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内部出版物
SpringerLink电子期刊(9)
Elsevier电子期刊(4)
在“
SpringerLink电子期刊
”中,
命中:
9
条,耗时:小于0.01 秒
在所有数据库中总计命中:
13
条
1.
Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome
作者:
Magdalena Koczkowska
;
Jolanta
Wierzba
;
Robert Śmigiel…
关键词:
22q11.2 deletion syndrome
;
Array comparative genomic hybridization
;
17q21.31 microdeletion syndrome
;
NF1 microduplication syndrome
;
chromosome 6p25.3p25.2 deletion
;
NAALADL2
刊名:Journal of Applied Genetics
出版年:2017
2.
Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome
作者:
Alina Kuzniacka (1)
Jolanta
Wierzba
(2)
Magdalena Ratajska (1)
Beata S. Lipska (1)
Magdalena Koczkowska (1)
Monika Malinowska (1)
Janusz Limon (1)
关键词:
Cornelia de Lange syndrome
;
NIPBL gene
;
Point mutations
;
Large genomic rearrangements
刊名:Journal of Applied Genetics
出版年:2013
3.
On the significance of germline cytogenetic rearrangements at MYCN locus in neuroblastoma
作者:
Beata S Lipska (1)
Magdalena Koczkowska (1)
Jolanta
Wierzba
(2) (3)
Anna Ploszynska (3)
Mariola Iliszko (1)
Ewa Izycka-Swieszewska (4)
Elzbieta Adamkiewicz-Drozynska (3)
Janusz Limon (1)
关键词:
Neuroblastoma
;
MYCN
;
FRA2C
;
Partial 2p trisomy
刊名:Molecular Cytogenetics
出版年:2013
4.
Arthrogryposis in infancy, multidisciplinary approach: case report
作者:
Anna Binkiewicz-Glinska (1)
Agnieszka Sobierajska-Rek (1)
Stanislaw Bakula (1)
Jolanta
Wierzba
(2)
Konrad Drewek (3)
Ireneusz M Kowalski (4)
Katarzyna Zaborowska-Sapeta (4)
关键词:
Infant
;
Arthrogryposis
;
Rehabilitation
刊名:BMC Pediatrics
出版年:2013
5.
Haemophilia A associated with Down’s syndrome
作者:
Barbara Kaczorowska-Hac (1)
Marek Wlazlowski (1)
Jolanta
Wierzba
(1)
Anna Balcerska (1)
刊名:Annals of Hematology
出版年:2013
6.
Erratum to: Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome
作者:
Alina Kuzniacka (1)
Jolanta
Wierzba
(2)
Magdalena Ratajska (1)
Beata S. Lipska (1)
Magdalena Koczkowska (1)
Monika Malinowska (1)
Janusz Limon (1)
刊名:Journal of Applied Genetics
出版年:2013
7.
Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual
作者:
Jolanta
Wierzba
(1)
María Concepción Gil-Rodríguez (2)
Anna Polucha (3)
Beatriz Puisac (2)
María Arnedo (2)
María Esperanza Teresa-Rodrigo (2)
Dorota Winnicka (3)
Fausto G Hegardt (4)
Feliciano J Ramos (2)
Janusz Limon (5)
Juan Pié (2) (6)
关键词:
Cornelia de Lange syndrome
;
CdLS
;
NIPBL
;
Turner syndrome
;
TS
;
Monosomy X mosaicism
;
Mosaic 45
;
X/46
;
XX karyotype
刊名:BMC Medical Genetics
出版年:2012
8.
Abilities of development support in children with genetic syndromes. Experiences from annual integrational meetings
作者:
Alina T Midro (1)
Olga Haus
Krystyna Kobel-Buys
Jolanta
Wierzba
Stanis?aw Zaj?czek
刊名:Orphanet Journal of Rare Diseases
出版年:2010
9.
Subtle familial translocation t(11;22)(q24.2;q13.33) resulting in Jacobsen syndrome and distal trisomy 22q13.3: further details of genotype—phenotype maps
作者:
Aleksander Jamsheer (1) (2)
Marta Smyk (3)
Jolanta
Wierzba
(4)
Jolanta Ko?owska (1)
Anna Wo?niak (1)
Joanna Sko?o?drzy (1)
Maria Fischer (5)
Anna Latos-Bieleńska (1) (2)
关键词:
chromosomal translocation
;
Jacobsen syndrome
;
partial monosomy 11q24.2
;
partial trisomy 22q13.33
;
recurrent pregnancy loss
刊名:Journal of Applied Genetics
出版年:2008
1
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作者(9)
按出版年细分(9)
2017年(1)
2013年(5)
2012年(1)
2010年(1)
2008年(1)
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