Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review

di Bukowska-Olech, Ewelina, Sowińska-Seidler, Anna, Łojek, Filip, Popiel, Delfina, Walczak-Sztulpa, Joanna, Jamsheer, Aleksander
Pubblicato in J Appl Genet (2020)

Correction to: Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review

di Bukowska-Olech, Ewelina, Sowińska-Seidler, Anna, Łojek, Filip, Popiel, Delfina, Walczak-Sztulpa, Joanna, Jamsheer, Aleksander
Pubblicato in J Appl Genet (2020)

The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings

di Sowińska-Seidler, Anna, Sztromwasser, Paweł, Zawadzka, Katarzyna, Sielski, Dawid, Bukowska-Olech, Ewelina, Zawadzki, Paweł, Kozłowski, Kazimierz, Jamsheer, Aleksander
Pubblicato in Front Genet (2020)

Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene

di Bukowska-Olech, Ewelina, Gawliński, Paweł, Jakubiuk-Tomaszuk, Anna, Jędrzejowska, Maria, Obersztyn, Ewa, Piechota, Michał, Bielska, Marta, Jamsheer, Aleksander
Pubblicato in Orphanet J Rare Dis (2021)

Adapting SureSelect enrichment protocol to the Ion Torrent S5 platform in molecular diagnostics of craniosynostosis

di Bukowska-Olech, Ewelina, Popiel, Delfina, Koczyk, Grzegorz, Sowińska-Seidler, Anna, Socha, Magdalena, Wojciechowicz, Bartosz, Dawidziuk, Adam, Larysz, Dawid, Jamsheer, Aleksander
Pubblicato in Sci Rep (2020)

Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses

di Bukowska-Olech, Ewelina, Materna-Kiryluk, Anna, Walczak-Sztulpa, Joanna, Popiel, Delfina, Badura-Stronka, Magdalena, Koczyk, Grzegorz, Dawidziuk, Adam, Jamsheer, Aleksander
Pubblicato in Front Genet (2020)

Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease

di Walczak-Sztulpa, Joanna, Posmyk, Renata, Bukowska-Olech, Ewelina M., Wawrocka, Anna, Jamsheer, Aleksander, Oud, Machteld M., Schmidts, Miriam, Arts, Heleen H., Latos-Bielenska, Anna, Wasilewska, Anna
Pubblicato in Orphanet J Rare Dis (2020)

Novel Mutations Within Collagen Alpha1(I) and Alpha2(I) Ligand-Binding Sites, Broadening the Spectrum of Osteogenesis Imperfecta – Current Insights Into Collagen Type I Lethal Regi...

di Sałacińska, Kinga, Pinkier, Iwona, Rutkowska, Lena, Chlebna-Sokół, Danuta, Jakubowska-Pietkiewicz, Elżbieta, Michałus, Izabela, Kępczyński, Łukasz, Salachna, Dominik, Jamsheer, Aleksander, Bukowska-Olech, Ewelina, Jaszczuk, Ilona, Jakubowski, Lucjusz, Gach, Agnieszka
Pubblicato in Front Genet (2021)

SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD)

di Budny, Bartlomiej, Zemojtel, Tomasz, Kaluzna, Malgorzata, Gut, Pawel, Niedziela, Marek, Obara-Moszynska, Monika, Rabska-Pietrzak, Barbara, Karmelita-Katulska, Katarzyna, Stajgis, Marek, Ambroziak, Urszula, Bednarczuk, Tomasz, Wrotkowska, Elzbieta, Bukowska-Olech, Ewelina, Jamsheer, Aleksander, Ruchala, Marek, Ziemnicka, Katarzyna
Pubblicato in Front Endocrinol (Lausanne) (2020)

Transcriptome Changes in Three Brain Regions during Chronic Lithium Administration in the Rat Models of Mania and Depression

di Szczepankiewicz, Dawid, Celichowski, Piotr, Kołodziejski, Paweł A., Pruszyńska-Oszmałek, Ewa, Sassek, Maciej, Zakowicz, Przemysław, Banach, Ewa, Langwiński, Wojciech, Sakrajda, Kosma, Nowakowska, Joanna, Socha, Magdalena, Bukowska-Olech, Ewelina, Pawlak, Joanna, Twarowska-Hauser, Joanna, Nogowski, Leszek, Rybakowski, Janusz K., Szczepankiewicz, Aleksandra
Pubblicato in Int J Mol Sci (2021)