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Anna Kutkowska-Kaźmierczak
81  results:
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1

Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrom..:

Freud, Lindsay R. ; Galloway, Stephanie ; Crowley, T. Blaine...
American Journal of Obstetrics and Gynecology.  230 (2024)  3 - p. 368.e1-368.e12 , 2024
Link: https://doi.org/10.1016/..
 
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2

A Study of Polish Family with Scoliosis and Limb Contractur..:

Frasuńska, Justyna ; Pollak, Agnieszka ; Turczyn, Paweł...
Genes.  15 (2024)  1 - p. 125 , 2024
Link: https://doi.org/10.3390/..
 
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3

Coexisting Conditions Modifying Phenotypes of Patients with..:

Smyk, Marta ; Geremek, Maciej ; Ziemkiewicz, Kamila...
Genes.  14 (2023)  3 - p. 680 , 2023
Link: https://doi.org/10.3390/..
 
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4

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/..
 
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5

Prenatal Detection of a FOXF1 Deletion in a Fetus with ACDM..:

Bzdęga, Katarzyna ; Kutkowska-Kaźmierczak, Anna ; Deutsch, Gail H....
Genes.  14 (2023)  3 - p. 563 , 2023
Link: https://doi.org/10.3390/..
 
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6

De Novo ACTG1 Variant Expands the Phenotype and Genotype of..:

Dawidziuk, Mateusz ; Kutkowska-Kazmierczak, Anna ; Bukowska-Olech, Ewelina...
International Journal of Molecular Sciences.  23 (2022)  2 - p. 692 , 2022
Link: https://doi.org/10.3390/..
 
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7

Implementation of Exome Sequencing in Prenatal Diagnosis an..:

Kucińska-Chahwan, Anna ; Geremek, Maciej ; Roszkowski, Tomasz...
Genes.  13 (2022)  5 - p. 724 , 2022
Link: https://doi.org/10.3390/..
 
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8

Comparative Genomic Hybridization to Microarrays in Fetuses..:

Kowalczyk, Katarzyna ; Bartnik-Głaska, Magdalena ; Smyk, Marta...
Genes.  13 (2022)  4 - p. 690 , 2022
Link: https://doi.org/10.3390/..
 
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9

Immune Dysregulation in Patients With Chromosome 18q Deleti..:

Hogendorf, Anna ; Zieliński, Maciej ; Constantinou, Maria...
Frontiers in Immunology.  12 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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10

Clinical characteristics of Polish patients with molecularl..:

Jakubiak, Aleksandra ; Szczałuba, Krzysztof ; Badura-Stronka, Magdalena...
Journal of Applied Genetics.  , 2021
Link: https://doi.org/10.1007/..
 
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11

Prenatal Diagnosis by Array Comparative Genomic Hybridizati..:

Kowalczyk, Katarzyna ; Bartnik-Głaska, Magdalena ; Smyk, Marta...
Genes.  12 (2021)  12 - p. 2021 , 2021
Link: https://doi.org/10.3390/..
 
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12

Exome Sequencing Reveals Novel Variants and Expands the Gen..:

Dawidziuk, Mateusz ; Gambin, Tomasz ; Bukowska-Olech, Ewelina...
Genes.  12 (2021)  12 - p. 2014 , 2021
Link: https://doi.org/10.3390/..
 
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13

Wide Fontanels, Delayed Speech Development and Hoarse Voice..:

Kutkowska-Kaźmierczak, Anna ; Boczar, Maria ; Kalka, Ewa...
Genes.  12 (2021)  8 - p. 1257 , 2021
Link: https://doi.org/10.3390/..
 
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14

Correction to: Craniosynostosis as a clinical and diagnosti..:

Kutkowska-Kaźmierczak, Anna ; Gos, Monika ; Obersztyn, Ewa
Journal of Applied Genetics.  59 (2018)  2 - p. 149-150 , 2018
Link: https://doi.org/10.1007/..
 
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15

Craniosynostosis as a clinical and diagnostic problem: mole..:

Kutkowska-Kaźmierczak, Anna ; Gos, Monika ; Obersztyn, Ewa
Journal of Applied Genetics.  59 (2018)  2 - p. 133-147 , 2018
Link: https://doi.org/10.1007/..
 
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