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	1.	Molecular cloning and analysis of breakpoints on ring chromosome 17 in a patient with autism. [electronic resource] by Vazna, Alzbeta Havlovicova, Marketa Sedlacek, Zdenek Producer: 20080320 In: Gene vol. 407 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	A rare tumor and an ethical dilemma in a family with a germline TP53 mutation. [electronic resource] by Prochazkova, Kamila Foretova, Lenka Sedlacek, Zdenek Producer: 20080226 In: Cancer genetics and cytogenetics vol. 180 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Increased sperm aneuploidy in two male carriers of germline TP53 mutations. [electronic resource] by Paulasova, Petra Diblik, Jan Trkova, Marie Macek, Milan Sedlacek, Zdenek Producer: 20110815 In: Cancer genetics vol. 204 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Molecular and clinical characterization of two patients with Prader-Willi syndrome and atypical deletions of proximal chromosome 15q. [electronic resource] by Calounova, Gabriela Hedvicakova, Petra Silhanova, Eva Kreckova, Gabriela Sedlacek, Zdenek Producer: 20080819 In: American journal of medical genetics. Part A vol. 146A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Is there anticipation in the age at onset of cancer in families with Li-Fraumeni syndrome? [electronic resource] by Trkova, Marie Hladikova, Marie Kasal, Pavel Goetz, Petr Sedlacek, Zdenek Producer: 20021009 In: Journal of human genetics vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Telomere length in peripheral blood cells of germline TP53 mutation carriers is shorter than that of normal individuals of corresponding age. [electronic resource] by Trkova, Marie Prochazkova, Kamila Krutilkova, Vera Sumerauer, David Sedlacek, Zdenek Producer: 20071206 In: Cancer vol. 110 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	A Li-Fraumeni syndrome family with retained heterozygosity for a germline TP53 mutation in two tumors. [electronic resource] by Trkova, Marie Foretova, Lenka Kodet, Roman Hedvicakova, Petra Sedlacek, Zdenek Producer: 20030821 In: Cancer genetics and cytogenetics vol. 145 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Somatic TP53 mutation mosaicism in a patient with Li-Fraumeni syndrome. [electronic resource] by Prochazkova, Kamila Pavlikova, Kristyna Minarik, Marek Sumerauer, David Kodet, Roman Sedlacek, Zdenek Producer: 20090406 In: American journal of medical genetics. Part A vol. 149A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Odor detection threshold, but not odor identification, is impaired in children with autism. [electronic resource] by Dudova, Iva Vodicka, Jan Havlovicova, Marketa Sedlacek, Zdenek Urbanek, Tomas Hrdlicka, Michal Producer: 20111115 In: European child & adolescent psychiatry vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report. [electronic resource] by Prchalova, Darina Havlovicova, Marketa Sterbova, Katalin Stranecky, Viktor Hancarova, Miroslava Sedlacek, Zdenek Producer: 20170803 In: BMC medical genetics vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Association of 17q24.2-q24.3 deletions with recognizable phenotype and short telomeres. [electronic resource] by Hancarova, Miroslava Malikova, Marcela Kotrova, Michaela Drabova, Jana Trkova, Marie Sedlacek, Zdenek Producer: 20190521 In: American journal of medical genetics. Part A vol. 176 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Deletions of 9q21.3 including NTRK2 are associated with severe phenotype. [electronic resource] by Hancarova, Miroslava Puchmajerova, Alena Drabova, Jana Karaskova, Eliska Vlckova, Marketa Sedlacek, Zdenek Producer: 20150521 In: American journal of medical genetics. Part A vol. 167A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	The TP53 gene promoter is not methylated in families suggestive of Li-Fraumeni syndrome with no germline TP53 mutations. [electronic resource] by Finkova, Alena Vazna, Alzbeta Hrachovina, Ondrej Bendova, Sarka Prochazkova, Kamila Sedlacek, Zdenek Producer: 20090727 In: Cancer genetics and cytogenetics vol. 193 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	A patient with de novo 0.45 Mb deletion of 2p16.1: the role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome. [electronic resource] by Hancarova, Miroslava Simandlova, Martina Drabova, Jana Mannik, Katrin Kurg, Ants Sedlacek, Zdenek Producer: 20130909 In: American journal of medical genetics. Part A vol. 161A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15. [electronic resource] by Hancarova, Miroslava Vejvalkova, Sarka Trkova, Marie Drabova, Jana Dleskova, Alzbeta Vlckova, Marketa Sedlacek, Zdenek Producer: 20130325 In: Gene vol. 516 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplications. [electronic resource] by Drabova, Jana Trkova, Marie Hancarova, Miroslava Novotna, Drahuse Hejtmankova, Michaela Havlovicova, Marketa Sedlacek, Zdenek Producer: 20141121 In: Molecular cytogenetics vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Parental gonadal but not somatic mosaicism leading to de novo NFIX variants shared by two brothers with Malan syndrome. [electronic resource] by Hancarova, Miroslava Havlovicova, Marketa Putzova, Martina Vseticka, Jan Prchalova, Darina Stranecky, Viktor Sedlacek, Zdenek Producer: 20200803 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)
	18.	Chromosome 12q13.13 deletions involving the HOXC gene cluster: phenotype and candidate genes. [electronic resource] by Hancarova, Miroslava Simandlova, Martina Drabova, Jana Petrak, Borivoj Koudova, Monika Havlovicova, Marketa Sedlacek, Zdenek Producer: 20130812 In: European journal of medical genetics vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Prader-Willi syndrome due to uniparental disomy in a patient with a balanced chromosomal translocation. [electronic resource] by Calounova, Gabriela Novotna, Drahuse Simandlova, Martina Havlovicova, Markéta Zumrová, Alena Kocarek, Eduard Sedlacek, Zdenek Producer: 20070319 In: Neuro endocrinology letters vol. 27 Availability: No items available. Save to lists Add to cart (remove)
	20.	Hypophosphatasia due to uniparental disomy. [electronic resource] by Hancarova, Miroslava Krepelova, Anna Puchmajerova, Alena Soucek, Ondrej Prchalova, Darina Sumnik, Zdenek Sedlacek, Zdenek Producer: 20160209 In: Bone vol. 81 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 51 results.