1. Altered vitamin D metabolic system in follicular cysts of sows. Issue 1 (3rd December 2020) Authors: Grzesiak, Malgorzata; Socha, Magdalena; Hrabia, Anna Journal: Reproduction in domestic animals Issue: Volume 56:Issue 1(2021) Page Start: 193 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Altered vitamin D metabolic system in follicular cysts of sows. Issue 1 (3rd December 2020) Authors: Grzesiak, Malgorzata; Socha, Magdalena; Hrabia, Anna Journal: Reproduction in domestic animals Issue: Volume 56:Issue 1(2021) Page Start: 193 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations. Issue 4 (14th November 2017) Authors: Walczak‐Sztulpa, Joanna; Wawrocka, Anna; Swiader‐Lesniak, Anna; Socha, Magdalena; Jamsheer, Aleksander; Drozdz, Dorota; Latos‐Bielenska, Anna; Zachwieja, Katarzyna Journal: Birth defects research Issue: Volume 110:Issue 4(2018) Page Start: 376 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia. Issue 5 (31st July 2019) Authors: Hordyjewska‐Kowalczyk, Ewa; Sowińska‐Seidler, Anna; Olech, Ewelina M.; Socha, Magdalena; Glazar, Renata; Kruczek, Anna; Latos‐Bieleńska, Anna; Tylzanowski, Przemko; Jamsheer, Aleksander Journal: Clinical genetics Issue: Volume 96:Issue 5(2019) Page Start: 429 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Further evidence for FGF16 truncating mutations as the cause of X‐linked recessive fusion of metacarpals 4 / 5. Issue 4 (7th April 2014) Authors: Jamsheer, Aleksander; Śmigiel, Robert; Jakubiak, Aleksandra; Zemojtel, Tomasz; Socha, Magdalena; Robinson, Peter N.; Mundlos, Stefan Journal: Birth defects research Issue: Volume 100:Issue 4(2014:Apr.) Page Start: 314 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Further evidence for FGF16 truncating mutations as the cause of X‐linked recessive fusion of metacarpals 4 / 5. Issue 4 (7th April 2014) Authors: Jamsheer, Aleksander; Śmigiel, Robert; Jakubiak, Aleksandra; Zemojtel, Tomasz; Socha, Magdalena; Robinson, Peter N.; Mundlos, Stefan Journal: Birth defects research Issue: Volume 100:Issue 4(2014:Apr.) Page Start: 314 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Homozygous microdeletion in the 11p13 region in the patient with isolated form of aniridia: New challenges in the genetic diagnostics of aniridia. Issue 2 (12th November 2021) Authors: Wawrocka, Anna; Walczak‐Sztulpa, Joanna; Socha, Magdalena; Kuszel, Lukasz; Sowinska‐Seidler, Anna; Budny, Bartlomiej; Bukowska‐Olech, Ewelina; Pilas‐Pomykalska, Magdalena; Jamsheer, Aleksander; Krawczynski, Maciej R. Journal: American journal of medical genetics Issue: Volume 188:Issue 2(2022) Page Start: 642 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Impact of long‐term dietary exposure to lead on some reproductive parameters of a female Common carp (Cyprinus carpio L.). (6th August 2015) Authors: Sionkowski, Jan; Łuszczek‐Trojnar, Ewa; Popek, Włodzimierz; Drąg‐Kozak, Ewa; Socha, Magdalena Journal: Aquaculture research Issue: Volume 48:Number 1(2017) Page Start: 111 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Prenatal diagnosis of Fraser syndrome using routine ultrasound examination, confirmed by exome sequencing: Report of a novel homozygous missense FRAS1 mutation. (January 2017) Authors: Kornacki, Jakub; Sowińska‐Seidler, Anna; Socha, Magdalena; Ropacka, Mariola; Jamsheer, Aleksander Journal: Congenital anomalies Issue: Volume 57:Number 1(2017) Page Start: 37 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion. Issue 9 (24th May 2013) Authors: Jamsheer, Aleksander; Zemojtel, Tomasz; Kolanczyk, Mateusz; Stricker, Sigmar; Hecht, Jochen; Krawitz, Peter; Doelken, Sandra C; Glazar, Renata; Socha, Magdalena; Mundlos, Stefan Journal: Journal of medical genetics Issue: Volume 50:Issue 9(2013) Page Start: 579 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗