E-LIB Suche - Ergebnisse für: Anna, Latos‐Bielenska

1

Clinical heterogeneity of polish patients with KAT6B–relate..:

Magdalena, Klaniewska ; Anna, Bolanowska‐Tyszko ; Anna, Latos‐Bielenska...
Molecular Genetics & Genomic Medicine. 11 (2023) 12 - p. , 2023

Link: https://doi.org/10.1002/..

2

Rare malformation syndromes in polish registry of congenita..:

Anna, Latos-Bielenska ; Anna, Materna-Kiryluk ; Katarzyna, Wisniewska...
European Journal of Medical Genetics. 61 (2018) 9 - p. 566 , 2018

Link: https://doi.org/10.1016/..

3

Amniotic band syndrome and limb body wall complex in Europe..:

Bergman, Jorieke E. H. ; Barišić, Ingeborg ; Addor, Marie‐Claude...
American Journal of Medical Genetics Part A. 191 (2022) 4 - p. 995-1006 , 2022

Link: https://doi.org/10.1002/..

4

WDR35 variants in a cranioectodermal dysplasia patient with..:

Walczak‐Sztulpa, Joanna ; Wawrocka, Anna ; Sikora, Weronika...
American Journal of Medical Genetics Part A. 188 (2022) 10 - p. 3071-3077 , 2022

Link: https://doi.org/10.1002/..

5

FINCA syndrome—Defining neurobehavioral phenotype in surviv..:

Badura‐Stronka, Magdalena ; Śmigiel, Robert ; Rutkowska, Karolina...
Molecular Genetics & Genomic Medicine. 10 (2022) 4 - p. , 2022

Link: https://doi.org/10.1002/..

6

Interfamilial clinical variability in four Polish families ..:

Walczak‐Sztulpa, Joanna ; Wawrocka, Anna ; Stańczyk, Małgorzata...
American Journal of Medical Genetics Part A. 185 (2021) 4 - p. 1195-1203 , 2021

Link: https://doi.org/10.1002/..

7

Maternal risk factors for the VACTERL association: A EUROCA..:

van de Putte, Romy ; van Rooij, Iris A.L.M. ; Haanappel, Cynthia P....
Birth Defects Research. 112 (2020) 9 - p. 688-698 , 2020

Link: https://doi.org/10.1002/..

8

Prenatal genetic diagnosis of cranioectodermal dysplasia in..:

Walczak‐Sztulpa, Joanna ; Wawrocka, Anna ; Leszczynska, Beata...
American Journal of Medical Genetics Part A. 182 (2020) 10 - p. 2417-2425 , 2020

Link: https://doi.org/10.1002/..

9

Functional analysis of novel RUNX2 mutations identified in ..:

Hordyjewska‐Kowalczyk, Ewa ; Sowińska‐Seidler, Anna ; Olech, Ewelina M....
Clinical Genetics. 96 (2019) 5 - p. 429-438 , 2019

Link: https://doi.org/10.1111/..

10

Intrafamilial phenotypic variability in a Polish family wit..:

Walczak‐Sztulpa, Joanna ; Wawrocka, Anna ; Sobierajewicz, Agata...
American Journal of Medical Genetics Part A. 173 (2017) 5 - p. 1364-1368 , 2017

Link: https://doi.org/10.1002/..

11

EUROmediCAT signal detection: a systematic method for ident..:

Luteijn, Johannes M. ; Morris, Joan K. ; Garne, Ester...
British Journal of Clinical Pharmacology. 82 (2016) 4 - p. 1110-1122 , 2016

Link: https://doi.org/10.1111/..

12

EUROmediCAT signal detection: an evaluation of selected con..:

Given, Joanne E. ; Loane, Maria ; Luteijn, Johannes M....
British Journal of Clinical Pharmacology. 82 (2016) 4 - p. 1094-1109 , 2016

Link: https://doi.org/10.1111/..

13

Major congenital anomalies in babies born with Down syndrom..:

Morris, Joan K. ; Garne, Ester ; Wellesley, Diana...
American Journal of Medical Genetics Part A. 164 (2014) 12 - p. 2979-2986 , 2014

Link: https://doi.org/10.1002/..

14

Fraser Syndrome: Epidemiological Study in a European Popula..:

Barisic, Ingeborg ; Odak, Ljubica ; Loane, Maria...
American Journal of Medical Genetics Part A. 161 (2013) 5 - p. 1012-1018 , 2013

Link: https://doi.org/10.1002/..

15

Differences between predicted and established diagnoses of ..:

Jezela‐Stanek, Aleksandra ; Ciara, Elżbieta ; Małunowicz, Ewa...
Journal of Inherited Metabolic Disease. 33 (2010) S3 - p. 241-248 , 2010

Link: https://doi.org/10.1007/..