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	121.	[Pregnancy hyperphenylalanemia and its diagnostic importance (author's transl)]. [electronic resource] by Hyánek, J Trnka, V Homolka, J Seemanová, E Macek, M Cervenka, J Nevsímalová, S Dolezal, A Wünschová, N Hoza, J Kapras, J Kunová, V Tauchmanová, H Producer: 19750905 In: Casopis lekaru ceskych vol. 114 Availability: No items available. Save to lists Add to cart (remove)
	122.	Results of screening for phenylalanine and other amino acid disturbances among pregnant women. [electronic resource] by Hyánek, J Homolka, J Trnka, J Seemanová, E Cervenka, J Tresohlavá, Z Kapras, J Dolezal, A Srácek, J Vácha, V Hoza, J Losan, F Nevsímalová, S Malá, M Viletová, H Producer: 19820225 In: Journal of inherited metabolic disease vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	123.	Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type. [electronic resource] by Van Maldergem, L Yuksel-Apak, M Kayserili, H Seemanova, E Giurgea, S Basel-Vanagaite, L Leao-Teles, E Vigneron, J Foulon, M Greally, M Jaeken, J Mundlos, S Dobyns, W B Producer: 20090108 In: Neurology vol. 71 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	124.	[Current status, problems and perspective in prenatal genetic diagnosis]. [electronic resource] by Macek, M Seemanová, E Salichová, J Reisteinová, H Krahulcová, A Goetz, P Houstĕk, J Bresták, M Fuchs, V Kotásek, A Zwinger, A Kimlová, I Tomásová, H Elleder, M Rezácová, D Kuklík, M Subrt, I Producer: 19780508 In: Casopis lekaru ceskych vol. 117 Availability: No items available. Save to lists Add to cart (remove)
	125.	Autosomal dominant distal renal tubular acidosis is associated in three families with heterozygosity for the R589H mutation in the AE1 (band 3) Cl-/HCO3- exchanger. [electronic resource] by Jarolim, P Shayakul, C Prabakaran, D Jiang, L Stuart-Tilley, A Rubin, H L Simova, S Zavadil, J Herrin, J T Brouillette, J Somers, M J Seemanova, E Brugnara, C Guay-Woodford, L M Alper, S L Producer: 19980407 In: The Journal of biological chemistry vol. 273 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	126.	Rescue of a telomere length defect of Nijmegen breakage syndrome cells requires NBS and telomerase catalytic subunit. [electronic resource] by Ranganathan, V Heine, W F Ciccone, D N Rudolph, K L Wu, X Chang, S Hai, H Ahearn, I M Livingston, D M Resnick, I Rosen, F Seemanova, E Jarolim, P DePinho, R A Weaver, D T Producer: 20011204 In: Current biology : CB vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	127.	[Results of screening for aminoacidopathies in pregnant women]. [electronic resource] by Hyánek, J Trnka, V Homolka, J Vácha, V Srácek, J Cervenka, J Dolezal, A Seemanová, E Kapras, J Malá, M Wünschová, N Holub, J Hoza, J Losan, F Nevsímalová, S Kubík, M Viletová, H Ronová, R Kunová, V Matousová, M Producer: 19780310 In: Ceskoslovenska pediatrie vol. 32 Availability: No items available. Save to lists Add to cart (remove)
	128.	Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. [electronic resource] by Varon, R Vissinga, C Platzer, M Cerosaletti, K M Chrzanowska, K H Saar, K Beckmann, G Seemanová, E Cooper, P R Nowak, N J Stumm, M Weemaes, C M Gatti, R A Wilson, R K Digweed, M Rosenthal, A Sperling, K Concannon, P Reis, A Producer: 19980529 In: Cell vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	129.	Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. [electronic resource] by Kohlhase, J Taschner, P E Burfeind, P Pasche, B Newman, B Blanck, C Breuning, M H ten Kate, L P Maaswinkel-Mooy, P Mitulla, B Seidel, J Kirkpatrick, S J Pauli, R M Wargowski, D S Devriendt, K Proesmans, W Gabrielli, O Coppa, G V Wesby-van Swaay, E Trembath, R C Schinzel, A A Reardon, W Seemanova, E Engel, W Producer: 19990413 In: American journal of human genetics vol. 64 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	130.	Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. [electronic resource] by Schulz, A L Albrecht, B Arici, C van der Burgt, I Buske, A Gillessen-Kaesbach, G Heller, R Horn, D Hübner, C A Korenke, G C König, R Kress, W Krüger, G Meinecke, P Mücke, J Plecko, B Rossier, E Schinzel, A Schulze, A Seemanova, E Seidel, H Spranger, S Tuysuz, B Uhrig, S Wieczorek, D Kutsche, K Zenker, M Producer: 20080229 In: Clinical genetics vol. 73 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	131.	Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations. [electronic resource] by Witsch-Baumgartner, M Schwentner, I Gruber, M Benlian, P Bertranpetit, J Bieth, E Chevy, F Clusellas, N Estivill, X Gasparini, G Giros, M Kelley, R I Krajewska-Walasek, M Menzel, J Miettinen, T Ogorelkova, M Rossi, M Scala, I Schinzel, A Schmidt, K Schönitzer, D Seemanova, E Sperling, K Syrrou, M Talmud, P J Wollnik, B Krawczak, M Labuda, D Utermann, G Producer: 20080430 In: Journal of medical genetics vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	132.	Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy. [electronic resource] by Van Maldergem, L Magré, J Khallouf, T E Gedde-Dahl, T Delépine, M Trygstad, O Seemanova, E Stephenson, T Albott, C S Bonnici, F Panz, V R Medina, J L Bogalho, P Huet, F Savasta, S Verloes, A Robert, J J Loret, H De Kerdanet, M Tubiana-Rufi, N Mégarbané, A Maassen, J Polak, M Lacombe, D Kahn, C R Silveira, E L D'Abronzo, F H Grigorescu, F Lathrop, M Capeau, J O'Rahilly, S Producer: 20021213 In: Journal of medical genetics vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	133.	Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. [electronic resource] by Magré, J Delépine, M Khallouf, E Gedde-Dahl, T Van Maldergem, L Sobel, E Papp, J Meier, M Mégarbané, A Bachy, A Verloes, A d'Abronzo, F H Seemanova, E Assan, R Baudic, N Bourut, C Czernichow, P Huet, F Grigorescu, F de Kerdanet, M Lacombe, D Labrune, P Lanza, M Loret, H Matsuda, F Navarro, J Nivelon-Chevalier, A Polak, M Robert, J J Tric, P Tubiana-Rufi, N Vigouroux, C Weissenbach, J Savasta, S Maassen, J A Trygstad, O Bogalho, P Freitas, P Medina, J L Bonnicci, F Joffe, B I Loyson, G Panz, V R Raal, F J O'Rahilly, S Stephenson, T Kahn, C R Lathrop, M Capeau, J Producer: 20010816 In: Nature genetics vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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