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Molecular Cytogenetics|January 8, 2016
Monoallelic and biallelic deletions of 13q14 in a group of CLL/SLL patients investigated by CGH Haematological Cancer and SNP array (8x60K)Beata Grygalewicz, Renata Woroniecka, Jolanta Rygier, et al.
European Journal of Medical Genetics|April 6, 2018
Phenotypic consequences of gene disruption by a balanced de novo translocation involving SLC6A1 and NAA15Karolina Pesz, Victor Murcia Pienkowski, Agnieszka Pollak, et al.
Developmental Period Medicine|September 4, 2014
The usefulness of array comparative genomic hybridization in clinical diagnostics of intellectual disability in childrenMagdalena Bartnik, Barbara Wiśniowiecka-Kowalnik, Beata Nowakowska, et al.
Molecular Cytogenetics|March 16, 2021
A placental trisomy 2 detected by NIPT evolved in a fetal small Supernumerary Marker Chromosome (sSMC)Justyna Domaradzka, Marta Deperas, Ewa Obersztyn, et al.
European Journal of Human Genetics : EJHG|October 4, 2012
Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disordersBarbara Wiśniowiecka-Kowalnik, Monika Kastory-Bronowska, Magdalena Bartnik, et al.
Medycyna Wieku Rozwojowego|February 5, 2013
Assessment of the role of copy-number variants in 150 patients with congenital heart defectsKatarzyna Derwińska, Magdalena Bartnik, Barbara Wiśniowiecka-Kowalnik, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 5, 2011
Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two femalesMagdalena Bartnik, Katarzyna Derwińska, Monika Gos, et al.
Journal of Assisted Reproduction and Genetics|January 26, 2022
Application of array comparative genomic hybridization (aCGH) for identification of chromosomal aberrations in the recurrent pregnancy lossKatarzyna Kowalczyk, Marta Smyk, Magdalena Bartnik-Głaska, et al.
Journal of Mother and Child|April 30, 2021
The <i>MED13L</i> haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981*)Mateusz Dawidziuk, Anna Kutkowska-Kaźmierczak, Paweł Gawliński, et al.
Journal of Applied Genetics|December 4, 2013
Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disabilityMagdalena Bartnik, Beata Nowakowska, Katarzyna Derwińska, et al.
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