Aleksandra Pietrzyk

Simpson–Golabi–Behmel syndrome in a 39‐year‐old male patient with suspected acromegaly—A case study

A. Syrenicz, L. Sagan, Danuta Lietz-Kijak, 2018, American journal of medical genetics. Part A.

A new family with spastic paraplegia type 51 and novel mutations in AP4E1

A. Sobczyńska-Tomaszewska, M. Lejman, P. Miotła, 2021, BMC Medical Genomics.

Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly

E. Obersztyn, E. Jamroz, W. Wiszniewski, 2021, Genes.

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

E. Obersztyn, R. Płoski, A. Barczyk, 2021, Genes.

Single Nucleotide Polymorphisms of Interleukins and Toll-like Receptors and Neuroimaging Results in Newborns with Congenital HCMV Infection

E. Jurkiewicz, J. Czech-Kowalska, B. Kasztelewicz, 2021, Viruses.

Prenatal diagnosis of Langer-Giedion Syndrome confirmed by BACs-on-Beads technique.

S. Zajączek, J. Węgrzynowski, Aleksandra Pietrzyk, 2014, Ginekologia polska.

Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome

E. Zackai, B. Wiśniowiecka-Kowalnik, M. Smyk, 2023, Genes.

Evaluation of Microfluidics-FISH method in prenatal diagnosis.

J. Gronwald, M. Bryśkiewicz, S. Zajączek, 2017, Ginekologia polska.

The Limitations of Cytomegalovirus DNA Detection in Cerebrospinal Fluid of Newborn Infants With Congenital CMV Infection: A Tertiary Care Neonatal Center Experience

D. Gruszfeld, D. Dunin-Wasowicz, A. Dobrzańska, 2021, The Pediatric infectious disease journal.

New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism

A. Gach, L. Jakubowski, A. Sakowicz, 2020, Archives of medical science : AMS.

Antiviral treatment in congenital HCMV infection: The six-year experience of a single neonatal center in Poland.

D. Gruszfeld, A. Dobrzańska, B. Kasztelewicz, 2020, Advances in clinical and experimental medicine : official organ Wroclaw Medical University.