| Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients. C Prattichizzo, M Macca, V Novelli, G Giorgio, A Barra, B Franco, ... Hum Mutat. 29 (10), 1237-46, 2008 | 90 | 2008 |
| Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP A Van Dijck, AT Vulto-van Silfhout, E Cappuyns, IM van der Werf, ... Biological psychiatry 85 (4), 287-297, 2019 | 53 | 2019 |
| Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis—The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes A Jezela-Stanek, E Ciara, D Piekutowska-Abramczuk, J Trubicka, ... European Journal of Paediatric Neurology 20 (3), 462-473, 2016 | 34 | 2016 |
| DHCR7 mutations and genotype–phenotype correlation in 37 Polish patients with Smith–Lemli–Opitz syndrome E Ciara, MJM Nowaczyk, M Witsch‐Baumgartner, E Malunowicz, ... Clinical genetics 66 (6), 517-524, 2004 | 34 | 2004 |
| Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome M Bauer, U Kölsch, R Krüger, N Unterwalder, K Hameister, FM Kaiser, ... Journal of clinical immunology 35 (2), 168-181, 2015 | 25 | 2015 |
| Genetic causes of syndromic craniosynostoses Jezela-Stanek A, Krajewska-Walasek M Eur J Paediatr Neurol. 17 (3), 221-4, 2013 | 25 | 2013 |
| Angelman syndrome revisited J Paprocka, E Jamroz, B Szwed-Bialozyt, A Jezela-Stanek, I Kopyta, ... The neurologist 13 (5), 305-312, 2007 | 22 | 2007 |
| Maternal urinary steroid profiles in prenatal diagnosis of Smith–Lemli–Opitz syndrome: first patient series comparing biochemical and molecular studies A Jezela‐Stanek, EM Małunowicz, E Ciara, E Popowska, ... Clinical genetics 69 (1), 77-85, 2006 | 21 | 2006 |
| Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies R Acuna-Hidalgo, P Deriziotis, M Steehouwer, C Gilissen, SA Graham, ... PLoS genetics 13 (3), e1006683, 2017 | 19 | 2017 |
| Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature A Jezela-Stanek, E Ciara, EM Malunowicz, L Korniszewski, ... European journal of medical genetics 51 (2), 124-140, 2008 | 17 | 2008 |
| Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene. M Krajewska-Walasek, D Jurkiewicz, D Piekutowska-Abramczuk, ... American journal of medical genetics. Part A 170 (6), 1647-1650, 2016 | 15 | 2016 |
| Differences between predicted and established diagnoses of Smith‐Lemli‐Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses? A Jezela‐Stanek, E Ciara, E Małunowicz, K Chrzanowska, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2010 | 15 | 2010 |
| Four novel RSK2 mutations in females with Coffin–Lowry syndrome D Jurkiewicz, A Jezela-Stanek, E Ciara, D Piekutowska-Abramczuk, ... European journal of medical genetics 53 (5), 268-273, 2010 | 15 | 2010 |
| Hereditary neuropathy with liability to pressure palsy. J Paprocka, M Kajor, E Jamroz, A Jezela-Stanek, P Seeman, E Marszał Folia Neuropathol. 44 (4), 290-4., 2006 | 14 | 2006 |
| Malan syndrome (Sotos syndrome 2) in two patients with 19p13. 2 deletion encompassing NFIX gene and novel NFIX sequence variant A Jezela-Stanek, M Kucharczyk, K Falana, D Jurkiewicz, M Mlynek, ... Biomedical Papers 160 (1), 161-167, 2016 | 13 | 2016 |
| X-linked α thalassaemia/mental retardation syndrome: a case with gonadal dysgenesis, caused by a novel mutation in ATRX gene A Jezela-Stanek, C Fisher, M Szarras-Czapnik, D Olczak-Kowalczyk, ... Clinical dysmorphology 18 (3), 168-171, 2009 | 8 | 2009 |
| A novel PANK2 gene mutation: clinical and molecular characteristics of patients short communication B Kazek, E Jamroz, M Gencik, A Jezela Stanek, E Marszał, ... J Child Neurol. 22 (11), 1256-9, 2007 | 8 | 2007 |
| Pulmonary involvement in selected lysosomal storage diseases and the impact of enzyme replacement therapy: A state‐of‐the art review A Jezela‐Stanek, J Chorostowska‐Wynimko, A Tylki‐Szymańska The clinical respiratory journal 14 (5), 422-429, 2020 | 7 | 2020 |
| Trisomy 22pter-q12. 3 presenting with hepatic dysfunction variability of cat-eye syndrome A Jezela-Stanek, A Dobrzanska, D Maksym-Gasiorek, W Trzeciakowski, ... Clinical dysmorphology 18 (1), 13-17, 2009 | 7 | 2009 |
| Polish activity within Orphanet Europe--state of art of database and services. A Jezela-Stanek, D Karczmarewicz, KH Chrzanowska, ... Developmental period medicine 19 (4), 536-541, 2015 | 6 | 2015 |
John S. WayeProfessor of Pathology & Molecular MedicineZweryfikowany adres z hhsc.ca
