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	1.	The human gamma-aminobutyric acid A receptor delta (GABRD) gene: molecular characterisation and tissue-specific expression. [electronic resource] by Windpassinger, Christian Kroisel, Peter M Wagner, Klaus Petek, Erwin Producer: 20020829 In: Gene vol. 292 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Pitfalls in prenatal and postnatal detection of partial trisomy and tetrasomy 13 by rapid aneuploidy detection. [electronic resource] by Kroisel, Peter M Wagner, Klaus Zierler, Hannelore Petek, Erwin Producer: 20020430 In: Prenatal diagnosis vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Compound heterozygosity (G71R/R140H) in the lecithin:cholesterol acyltransferase (LCAT) gene results in an intermediate phenotype between LCAT-deficiency and fish-eye disease. [electronic resource] by Hörl, Gerd Kroisel, Peter M Wagner, Elke Tiran, Beate Petek, Erwin Steyrer, Ernst Producer: 20070117 In: Atherosclerosis vol. 187 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Molecular characterisation of a 15 Mb constitutional de novo interstitial deletion of chromosome 3p in a boy with developmental delay and congenital anomalies. [electronic resource] by Petek, Erwin Windpassinger, Christian Simma, Burkhard Mueller, Thomas Wagner, Klaus Kroisel, Peter M Producer: 20040224 In: Journal of human genetics vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Williams-Beuren syndrome associated with caudal regression syndrome and coagulopathy--a case report. [electronic resource] by Singer, Georg Schalamon, Johannes Ainoedhofer, Herwig Petek, Erwin Kroisel, Peter M Höllwarth, Michael E Producer: 20060726 In: Journal of pediatric surgery vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing. [electronic resource] by Rath, Matthias Spiegler, Stefanie Strom, Tim M Trenkler, Johannes Kroisel, Peter Michael Felbor, Ute Producer: 20200206 In: American journal of medical genetics. Part A vol. 179 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Fetal nucleated red blood cells in peripheral blood of pregnant women: detection and determination of location on a slide using laser-scanning cytometry. [electronic resource] by Hennerbichler, Simone Kroisel, Peter M Zierler, Hannelore Pertl, Barbara Wintersteiger, Reinhold Dohr, Gottfried Sedlmayr, Peter Producer: 20040129 In: Prenatal diagnosis vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Phenotypic and molecular characterisation of a de novo 5q deletion that includes the APC gene. [electronic resource] by Ofner, Lisa Raedle, Jochen Windpassinger, Christian Schwarzbraun, Thomas Kroisel, Peter M Wagner, Klaus Petek, Erwin Producer: 20061005 In: Journal of human genetics vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Molecular characterization of a 12q22-q24 deletion associated with congenital deafness: confirmation and refinement of the DFNA25 locus. [electronic resource] by Petek, Erwin Windpassinger, Christian Mach, Monika Rauter, Ludwig Scherer, Stephen W Wagner, Klaus Kroisel, Peter M Producer: 20030807 In: American journal of medical genetics. Part A vol. 117A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Community acquired Staphylococcus aureus meningitis and cerebral abscesses in a patient with a hyper-IgE and a Dubowitz-like syndrome. [electronic resource] by Beitzke, Markus Enzinger, Christian Windpassinger, Christian Pfeifer, Dietmar Fazekas, Franz Woellner, Cristina Grimbacher, Bodo Kroisel, Peter Michael Producer: 20120621 In: Journal of the neurological sciences vol. 309 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Targeted enrichment sequencing in two midterm pregnancies with severe abnormalities on ultrasound. [electronic resource] by Kroisel, Peter Michael Häusler, Martin Klaritsch, Philipp Karpf, Eva Zebedin, Doris Tiran, Beate Pertl, Barbara Wagner, Klaus Producer: 20180920 In: Lancet (London, England) vol. 389 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Detection and relocation of cord blood nucleated red blood cells by laser scanning cytometry. [electronic resource] by Hennerbichler, Simone Schmied, Rudolf Petek, Erwin Kroisel, Peter M Pertl, Barbara Tiran, Beate Dohr, Gottfried Wintersteiger, Reinhold Sedlmayr, Peter Producer: 20021203 In: Cytometry vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3' splice site mutations outside the canonical AG-dinucleotides. [electronic resource] by Wimmer, Katharina Schamschula, Esther Wernstedt, Annekatrin Traunfellner, Pia Amberger, Albert Zschocke, Johannes Kroisel, Peter Chen, Yunjia Callens, Tom Messiaen, Ludwine Producer: 20211105 In: Human mutation vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome. [electronic resource] by Runte, Maren Kroisel, Peter M Gillessen-Kaesbach, Gabriele Varon, Raymonda Horn, Denise Cohen, Monika Y Wagstaff, Joseph Horsthemke, Bernhard Buiting, Karin Producer: 20040629 In: Human genetics vol. 114 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes. [electronic resource] by Schwarzbraun, Thomas Ofner, Lisa Gillessen-Kaesbach, Gabriele Schaperdoth, Barbara Preisegger, Karl-Heinz Windpassinger, Christian Wagner, Klaus Petek, Erwin Kroisel, Peter M Producer: 20070508 In: American journal of medical genetics. Part A vol. 143A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	De novo translocation t(5;18)(q33.1;q12.1) associated with autistic disorder. [electronic resource] by Kroisel, Peter M Windpassinger, Christian Wagner, Klaus Petek, Erwin Vincent, John B Scherer, Stephen W Spiel, Georg Artner, Vida Valtiner, Erich Producer: 20050105 In: American journal of medical genetics. Part A vol. 129A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS). [electronic resource] by Schwarzbraun, Thomas Windpassinger, Christian Ofner, Lisa Vincent, John B Cheung, Joseph Scherer, Stephen W Wagner, Klaus Kroisel, Peter M Petek, Erwin Producer: 20060928 In: European journal of medical genetics vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8. [electronic resource] by Varon, Raymonda Müer, Annika Wagner, Klaus Zierler, Hannelore Sodia, Sigrun Rauter, Ludwig Petek, Erwin Tönnies, Holger Neitzel, Haidemarie Sperling, Karl Kroisel, Peter M Producer: 20070326 In: American journal of medical genetics. Part A vol. 143A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue. [electronic resource] by Schwarzbraun, Thomas Vincent, John B Schumacher, Axel Geschwind, Daniel H Oliveira, Joao Windpassinger, Christian Ofner, Lisa Ledinegg, Michael K Kroisel, Peter M Wagner, Klaus Petek, Erwin Producer: 20050124 In: Genomics vol. 84 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18q. [electronic resource] by Vincent, John B Noor, Abdul Windpassinger, Christian Gianakopoulos, Peter J Schwarzbraun, Thomas Alfred, Simon E Stachowiak, Beata Scherer, Stephen W Roberts, Wendy Wagner, Klaus Kroisel, Peter M Petek, Erwin Producer: 20091123 In: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics vol. 150B Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 36 results.