E-LIB Suche - Ergebnisse für: Krajewska‐Walasek, M.

1

Phenotype expansion and development in Kosaki overgrowth sy..:

Gawliński, P. ; Pelc, M. ; Ciara, E....
Clinical Genetics. 93 (2018) 4 - p. 919-924 , 2018

Link: https://doi.org/10.1111/..

2

Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in tw..:

Piekutowska-Abramczuk, D. ; Pronicki, M. ; Strawa, K....
Clinical Genetics. 85 (2013) 6 - p. 573-577 , 2013

Link: https://doi.org/10.1111/..

3

RSK2 mutation co‐segregates with X‐linked intellectual disa..:

Maystadt, I ; Destree, A ; Benoit, V...
Clinical Genetics. 85 (2013) 1 - p. 96-99 , 2013

Link: https://doi.org/10.1111/..

4

SURF1 missense mutations promote a mild Leigh phenotype:

Piekutowska‐Abramczuk, D ; Magner, M ; Popowska, E...
Clinical Genetics. 76 (2009) 2 - p. 195-204 , 2009

Link: https://doi.org/10.1111/..

5

CHILD syndrome: clinical picture and diagnostic procedures:

Kamiǹska‐Winciorek, G ; Brzeziǹska‐Wcisło, L ; Jezela‐Stanek, A...
Journal of the European Academy of Dermatology and Venereology. 21 (2007) 5 - p. 715-716 , 2007

Link: https://doi.org/10.1111/..

6

Maternal urinary steroid profiles in prenatal diagnosis of ..:

Jezela‐Stanek, A ; Małunowicz, EM ; Ciara, E...
Clinical Genetics. 69 (2005) 1 - p. 77-85 , 2005

Link: https://doi.org/10.1111/..

7

DHCR7 mutations and genotype–phenotype correlation in 37 Po..:

Ciara, E ; Nowaczyk, MJM ; Witsch‐Baumgartner, M...
Clinical Genetics. 66 (2004) 6 - p. 517-524 , 2004

Link: https://doi.org/10.1111/..

8

Kabuki (Niikawa‐Kuroki) syndrome associated with immunodefi..:

Chrzanowska, Krystyna H ; Krajewska‐Walasek, M. ; Kuś, J....
Clinical Genetics. 53 (1998) 4 - p. 308-312 , 1998

Link: https://doi.org/10.1111/..

9

Eleven polish patients with microcephaly, immunodeficiency,..:

Chrzanowska, K. H. ; Kleijer, W. J. ; Krajewska‐Walasek, M....
American Journal of Medical Genetics. 57 (1995) 3 - p. 462-471 , 1995

Link: https://doi.org/10.1002/..

10

Biochemical and DNA markers of X‐linked hypophosphataemic r..:

Pronicka, E. ; Popowska, E. ; Rowińska, E....
Journal of Inherited Metabolic Disease. 15 (1992) 3 - p. 335-338 , 1992

Link: https://doi.org/10.1007/..

11

Skeletal dysplasia syndrome with progeroid appearance, char..:

Chrzanowska, K. H. ; Fryns, J. P. ; Krajewska‐Walasek, M...
American Journal of Medical Genetics. 32 (1989) 4 - p. 470-474 , 1989

Link: https://doi.org/10.1002/..

12

Melnick‐needles syndrome in males:

Krajewska‐Walasek, M. ; Winkielman, J. ; Gorlin, R. J..
American Journal of Medical Genetics. 27 (1987) 1 - p. 153-158 , 1987

Link: https://doi.org/10.1002/..

13

Anthropometric characteristics of 65 Polish Smith-Lemli-Opi..:

Różdżyńska-Świątkowska, A. ; Ciara, E. ; Halat-Wolska, P...
Journal of Applied Genetics. , 2021

Link: https://doi.org/10.1007/..

14

Correction to: Anthropometric characteristics of 65 Polish ..:

Różdżyńska-Świątkowska, A. ; Ciara, E. ; Halat-Wolska, P...
Journal of Applied Genetics. , 2021

Link: https://doi.org/10.1007/..

15

Difficulties in recognition of pyruvate dehydrogenase compl..:

Ciara, E. ; Rokicki, D. ; Halat, P....
Molecular Genetics and Metabolism Reports. 7 (2016) - p. 70-76 , 2016

Link: https://doi.org/10.1016/..