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Pediatria Polska
|
March 1, 1996
[Microcephaly with chromosomal instability and immunodeficiency--Nijmegen syndrome]
K H Chrzanowska
Klinische Padiatrie
|
September 1, 1987
The Dubowitz syndrome--one more case
K H Chrzanowska, M Krajewska-Walasek
Journal of Medical Genetics
|
February 1, 1996
Nijmegen breakage syndrome
I van der Burgt, K H Chrzanowska, D Smeets, et al.
Clinical and Experimental Immunology
|
October 23, 2002
Heterogeneity of humoral immune abnormalities in children with Nijmegen breakage syndrome: an 8-year follow-up study in a single centre
H Gregorek, K H Chrzanowska, J Michałkiewicz, et al.
Clinical Genetics
|
February 1, 1989
Phenotype variability in the Miller acrofacial dysostosis syndrome. Report of two further patients
K H Chrzanowska, J P Fryns, M Krajewska-Walasek, et al.
American Journal of Medical Genetics
|
April 1, 1989
Skeletal dysplasia syndrome with progeroid appearance, characteristic facial and limb anomalies, multiple synostoses, and distinct skeletal changes: a variant example of the Lenz-Majewski syndrome
K H Chrzanowska, J P Fryns, M Krajewska-Walasek, et al.
European Journal of Medical Genetics
|
June 3, 2006
Detection of a deletion of exons 8-16 of the UBE3A gene in familial Angelman syndrome using a semi-quantitative dosage PCR based assay
L Boyes, A J Wallace, M Krajewska-Walasek, et al.
Neuroradiology
|
February 9, 2000
Cranial MRI in the Nijmegen breakage syndrome
M Bekiesińska-Figatowska, K H Chrzanowska, J Sikorska, et al.
Clinical Genetics
|
July 3, 1998
Kabuki (Niikawa-Kuroki) syndrome associated with immunodeficiency
K H Chrzanowska, M Krajewska-Walasek, J Kuś, et al.
American Journal of Human Genetics
|
March 1, 1997
The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21
K Saar, K H Chrzanowska, M Stumm, et al.
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of 2
Search research articles
Search
Showing results (1-10 of 16) with videos related to
Sort By:
Page
of 2
Pediatria Polska
|
March 1, 1996
[Microcephaly with chromosomal instability and immunodeficiency--Nijmegen syndrome]
K H Chrzanowska
Klinische Padiatrie
|
September 1, 1987
The Dubowitz syndrome--one more case
K H Chrzanowska, M Krajewska-Walasek
Journal of Medical Genetics
|
February 1, 1996
Nijmegen breakage syndrome
I van der Burgt, K H Chrzanowska, D Smeets, et al.
Clinical and Experimental Immunology
|
October 23, 2002
Heterogeneity of humoral immune abnormalities in children with Nijmegen breakage syndrome: an 8-year follow-up study in a single centre
H Gregorek, K H Chrzanowska, J Michałkiewicz, et al.
Clinical Genetics
|
February 1, 1989
Phenotype variability in the Miller acrofacial dysostosis syndrome. Report of two further patients
K H Chrzanowska, J P Fryns, M Krajewska-Walasek, et al.
American Journal of Medical Genetics
|
April 1, 1989
Skeletal dysplasia syndrome with progeroid appearance, characteristic facial and limb anomalies, multiple synostoses, and distinct skeletal changes: a variant example of the Lenz-Majewski syndrome
K H Chrzanowska, J P Fryns, M Krajewska-Walasek, et al.
European Journal of Medical Genetics
|
June 3, 2006
Detection of a deletion of exons 8-16 of the UBE3A gene in familial Angelman syndrome using a semi-quantitative dosage PCR based assay
L Boyes, A J Wallace, M Krajewska-Walasek, et al.
Neuroradiology
|
February 9, 2000
Cranial MRI in the Nijmegen breakage syndrome
M Bekiesińska-Figatowska, K H Chrzanowska, J Sikorska, et al.
Clinical Genetics
|
July 3, 1998
Kabuki (Niikawa-Kuroki) syndrome associated with immunodeficiency
K H Chrzanowska, M Krajewska-Walasek, J Kuś, et al.
American Journal of Human Genetics
|
March 1, 1997
The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21
K Saar, K H Chrzanowska, M Stumm, et al.
Page
of 2