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Geremek, Maciej
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1

P217: Abnormalities of TBX1 result in broad overlapping fea..:

McDonald-McGinn, Donna ; Giunta, Victoria ; Crowley, T. Blaine...
Genetics in Medicine Open.  2 (2024)  - p. 101114 , 2024
Link: https://doi.org/10.1016/..
 
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2

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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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

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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5

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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6

Deep Learning-Based Analysis of Face Images as a Screening ..:

Geremek, Maciej ; Szklanny, Krzysztof
Sensors.  21 (2021)  19 - p. 6595 , 2021
Link: https://doi.org/10.3390/..
 
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7

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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8

The matter of significance – Has the p.(Glu121Lys) variant ..:

Milanowski, Łukasz ; Hoffman-Zacharska, Dorota ; Geremek, Maciej...
Journal of Clinical Neuroscience.  72 (2020)  - p. 501-503 , 2020
Link: https://doi.org/10.1016/..
 
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9

Pathogenic variants in CDC45 on the remaining allele in pat..:

Unolt, Marta ; Kammoun, Molka ; Nowakowska, Beata...
Genetics in Medicine.  22 (2020)  2 - p. 326-335 , 2020
Link: https://doi.org/10.1038/..
 
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10

Null variants in AGRN cause lethal fetal akinesia deformati..:

Geremek, Maciej ; Dudarewicz, Lech ; Obersztyn, Ewa...
Clinical Genetics.  97 (2019)  4 - p. 634-638 , 2019
Link: https://doi.org/10.1111/..
 
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11

Response to energy stress in fibroblasts from patients with..:

Malinska, Dominika ; Geremek, Maciej ; Szczepanowska, Joanna..
Biochimica et Biophysica Acta (BBA) - Bioenergetics.  1857 (2016)  - p. e106 , 2016
Link: https://doi.org/10.1016/..
 
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12

Ciliary Genes Are Down-Regulated in Bronchial Tissue of Pri..:

Geremek, Maciej ; Ziętkiewicz, Ewa ; Bruinenberg, Marcel...
PLoS ONE.  9 (2014)  2 - p. e88216 , 2014
Link: https://doi.org/10.1371/..
 
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13

RPGR mutations might cause reduced orientation of respirato..:

Bukowy‐Bieryłło, Zuzanna ; Ziętkiewicz, Ewa ; Loges, Niki Tomas...
Pediatric Pulmonology.  48 (2012)  4 - p. 352-363 , 2012
Link: https://doi.org/10.1002/..
 
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14

Gene expression studies in cells from primary ciliary dyski..:

Geremek, Maciej ; Bruinenberg, Marcel ; Ziętkiewicz, Ewa...
Human Genetics.  129 (2010)  3 - p. 283-293 , 2010
Link: https://doi.org/10.1007/..
 
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15

A5814G Mutation in Mitochondrial DNA Can Cause Mitochondria..:

Karadimas, Charalampos ; Tanji, Kurenai ; Geremek, Maciej...
Journal Of Child Neurology.  16 (2001)  7 - p. 522 , 2001
Link: https://doi.org/10.2310/..
 
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