Aleksandra Jezela-Stanek
Aleksandra Jezela-Stanek
M.D. Ph.D, clinical geneticist
Zweryfikowany adres z
Cytowane przez
Cytowane przez
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
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
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
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
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
Genetic causes of syndromic craniosynostoses
Jezela-Stanek A, Krajewska-Walasek M
Eur J Paediatr Neurol. 17 (3), 221-4, 2013
Angelman syndrome revisited
J Paprocka, E Jamroz, B Szwed-Bialozyt, A Jezela-Stanek, I Kopyta, ...
The neurologist 13 (5), 305-312, 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
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
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
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
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
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
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
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
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
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
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
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
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
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