1. A novel biallelic splice‐site variant in the LRP4 gene causes sclerosteosis 2. Issue 9 (14th April 2020) Authors: Bukowska‐Olech, Ewelina; Sowińska‐Seidler, Anna; Szczałuba, Krzysztof; Jamsheer, Aleksander Journal: Birth defects research Issue: Volume 112:Issue 9(2020) Page Start: 652 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. Compound craniosynostosis, intellectual disability, and Noonan‐like facial dysmorphism associated with 7q32.3‐q35 deletion. Issue 10 (11th June 2020) Authors: Bukowska‐Olech, Ewelina; Dmitrzak‐Węglarz, Monika; Larysz, Dawid; Wojciechowicz, Bartosz; Simon, Dorota; Walczak‐Sztulpa, Joanna; Jamsheer, Aleksander Other Names: Watanabe Michiko guestEditor. Journal: Birth defects research Issue: Volume 112:Issue 10(2020) Page Start: 740 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. Issue 2 (6th December 2011) Authors: Klopocki, Eva; Lohan, Silke; Doelken, Sandra C; Stricker, Sigmar; Ockeloen, Charlotte W; Soares Thiele de Aguiar, Renata; Lezirovitz, Karina; Mingroni Netto, Regina Celia; Jamsheer, Aleksander; Shah, Hitesh; Kurth, Ingo; Habenicht, Rolf; Warman, Matthew; Devriendt, Koenraad; Kordaß, Ulrike; Hempe... Journal: Journal of medical genetics Issue: Volume 49:Issue 2(2012) Page Start: 119 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
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. 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) ↗
8. Genotype-phenotype correlation in clubfoot (talipes equinovarus). Issue 3 (15th November 2021) Authors: Hordyjewska-Kowalczyk, Ewa; Nowosad, Karol; Jamsheer, Aleksander; Tylzanowski, Przemko Journal: Journal of medical genetics Issue: Volume 59:Issue 3(2022) Page Start: 209 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Heterozygous DLX5 nonsense mutation associated with isolated split‐hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families. Issue 10 (5th September 2014) Authors: Sowińska‐Seidler, Anna; Badura‐Stronka, Magdalena; Latos‐Bieleńska, Anna; Stronka, Michał; Jamsheer, Aleksander Journal: Birth defects research Issue: Volume 100:Issue 10(2014:Oct.) Page Start: 764 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. 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) ↗