Ewa Kostyk

Genetic counselling in carriers of reciprocal chromosomal translocations involving short arm of chromosome X

Barbara Panasiuk, Ruta Ušinskiené, Ewa Kostyk et al. · Annales de Génétique · 2004 · 86 citations

Chromatin, Chromosome Dynamics, Genetic Disorder +10

Genetic counseling in carriers of reciprocal chromosomal translocations involving long arm of chromosome 16

Beata Stasiewicz‐Jarocka, Olga Haus, E. Van Assche et al. · Clinical Genetics · 2004 · 82 citations

Unaffected patients with a homozygous absence of the SMN1 gene

Maria Jędrzejowska, Janina Borkowska, Janusz Zimowski et al. · European Journal of Human Genetics · 2008 · 60 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +7

Subtelomeric rearrangements: results from FISH studies in 84 families with idiopathic mental retardation.

Ewa Bocian, Zofia Hélias‐Rodzewicz, Kamila Suchenek et al. · PubMed · 2004 · 26 citations

Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3

Anna Kutkowska‐Kaźmierczak, Maria Boczar, Ewa Kalka et al. · Genes · 2021 · 15 citations · Full text