journal of the European Academy of Dermatology and Venereology (01.03.2013)
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Journal Article
An unbalanced translocation resulting in a duplication of Xq28 causes a Rett syndrome-like phenotype in a female patient
Auber, B, Burfeind, P, Thiels, C, Alsat, EA, Shoukier, M, Liehr, T, Nelle, H, Bartels, I, Salinas-Riester, G, Laccone, F
Published in Clinical genetics (01.06.2010)
Published in Clinical genetics (01.06.2010)
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Journal Article
A newborn with hereditary haemorrhagic telangiectasia and an unusually severe phenotype
Argyriou, L, Wirbelauer, J, Dev, A, Panchulidze, I, Shoukier, M, Teske, U, Nayernia, K
Published in Swiss medical weekly (26.07.2008)
Published in Swiss medical weekly (26.07.2008)
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Journal Article
The transcription factor Bcl11b promotes both canonical and adaptive NK cell differentiation
Holmes, Tim D, Pandey, Ram Vinay, Helm, Eric Y, Schlums, Heinrich, Han, Hongya, Campbell, Tessa M, Drashansky, Theodore T, Chiang, Samuel, Wu, Cheng-Ying, Tao, Christine, Shoukier, Moneef, Tolosa, Eva, Von Hardenberg, Sandra, Sun, Miao, Klemann, Christian, Marsh, Rebecca A, Lau, Colleen M, Lin, Yin, Sun, Joseph C, Månsson, Robert, Cichocki, Frank, Avram, Dorina, Bryceson, Yenan T
Published in Science immunology (12.03.2021)
Published in Science immunology (12.03.2021)
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Journal Article
A familial epilepsy with behavioural features associated with a PCDH19 mutation
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Conference Proceeding
Microduplication of 3p26.3 in nonsyndromic intellectual disability indicates an important role of CHL1 for normal cognitive function
Shoukier, Moneef, Fuchs, Sigrid, Schwaibold, Eva, Lingen, Michael, Gärtner, Jutta, Brockmann, Knut, Zirn, Birgit
Published in Neuropediatrics (01.10.2013)
Published in Neuropediatrics (01.10.2013)
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Journal Article
Ring chromosome 22 and neurofibromatosis type II: proof of two hit model for the loss of the NF2 gene in the development of meningioma
Zirn, B, Arning, L, Bartels, I, Shoukier, M, Hoffjan, S, Neubauer, B, Hahn, A
Published in Neuropediatrics (03.04.2012)
Published in Neuropediatrics (03.04.2012)
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Conference Proceeding
A 3p interstitial deletion in two monozygotic twin brothers and an 18-year-old man: Further characterization and review
Maria Christina Schwaibold, Eva, Zoll, Barbara, Burfeind, Peter, Hobbiebrunken, Elke, Wilken, Bernd, Funke, Rudolf, Shoukier, Moneef
Published in American journal of medical genetics. Part A (01.10.2013)
Published in American journal of medical genetics. Part A (01.10.2013)
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Journal Article
FMR2 gene deletion as a cause of non-specific mental retardation and autistic behavior in two brothers
Stettner, GM, Auber, B, Shoukier, M, Höger, C, Brockmann, K
Published in Neuropediatrics (26.08.2010)
Published in Neuropediatrics (26.08.2010)
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Conference Proceeding
Stellenwert der ACGH bei Feten mit schwerer intrauteriner Wachstumsretardierung (IUWR)
Gloning, V, Shoukier, M, Daumer-Haas, C, Bagowski, C, Minderer, S, Schramm, T, Gloning, KP
Published in Geburtshilfe und Frauenheilkunde (03.07.2015)
Published in Geburtshilfe und Frauenheilkunde (03.07.2015)
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Journal Article