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Komlosi, Katalin
115  results:
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1

Erythrokeratodermia Variabilis-like Phenotype in Patients C..:

Hotz, Alrun ; Fölster-Holst, Regina ; Oji, Vinzenz...
Genes.  15 (2024)  3 - p. 288 , 2024
Link: https://doi.org/10.3390/..
 
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2

Obsessive–compulsive symptoms and 15q11.2q13.1 duplication ..:

Göbel, Theresa ; Maier, Alexander ; Schlump, Andrea...
European Neuropsychopharmacology.  78 (2024)  - p. 67-69 , 2024
Link: https://doi.org/10.1016/..
 
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3

Autosomal Dominant Lamellar Ichthyosis Due to a Missense Va..:

Komlosi, Katalin ; Glocker, Cristina ; Hsu-Rehder, Hao-Hsiang...
Journal of Investigative Dermatology.  , 2024
Link: https://doi.org/10.1016/..
 
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4

Mutational Spectrum of the ABCA12 Gene and Genotype–Phenoty..:

Hotz, Alrun ; Kopp, Julia ; Bourrat, Emmanuelle...
Genes.  14 (2023)  3 - p. 717 , 2023
Link: https://doi.org/10.3390/..
 
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5

Syndromic ichthyoses:

Fischer, Judith ; Hotz, Alrun ; Komlosi, Katalin
Medizinische Genetik.  35 (2023)  1 - p. 23-32 , 2023
Link: https://doi.org/10.1515/..
 
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6

Novel homozygous LAMB1 in‐frame deletion in a pediatric pat..:

Toutouna, Louiza ; Beck‐Woedl, Stefanie ; Feige, Ursula...
American Journal of Medical Genetics Part A.  191 (2023)  10 - p. 2656-2663 , 2023
Link: https://doi.org/10.1002/..
 
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7

Editorial: Copy Number Variation in Rare Disorders:

Komlósi, Katalin ; Gyenesei, Attila ; Bene, Judit
Frontiers in Genetics.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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8

Acral lamellar ichthyosis with amino acid substitution in t..:

Frommherz, Leonie ; Komlosi, Katalin ; Hewel, Charlotte...
Journal of the European Academy of Dermatology and Venereology.  37 (2022)  4 - p. 817-822 , 2022
Link: https://doi.org/10.1111/..
 
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9

Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyo..:

Komlosi, Katalin ; Claris, Olivier ; Collardeau-Frachon, Sophie...
Frontiers in Genetics.  12 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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10

Marfan Syndrome Caused by Disruption of the FBN1 Gene due t..:

Schnause, Anna Clara ; Komlosi, Katalin ; Herr, Barbara...
Genes.  12 (2021)  11 - p. 1836 , 2021
Link: https://doi.org/10.3390/..
 
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11

Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified ..:

Hotz, Alrun ; Kopp, Julia ; Bourrat, Emmanuelle...
Genes.  12 (2021)  1 - p. 80 , 2021
Link: https://doi.org/10.3390/..
 
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12

The Importance of Extended Analysis Using Current Molecular..:

Resch, Luise D. ; Hotz, Alrun ; Zimmer, Andreas D....
Genes.  12 (2021)  10 - p. 1483 , 2021
Link: https://doi.org/10.3390/..
 
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13

Heterotopic ossifications and Charcot joints: Congenital in..:

Gucev, Zoran ; Tasic, Velibor ; Bogevska, Ivona...
European Journal of Medical Genetics.  63 (2020)  1 - p. 103613 , 2020
Link: https://doi.org/10.1016/..
 
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14

New Cav1.2 Channelopathy with High-Functioning Autism, Affe..:

Endres, Dominique ; Decher, Niels ; Röhr, Isabell...
International Journal of Molecular Sciences.  21 (2020)  22 - p. 8611 , 2020
Link: https://doi.org/10.3390/..
 
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15

Neonatal presentation of COG6‐CDG with prominent skin pheno..:

Komlosi, Katalin ; Gläser, Selina ; Kopp, Julia...
JIMD Reports.  55 (2020)  1 - p. 51-58 , 2020
Link: https://doi.org/10.1002/..
 
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