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Developmental Period Medicine|August 11, 2017
A novel de novo 20q13.11q13.12 microdeletion in a boy with neurodevelopmental disorders - case reportJoanna Bernaciak, Barbara Wiśniowiecka-Kowalnik, Jennifer Castañeda, et al.
BMC Medical Genomics|August 22, 2018
Multiple occurrence of psychomotor retardation and recurrent miscarriages in a family with a submicroscopic reciprocal translocation t(7;17)(p22;p13.2)Magdalena Pasińska, Ewelina Łazarczyk, Katarzyna Jułga, et al.
Clinical Genetics|November 16, 2019
Null variants in AGRN cause lethal fetal akinesia deformation sequenceMaciej Geremek, Lech Dudarewicz, Ewa Obersztyn, et al.
Medycyna Wieku Rozwojowego|April 21, 2012
[Alpha-thalassemia/mental retardation syndrome (ATR-X) in two brothers - clinical characteristics, diagnostics and genetic counselling issues]Krzysztof Szczałuba, Ewa Obersztyn, Beata Nowakowska, et al.
Medycyna Wieku Rozwojowego|October 10, 2006
[Cytogenetic-molecular analysis of balanced chromosomal rearrangements in nine patients with intellectual disability, dysmorphic features and congenital abnormalities]Katarzyna Borg, Ewa Bocian, Pawel Stankiewicz, et al.
Journal of Applied Genetics|November 18, 2003
Is p53 intronic variant G13964C associated with predisposition to cancer?Łucja Fiszer-Maliszewska, Bernarda Kazanowska, Piotr Kuśnierczyk, et al.
Diagnostics (Basel, Switzerland)|April 23, 2022
Association between the Concentrations of Essential and Toxic Elements in Mid-Trimester Amniotic Fluid and Fetal Chromosomal Abnormalities in Pregnant Polish WomenJoanna Suliburska, Jakub Pankiewicz, Adam Sajnóg, et al.
Taiwanese Journal of Obstetrics & Gynecology|November 19, 2021
How does terminal 21q22 deletion really manifest? Delineation based on prenatal diagnosis and literature reviewMiroslaw Wielgos, Przemyslaw Kosinski, Piotr Jedrzejak, et al.
Prenatal Diagnosis|February 1, 2020
Prenatal diagnosis and clinical significance of cephalocele-A single institution experience and literature reviewSylwia Dąbkowska, Anna Kucińska-Chahwan, Anna Beneturska, et al.
Reproductive Biology and Endocrinology : RB&E|September 30, 2011
Weak association of anti-sperm antibodies and strong association of familial cryptorchidism/infertility with HLA-DRB1 polymorphisms in prepubertal Ukrainian boysMaciej Kurpisz, Andriy Nakonechnyy, Wanda Niepieklo-Miniewska, et al.
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