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	101.	[Mutations in tumor suppressor gene NBS1 in adult patients with malignancies]. [electronic resource] by Seemanová, E Hoch, J Herzogová, J Kawaciuk, I Janda, J Kohoutová, M Seeman, P Varon, R Sperling, K Producer: 20060523 In: Casopis lekaru ceskych vol. 145 Availability: No items available. Save to lists Add to cart (remove)
	102.	Linkage analysis of families with fragile-X mental retardation, using a novel RFLP marker (DXS 304). [electronic resource] by Dahl, N Goonewardena, P Malmgren, H Gustavson, K H Holmgren, G Seemanova, E Annerén, G Flood, A Pettersson, U Producer: 19890906 In: American journal of human genetics vol. 45 Availability: No items available. Save to lists Add to cart (remove)
	103.	Studies on cultured fibroblasts from patients with cutaneous malignant melanoma. [electronic resource] by Rüdiger, H W Breitbart, E Roser, M Weichenthal, M Frenzer, S Bielfeld, V Oldigs, M Boehm, A Seemanová, E Producer: 19961206 In: Acta Universitatis Carolinae. Medica vol. 38 Availability: No items available. Save to lists Add to cart (remove)
	104.	[Comparison of the diagnostic effectiveness of prenatal genetic diagnosis in the 1st and 2d trimester of pregnancy]. [electronic resource] by Macek, M Tomásová, H Hronková, J Sedlácek, Z Burjanková, J Tůmová, V Candrová, M Hájek, Z Kulovaný, E Seemanová, E Producer: 19880311 In: Ceskoslovenska pediatrie vol. 42 Availability: No items available. Save to lists Add to cart (remove)
	105.	Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis. [electronic resource] by Bartsch, O Vlcková, Z Erdogan, F Ullmann, R Novotná, D Spiegel, M Beyer, V Haaf, T Zechner, U Seemanová, E Producer: 20080118 In: Cytogenetic and genome research vol. 119 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	106.	PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse. [electronic resource] by Tassabehji, M Newton, V E Leverton, K Turnbull, K Seemanova, E Kunze, J Sperling, K Strachan, T Read, A P Producer: 19950105 In: Human molecular genetics vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	107.	Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations. [electronic resource] by Varon, R Seemanova, E Chrzanowska, K Hnateyko, O Piekutowska-Abramczuk, D Krajewska-Walasek, M Sykut-Cegielska, J Sperling, K Reis, A Producer: 20001207 In: European journal of human genetics : EJHG vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	108.	Screening of amino acid enzymopathies in pregnancy and possibilities of their prenatal diagnosis. [electronic resource] by Hyánek, J Trnka, V Homolka, J Seemanová, E Macek, M Dolezal, A Wünschová, N Hoza, J Kapras, J Kunová, V Tauchmanová, H Producer: 19780929 In: Acta Universitatis Carolinae. Medica. Monographia no. 79 Pt 3 Availability: No items available. Save to lists Add to cart (remove)
	109.	Methylation and mutation patterns in the fragile X syndrome. [electronic resource] by Malmgren, H Steén-Bondeson, M L Gustavson, K H Seémanova, E Holmgren, G Oberlé, I Mandel, J L Pettersson, U Dahl, N Producer: 19920716 In: American journal of medical genetics vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	110.	[A dissecting aortic aneurysm in a female patient with Turner syndrome]. [electronic resource] by Chlumský, J Kölbel, F Buresová, M Sváb, P Krutílková, V Koudelková, E Pavel, P Srnský, V Seemanová, E Zemková, J Novotná, D Producer: 20001019 In: Vnitrni lekarstvi vol. 46 Availability: No items available. Save to lists Add to cart (remove)
	111.	Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism. [electronic resource] by Avela, K Lipsanen-Nyman, M Idänheimo, N Seemanová, E Rosengren, S Mäkelä, T P Perheentupa, J Chapelle, A D Lehesjoki, A E Producer: 20000811 In: Nature genetics vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	112.	Beta-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brother. [electronic resource] by Kleijer, W J Hu, P Thoomes, R Boer, M Huijmans, J G Blom, W Van Diggelen, O P Seemanova, E Macek, M Producer: 19910502 In: Journal of inherited metabolic disease vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	113.	Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies. [electronic resource] by Kortüm, F Chyrek, M Fuchs, S Albrecht, B Gillessen-Kaesbach, G Mütze, U Seemanova, E Tinschert, S Wieczorek, D Rosenberger, G Kutsche, K Publication details: Molecular syndromology Dec 2011 In: Molecular syndromology vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	114.	The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21. [electronic resource] by Saar, K Chrzanowska, K H Stumm, M Jung, M Nürnberg, G Wienker, T F Seemanová, E Wegner, R D Reis, A Sperling, K Producer: 19970318 In: American journal of human genetics vol. 60 Availability: No items available. Save to lists Add to cart (remove)
	115.	Defects of insulin and IGF-1 action at receptor and postreceptor level in a patient with type A syndrome of insulin resistance. [electronic resource] by Knebel, B Kellner, S Kotzka, J Siemeister, G Dreyer, M Streicher, R Schiller, M Rüdiger, H W Seemanova, E Krone, W Müller-Wieland, D Producer: 19970630 In: Biochemical and biophysical research communications vol. 234 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	116.	[Experience with diagnosing phenylalanine metabolism prior to marriage (author's transl)]. [electronic resource] by Hyánek, J Seemanová, E Zeman, L Losan, F Salichová, J Homolka, J Viletová, H Kunová, V Matousová, M Nováková, V Kubík, M Sujanová, H Producer: 19781227 In: Casopis lekaru ceskych vol. 117 Availability: No items available. Save to lists Add to cart (remove)
	117.	Nonsyndromic cleft lip with or without cleft palate: evidence of linkage to BCL3 in 17 multigenerational families. [electronic resource] by Stein, J Mulliken, J B Stal, S Gasser, D L Malcolm, S Winter, R Blanton, S H Amos, C Seemanova, E Hecht, J T Producer: 19951012 In: American journal of human genetics vol. 57 Availability: No items available. Save to lists Add to cart (remove)
	118.	[Nijmegen breakage syndrome in Slovakia]. [electronic resource] by Seemanová, E Pohanka, V Seeman, P Misovicová, N Behunová, J Kvasnicová, M Dlholucký, S Valachová, A Cisarik, F Veghová, E Varon, R Sperling, K Producer: 20050412 In: Casopis lekaru ceskych vol. 143 Availability: No items available. Save to lists Add to cart (remove)
	119.	Nonsyndromic cleft lip with or without cleft palate: erratum. [electronic resource] by Amos, C Stein, J Mulliken, J B Stal, S Malcolm, S Winter, R Blanton, S H Seemanova, E Gasser, D L Hecht, J T Producer: 19960925 In: American journal of human genetics vol. 59 Availability: No items available. Save to lists Add to cart (remove)
	120.	An in-frame insertion in exon 3 and a nonsense mutation in exon 2 of the insulin receptor gene associated with severe insulin resistance in a patient with Rabson-Mendenhall syndrome. [electronic resource] by Müller-Wieland, D van der Vorm, E R Streicher, R Krone, W Seemanova, E Dreyer, M Rüdiger, H W Rosipal, S R Maassen, J A Producer: 19940201 In: Diabetologia vol. 36 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 133 results.