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Genome Medicine|May 19, 2019
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome casesAvinash V Dharmadhikari, Rajarshi Ghosh, Bo Yuan, et al.
Human Mutation|September 18, 2010
Detection of clinically relevant exonic copy-number changes by array CGHPhilip M Boone, Carlos A Bacino, Chad A Shaw, et al.
Human Molecular Genetics|October 8, 2015
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problemsRaman Kumar, Mark A Corbett, Bregje W M Van Bon, et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences|April 11, 2019
Patterns of host use by brood parasitic Maculinea butterflies across EuropeAndrás Tartally, Jeremy A Thomas, Christian Anton, et al.
The Pediatric Infectious Disease Journal|April 13, 2023
The Influence of SARS-CoV-2 Variants B.1.1.7 and B.1.617.2 on a Different Clinical Course and Severity of COVID-19 in Children Hospitalized in 2021 Compared With 2020Maria Pokorska-Śpiewak, Ewa Talarek, Małgorzata Pawłowska, et al.
Journal of Clinical Medicine|April 13, 2023
Clinical Course and Severity of COVID-19 in 940 Infants with and without Comorbidities Hospitalized in 2020 and 2021: The Results of the National Multicenter Database SARSTer-PEDMałgorzata Pawłowska, Maria Pokorska-Śpiewak, Ewa Talarek, et al.
Contemporary Oncology (Poznan, Poland)|March 6, 2014
Assessment of real-world usage of lanreotide AUTOGEL 120 in Polish acromegalic patients - results from the prospective 12-month phase of Lanro-StudyEwa Orlewska, Beata Kos-Kudła, Jerzy Sowiński, et al.
Human Genetics|March 3, 2017
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic featuresJing Zhang, Tomasz Gambin, Bo Yuan, et al.
American Journal of Human Genetics|June 9, 2009
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformationsPaweł Stankiewicz, Partha Sen, Samarth S Bhatt, et al.
Endokrynologia Polska|March 12, 2025
Framework guidelines for the process of caring for the health of adolescent transgender (T) and non-binary (NB) people experiencing gender dysphoria - the position statement of the expert panelAneta Gawlik-Starzyk, Marta Dora, Dorota Baran, et al.
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