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Szakszon, Katalin
53  results:
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1

DNA methylation episignature and comparative epigenomic pro..:

van der Laan, Liselot ; Lauffer, Peter ; Rooney, Kathleen...
Human Genetics and Genomics Advances.  5 (2024)  3 - p. 100289 , 2024
Link: https://doi.org/10.1016/..
 
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2

Chromosomal breakage tests in the differential diagnosis of..:

Farkas, Gyöngyi ; Székely, Gábor ; Goda, Veronika...
European Journal of Haematology.  111 (2023)  2 - p. 254-262 , 2023
Link: https://doi.org/10.1111/..
 
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3

Helsmoortel–Van der Aa Syndrome—Cardiothoracic and Ectoderm..:

Szabó, Tímea Margit ; Balogh, István ; Ujfalusi, Anikó...
Genes.  13 (2022)  12 - p. 2367 , 2022
Link: https://doi.org/10.3390/..
 
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4

Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case ..:

Kozma, Kinga ; Bembea, Marius ; Jurca, Claudia M....
Genes.  12 (2021)  11 - p. 1674 , 2021
Link: https://doi.org/10.3390/..
 
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5

Four New Cases of Hypomyelinating Leukodystrophy Associated..:

Szűcs, Zsuzsanna ; Fitala, Réka ; Nyuzó, Ágnes Renáta...
Genes.  12 (2021)  9 - p. 1331 , 2021
Link: https://doi.org/10.3390/..
 
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6

Correlation of GAA Genotype and Acid-α-Glucosidase Enzyme A..:

Gal, Aniko ; Grosz, Zoltán ; Borsos, Beata...
Life.  11 (2021)  6 - p. 507 , 2021
Link: https://doi.org/10.3390/..
 
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7

A novel splice site indel alteration in the EIF2AK3 gene is..:

Sümegi, Andrea ; Hendrik, Zoltán ; Gáll, Tamás...
BMC Medical Genetics.  21 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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8

PRIM1 deficiency causes a distinctive primordial dwarfism s..:

Parry, David A. ; Tamayo-Orrego, Lukas ; Carroll, Paula...
Genes & Development.  34 (2020)  21-22 - p. 1520-1533 , 2020
Link: https://doi.org/10.1101/..
 
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9

Copy number variants detection by microarray and multiplex ..:

Nagy, Orsolya ; Szakszon, Katalin ; Biró, Brigitta Orsolya...
Journal of Biotechnology.  299 (2019)  - p. 86-95 , 2019
Link: https://doi.org/10.1016/..
 
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10

FBN1 gene mutations in 26 Hungarian patients with suspected..:

Madar, László ; Szakszon, Katalin ; Pfliegler, György...
Journal of Biotechnology.  301 (2019)  - p. 105-111 , 2019
Link: https://doi.org/10.1016/..
 
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11

Analyses of LMNA-negative juvenile progeroid cases confirms..:

Lessel, Davor ; Ozel, Ayse Bilge ; Campbell, Susan E....
Human Genetics.  137 (2018)  11-12 - p. 921-939 , 2018
Link: https://doi.org/10.1007/..
 
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12

Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations ..:

Yilmaz, Rüstem ; Szakszon, Katalin ; Altmann, Anna...
American Journal of Medical Genetics Part A.  176 (2017)  1 - p. 187-193 , 2017
Link: https://doi.org/10.1002/..
 
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13

Clinical and genetic characteristics of craniosynostosis in..:

Bessenyei, Beáta ; Nagy, Andrea ; Szakszon, Katalin...
American Journal of Medical Genetics Part A.  167 (2015)  12 - p. 2985-2991 , 2015
Link: https://doi.org/10.1002/..
 
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14

A recurrent synonymous KAT6B mutation causes Say‐Barber‐Bie..:

Yilmaz, Rüstem ; Beleza‐Meireles, Ana ; Price, Susan...
American Journal of Medical Genetics Part A.  167 (2015)  12 - p. 3006-3010 , 2015
Link: https://doi.org/10.1002/..
 
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15

Variable expressivity of pfeiffer syndrome in a family with..:

Bessenyei, Beáta ; Tihanyi, Mariann ; Hartwig, Marianna..
American Journal of Medical Genetics Part A.  164 (2014)  12 - p. 3176-3179 , 2014
Link: https://doi.org/10.1002/..
 
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