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	1.	SNPman: a program for genotype calling using run data from TaqMan allelic discrimination. [electronic resource] by Konopac, Martin Dusatkova, Petra Cinek, Ondrej Producer: 20120209 In: Bioinformatics (Oxford, England) vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Short stature in a boy with atypical progeria syndrome due to LMNA c.433G>A [p.(Glu145Lys)]: apparent growth hormone deficiency but poor response to growth hormone therapy. [electronic resource] by Toni, Ledjona Dušátková, Petra Novotná, Dana Zemková, Daniela Průhová, Štěpánka Lebl, Jan Producer: 20191227 In: Journal of pediatric endocrinology & metabolism : JPEM vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	HNF1A mutation presenting with fetal macrosomia and hypoglycemia in childhood prior to onset of overt diabetes. [electronic resource] by Dusatkova, Petra Pruhova, Stepanka Sumnik, Zdenek Kolouskova, Stanislava Obermannova, Barbora Cinek, Ondrej Lebl, Jan Producer: 20110705 In: Journal of pediatric endocrinology & metabolism : JPEM vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Two cases of diabetic ketoacidosis in HNF1A-MODY linked to severe dehydration: is it time to change the diagnostic criteria for MODY? [electronic resource] by Pruhova, Stepanka Dusatkova, Petra Neumann, David Hollay, Erik Cinek, Ondrej Lebl, Jan Sumnik, Zdenek Producer: 20140421 In: Diabetes care vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	HNF1A mutation presenting with fetal macrosomia and hypoglycemia in childhood prior to onset of overt diabetes. [electronic resource] by Dusátková, Petra Průhová, Stepánka Sumník, Zdenek Kolousková, Stanislava Obermannová, Barbora Cinek, Ondrej Lebl, Jan Producer: 20110830 In: Journal of pediatric endocrinology & metabolism : JPEM vol. 24 Availability: No items available. Save to lists Add to cart (remove)
	6.	Frameshift mutations in the insulin gene leading to prolonged molecule of insulin in two families with Maturity-Onset Diabetes of the Young. [electronic resource] by Dusatkova, Lenka Dusatkova, Petra Vosahlo, Jan Vesela, Klara Cinek, Ondrej Lebl, Jan Pruhova, Stepanka Producer: 20160128 In: European journal of medical genetics vol. 58 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Novel calcium-sensing receptor cytoplasmic tail deletion mutation causing autosomal dominant hypocalcemia: molecular and clinical study. [electronic resource] by Obermannova, Barbora Sumnik, Zdenek Dusatkova, Petra Cinek, Ondrej Grant, Michael Lebl, Jan Hendy, Geoffrey N Producer: 20160629 In: European journal of endocrinology vol. 174 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Ancestral mutations may cause a significant proportion of GCK-MODY. [electronic resource] by Dusatkova, Petra Pruhova, Stepanka Borowiec, Maciej Vesela, Klara Antosik, Karolina Lebl, Jan Mlynarski, Wojciech Cinek, Ondrej Producer: 20130122 In: Pediatric diabetes vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	The relationship between serum bilirubin and Crohn's disease. [electronic resource] by Leníček, Martin Duricová, Dana Hradsky, Ondrej Dušátková, Petra Jirásková, Alena Lukáš, Milan Nachtigal, Petr Vítek, Libor Producer: 20141017 In: Inflammatory bowel diseases vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Hepatic phenotypes of HNF1B gene mutations: a case of neonatal cholestasis requiring portoenterostomy and literature review. [electronic resource] by Kotalova, Radana Dusatkova, Petra Cinek, Ondrej Dusatkova, Lenka Dedic, Tomas Seeman, Tomas Lebl, Jan Pruhova, Stepanka Producer: 20150928 In: World journal of gastroenterology vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Choledochal Cyst with 17q12 Chromosomal Duplication. [electronic resource] by Kotalova, Radana Dusatkova, Petra Drabova, Jana Elblova, Lenka Dedic, Tomas Cinek, Ondrej Lebl, Jan Pruhova, Stepanka Producer: 20180101 In: Annals of human genetics vol. 82 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations. [electronic resource] by Pruhova, Stepanka Dusatkova, Petra Sumnik, Zdenek Kolouskova, Stanislava Pedersen, Oluf Hansen, Torben Cinek, Ondrej Lebl, Jan Producer: 20110311 In: Pediatric diabetes vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Two independent genetic factors responsible for the associations of the IBD5 locus with Crohn's disease in the Czech population. [electronic resource] by Hradsky, Ondrej Dusatkova, Petra Lenicek, Martin Bronsky, Jiri Duricova, Dana Nevoral, Jiri Vitek, Libor Lukas, Milan Cinek, Ondrej Producer: 20111028 In: Inflammatory bowel diseases vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Could a combination of heterozygous ABCC8 and KCNJ11 mutations cause congenital hyperinsulinism? [electronic resource] by Rozenkova, Klara Nessa, Azizun Obermannova, Barbora Elblova, Lenka Dusatkova, Petra Sumnik, Zdenek Lebl, Jan Hussain, Khalid Pruhova, Stepanka Producer: 20180730 In: Journal of pediatric endocrinology & metabolism : JPEM vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	The CTLA4 variants may interact with the IL23R- and NOD2-conferred risk in development of Crohn's disease. [electronic resource] by Hradsky, Ondrej Dusatkova, Petra Lenicek, Martin Bronsky, Jiri Nevoral, Jiri Vitek, Libor Lukas, Milan Zeniskova, Ivana Cinek, Ondrej Producer: 20100713 In: BMC medical genetics vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	MODY in Ukraine: genes, clinical phenotypes and treatment. [electronic resource] by Globa, Evgenia Zelinska, Nataliya Elblova, Lenka Dusatkova, Petra Cinek, Ondrej Lebl, Jan Colclough, Kevin Ellard, Sian Pruhova, Stepanka Producer: 20180530 In: Journal of pediatric endocrinology & metabolism : JPEM vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Association of IL23R p.381Gln and ATG16L1 p.197Ala with Crohn disease in the Czech population. [electronic resource] by Dusatkova, Petra Hradsky, Ondrej Lenicek, Martin Bronsky, Jiri Nevoral, Jiri Kotalova, Radana Bajerova, Katerina Vitek, Libor Lukas, Milan Cinek, Ondrej Producer: 20100514 In: Journal of pediatric gastroenterology and nutrition vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Lessons from whole-exome sequencing in MODYX families. [electronic resource] by Dusatkova, Petra Fang, Mingyan Pruhova, Stepanka Gjesing, Anette P Cinek, Ondrej Hansen, Torben Pedersen, Oluf B Xu, Xun Lebl, Jan Producer: 20141118 In: Diabetes research and clinical practice vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Familial mild hyperglycemia associated with a novel ABCC8-V84I mutation within three generations. [electronic resource] by Gonsorcikova, Lucie Vaxillaire, Martine Pruhova, Stepanka Dechaume, Aurélie Dusatkova, Petra Cinek, Ondrej Pedersen, Oluf Froguel, Philippe Hansen, Torben Lebl, Jan Producer: 20110822 In: Pediatric diabetes vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	[Liver, kidneys and diabetes: three faces of HNF1B gene deficit]. [electronic resource] by Lebl, Jan Koloušková, Stanislava Dušátková, Petra Cinek, Ondřej Dušátková, Lenka Dědič, Tomáš Kotalová, Radana Sumník, Zdeněk Seeman, Tomáš Průhová, Stěpánka Publication details: Vnitrni lekarstvi Sep 2014 In: Vnitrni lekarstvi vol. 60 Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 35 results.