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	1.	Phenylalanine hydroxylase gene mutation R408W is present on 84% of Estonian phenylketonuria chromosomes. [electronic resource] by Lilleväli, H Ounap, K Metspalu, A Producer: 19970304 In: European journal of human genetics : EJHG vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Two sisters with growth failure, microcephaly, peculiar facies and apical dystrophy: the presentation of brachymorphism-onychodysplasia-dysphalangism syndrome? [electronic resource] by Ounap, K Justus, I Lipping-Sitska, M Producer: 19980413 In: Clinical dysmorphology vol. 7 Availability: No items available. Save to lists Add to cart (remove)
	3.	Development of the phenylketonuria screening programme in Estonia. [electronic resource] by Ounap, K Lilleväli, H Metspalu, A Lipping-Sitska, M Producer: 19980608 In: Journal of medical screening vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Mutation 985A>G in the MCAD gene shows low incidence in Estonian population. [electronic resource] by Lilleväli, H Margus, K Ounap, K Metspalu, A Producer: 20000307 In: Human mutation vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	The incidence and characterization of phenylketonuric patients in Estonia. [electronic resource] by Ounap, K Lilleväli, H Klaassen, T Metspalu, A Sitska, M Producer: 19961122 In: Journal of inherited metabolic disease vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Sudden death of a girl with Prader-Willi syndrome. [electronic resource] by Oiglane, E Ounap, K Bartsch, O Rein, R Talvik, T Producer: 20030425 In: Genetic counseling (Geneva, Switzerland) vol. 13 Availability: No items available. Save to lists Add to cart (remove)
	7.	Familial Williams-Beuren syndrome. [electronic resource] by Ounap, K Laidre, P Bartsch, O Rein, R Lipping-Sitska, M Producer: 19990310 In: American journal of medical genetics vol. 80 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Long-term complications in Estonian galactosemia patients with a less strict lactose-free diet and metabolic control. [electronic resource] by Krabbi, K Uudelepp, M-L Joost, K Zordania, R Õunap, K Producer: 20111013 In: Molecular genetics and metabolism vol. 103 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Boy with celiac disease, malformations, and ring chromosome 13 with deletion 13q32-->qter. [electronic resource] by Talvik, I Ounap, K Bartsch, O Ilus, T Uibo, O Talvik, T Producer: 20001024 In: American journal of medical genetics vol. 93 Availability: No items available. Save to lists Add to cart (remove)
	10.	A Boy with Holt-Oram Syndrome Caused by Novel Mutation c.1304delT in the TBX5 Gene. [electronic resource] by Muru, K Kalev, I Teek, R Sõnajalg, M Kuuse, K Reimand, T Ounap, K Publication details: Molecular syndromology Sep 2011 In: Molecular syndromology vol. 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Three patients with 9p deletions including DMRT1 and DMRT2: a girl with XY complement, bilateral ovotestes, and extreme growth retardation, and two XX females with normal pubertal development. [electronic resource] by Ounap, K Uibo, O Zordania, R Kiho, L Ilus, T Oiglane-Shlik, E Bartsch, O Producer: 20050302 In: American journal of medical genetics. Part A vol. 130A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation. [electronic resource] by Puusepp, H Kall, K Salomons, G S Talvik, I Männamaa, M Rein, R Jakobs, C Õunap, K Producer: 20140408 In: Journal of inherited metabolic disease vol. 33 Suppl 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Large gene panel sequencing in clinical diagnostics-results from 501 consecutive cases. [electronic resource] by Pajusalu, S Kahre, T Roomere, H Murumets, Ü Roht, L Simenson, K Reimand, T Õunap, K Producer: 20180806 In: Clinical genetics vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Maternally and paternally inherited deletion of 7q31 involving the FOXP2 gene in two families. [electronic resource] by Zilina, O Reimand, T Zjablovskaja, P Männik, K Männamaa, M Traat, A Puusepp-Benazzouz, H Kurg, A Ounap, K Producer: 20130620 In: American journal of medical genetics. Part A vol. 158A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Whole Xp Deletion in a Girl with Mental Retardation, Epilepsy, and Biochemical Features of OTC Deficiency. [electronic resource] by Joost, K Tammur, P Teek, R Zilina, O Peters, M Kreile, M Lace, B Zordania, R Talvik, I Ounap, K Publication details: Molecular syndromology Sep 2011 In: Molecular syndromology vol. 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia. [electronic resource] by Joost, K Ounap, K Zordania, R Uudelepp, M-L Olsen, R K Kall, K Kilk, K Soomets, U Kahre, T Producer: 20130225 In: JIMD reports vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Hearing impairment in Estonia: an algorithm to investigate genetic causes in pediatric patients. [electronic resource] by Teek, R Kruustük, K Žordania, R Joost, K Kahre, T Tõnisson, N Nelis, M Zilina, O Tranebjaerg, L Reimand, T Ounap, K Producer: 20140626 In: Advances in medical sciences vol. 58 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	A Diagnostic Algorithm for Mitochondrial Disorders in Estonian Children. [electronic resource] by Joost, K Rodenburg, R J Piirsoo, A van den Heuvel, L Zordania, R Põder, H Talvik, I Kilk, K Soomets, U Ounap, K Publication details: Molecular syndromology Sep 2012 In: Molecular syndromology vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes. [electronic resource] by Bartholdi, D Krajewska-Walasek, M Ounap, K Gaspar, H Chrzanowska, K H Ilyana, H Kayserili, H Lurie, I W Schinzel, A Baumer, A Producer: 20090521 In: Journal of medical genetics vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	The natural history of classic galactosemia: lessons from the GalNet registry. [electronic resource] by Rubio-Gozalbo, M E Haskovic, M Bosch, A M Burnyte, B Coelho, A I Cassiman, D Couce, M L Dawson, C Demirbas, D Derks, T Eyskens, F Forga, M T Grunewald, S Häberle, J Hochuli, M Hubert, A Huidekoper, H H Janeiro, P Kotzka, J Knerr, I Labrune, P Landau, Y E Langendonk, J G Möslinger, D Müller-Wieland, D Murphy, E Õunap, K Ramadza, D Rivera, I A Scholl-Buergi, S Stepien, K M Thijs, A Tran, C Vara, R Visser, G Vos, R de Vries, M Waisbren, S E Welsink-Karssies, M M Wortmann, S B Gautschi, M Treacy, E P Berry, G T Producer: 20191125 In: Orphanet journal of rare diseases vol. 14 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 23 results.