Atypical clinical picture of the Nijmegen breakage syndrome associated with developmental abnormalities of the brain

Por CHRZANOWSKA, K., STUMM, M., BEKIESINSKA-FIGAT..., M., VARON, R., BIALECKA, M., GREGOREK, H., MICHALKIEWICZ, J., KRAJEWSKA-WALASEK, M., JOZWIAK, S., REIS, A.
Publicado em 2001

Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome

Por Witsch-Baumgartne..., M, Gruber, M, Kraft, H, Rossi, M, Clayton, P, Giros, M, Haas, D, Kelley, R, Krajewska-Walasek, M, Utermann, G
Publicado em 2004

DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome

Por Correa-Cerro, L, Wassif, C, Waye, J, Krakowiak, P, Cozma, D, Dobson, N, Levin, S, Anadiotis, G, Steiner, R, Krajewska-Walasek, M, Nowaczyk, M, Porter, F
Publicado em 2005

Imprinting-mutation mechanisms in Prader-Willi syndrome.

Por Ohta, T, Gray, T A, Rogan, P K, Buiting, K, Gabriel, J M, Saitoh, S, Muralidhar, B, Bilienska, B, Krajewska-Walasek, M, Driscoll, D J, Horsthemke, B, Butler, M G, Nicholls, R D
Publicado em 1999

Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications

Por Kotzot, D., Martinez, M., Bagci, G., Basaran, S., Baumer, A., Binkert, F., Brecevic, L., Castellan, C., Chrzanowska, K., Dutly, F., Gutkowska, A., Karauzum, S. B., Krajewska-Walasek, M., Luleci, G., Miny, P., Riegel, M., Schuffenhauer, S., Seidel, H., Schinzel, A.
Publicado em 2000

Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing

Por Ciara, E., Rokicki, D., Halat, P., Karkucińska-Więckowska, A., Piekutowska-Abramczuk, D., Mayr, J., Trubicka, J., Szymańska-Dębińska, T., Pronicki, M., Pajdowska, M., Dudzińska, M., Giżewska, M., Krajewska-Walasek, M., Książyk, J., Sperl, W., Płoski, R., Pronicka, E.
Publicado no Mol Genet Metab Rep (2016)