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Śmigiel, Robert
251
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Online (251)
Mediatypes
Articles (Online) (92)
Bookchapter (Online) (2)
OpenAccess-fulltext (157)
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?
1
From Genotype to Phenotype of Polish Patients with Pitt–Hop..:
Telenga, Marlena
;
Rozensztrauch, Anna
;
Giżewska-Kacprzak, Kaja
.
Journal of Clinical Medicine. 13 (2024) 9 - p. 2605 , 2024
Link:
https://doi.org/10.3390/..
?
2
Further Delineation of Clinical Phenotype of ZMYND11 Varian..:
Bodetko, Aleksandra
;
Chrzanowska, Joanna
;
Rydzanicz, Malgorzata
...
Genes. 15 (2024) 2 - p. 256 , 2024
Link:
https://doi.org/10.3390/..
?
3
SMC1A epilepsy syndrome: clinical data from a large interna..:
Gibellato, Elisabetta
;
Cianci, Paola
;
Mariani, Milena
...
American Journal of Medical Genetics Part A. 194 (2024) 7 - p. , 2024
Link:
https://doi.org/10.1002/..
?
4
Clinical and molecular characteristics of Kabuki syndrome p..:
Boniel, Snir
;
Krajewska, Maria
;
Pyrżak, Beata
...
Frontiers in Genetics. 15 (2024) - p. , 2024
Link:
https://doi.org/10.3389/..
?
5
Epigenetic Findings in Twins with Esophageal Atresia:
Błoch, Michal
;
Gasperowicz, Piotr
;
Gerus, Sylwester
...
Genes. 14 (2023) 9 - p. 1822 , 2023
Link:
https://doi.org/10.3390/..
?
6
A novel non‐recurrent CNV deletion involving TBX4 and leavi..:
Bzdęga, Katarzyna
;
Biela, Mateusz
;
Deutsch, Gail H.
...
Clinical Genetics. 105 (2023) 2 - p. 190-195 , 2023
Link:
https://doi.org/10.1111/..
?
7
Expanding the Knowledge of KIF1A-Dependent Disorders to a G..:
Paprocka, Justyna
;
Jezela-Stanek, Aleksandra
;
Śmigiel, Robert
...
Genes. 14 (2023) 5 - p. 972 , 2023
Link:
https://doi.org/10.3390/..
?
8
Health-related quality of life and family functioning of pr..:
Rozensztrauch, Anna
;
Wieczorek, Karolina
;
Twardak, Iwona
.
Frontiers in Psychiatry. 14 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
?
9
Health-Related Quality of Life and Family Functioning of Pr..:
Rozensztrauch, Anna
;
Dzien, Izabela
;
Śmigiel, Robert
Journal of Clinical Medicine. 12 (2023) 5 - p. 1769 , 2023
Link:
https://doi.org/10.3390/..
?
10
Expression Quantitative Trait Methylation Analysis Identifi..:
Krzyzewska, Izabela M.
;
Lauffer, Peter
;
Mul, Adri N.
...
International Journal of Molecular Sciences. 24 (2023) 7 - p. 6601 , 2023
Link:
https://doi.org/10.3390/..
?
11
Further Delineation of Developmental Delay with Gastrointes..:
Biela, Mateusz
;
Rydzanicz, Malgorzata
;
Jankowska, Agnieszka
...
Genes. 13 (2022) 2 - p. 168 , 2022
Link:
https://doi.org/10.3390/..
?
12
De NovoATP1A1Variants in an Early-Onset Complex Neurodevelo..:
Dohrn, Maike F.
;
Rebelo, Adriana P.
;
Srivastava, Siddharth
...
Neurology. 98 (2022) 11 - p. 440-445 , 2022
Link:
https://doi.org/10.1212/..
?
13
iPSC-derived myelinoids to study myelin biology of humans:
James, Owen G.
;
Selvaraj, Bhuvaneish T.
;
Magnani, Dario
...
Developmental Cell. 57 (2022) 1 - p. 146 , 2022
Link:
https://doi.org/10.1016/..
?
14
Reliability and Validity of the Polish Version of the Esoph..:
Rozensztrauch, Anna
;
Śmigiel, Robert
;
Patkowski, Dariusz
...
International Journal of Environmental Research and Public Health. 19 (2022) 13 - p. 8047 , 2022
Link:
https://doi.org/10.3390/..
?
15
Prenatal Diagnosis of Jeune Syndrome Caused by Compound Het..:
Stembalska, Agnieszka
;
Rydzanicz, Małgorzata
;
Klaniewska, Magdalena
...
Genes. 13 (2022) 8 - p. 1339 , 2022
Link:
https://doi.org/10.3390/..
1-15