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Bartolomaeus, Tobias
44  results:
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1

Expanding SPTAN1 monoallelic variant associated disorders: ..:

Morsy, Heba ; Benkirane, Mehdi ; Cali, Elisa...
Genetics in Medicine.  25 (2023)  1 - p. 76-89 , 2023
Link: https://doi.org/10.1016/..
 
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2

Rare EIF4A2 variants are associated with a neurodevelopment..:

Paul, Maimuna S. ; Duncan, Anna R. ; Genetti, Casie A....
The American Journal of Human Genetics.  110 (2023)  1 - p. 120-145 , 2023
Link: https://doi.org/10.1016/..
 
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3

Re-evaluation and re-analysis of 152 research exomes five y..:

Bartolomaeus, Tobias ; Hentschel, Julia ; Jamra, Rami Abou.
European Journal of Human Genetics.  31 (2023)  10 - p. 1154-1164 , 2023
Link: https://doi.org/10.1038/..
 
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4

Evaluating the association of biallelic OGDHL variants with..:

Lin, Sheng-Jia ; Vona, Barbara ; Lau, Tracy...
Genome Medicine.  15 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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5

Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 I..:

Halfmeyer, Insa ; Bartolomaeus, Tobias ; Popp, Bernt...
Genes.  14 (2022)  1 - p. 30 , 2022
Link: https://doi.org/10.3390/..
 
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6

Altered gene expression profiles impair the nervous system ..:

Körner, Marek B. ; Velluva, Akhil ; Bundalian, Linnaeus...
Scientific Reports.  12 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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7

The constitutional gain‐of‐function variant p.Glu1099Lys in..:

Popp, Bernt ; Brugger, Melanie ; Poschmann, Sibylle...
Clinical Genetics.  103 (2022)  2 - p. 226-230 , 2022
Link: https://doi.org/10.1111/..
 
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8

Prenatal phenotype of PNKP-related primary microcephaly ass..:

Neuser, Sonja ; Krey, Ilona ; Schwan, Annemarie...
European Journal of Human Genetics.  30 (2021)  1 - p. 101-110 , 2021
Link: https://doi.org/10.1038/..
 
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9

RHOBTB2Mutations Expand the Phenotypic Spectrum of Alternat..:

Zagaglia, Sara ; Steel, Dora ; Krithika, S....
Neurology.  96 (2021)  11 - p. , 2021
Link: https://doi.org/10.1212/..
 
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10

The genetic landscape of intellectual disability and epilep..:

Zacher, Pia ; Mayer, Thomas ; Brandhoff, Frank...
Genetics in Medicine.  23 (2021)  8 - p. 1492-1497 , 2021
Link: https://doi.org/10.1038/..
 
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11

Genetic and phenotypic spectrum in the NONO‐associated synd..:

Roessler, Franziska ; Beck, Anita E. ; Susie, Ball...
American Journal of Medical Genetics Part A.  191 (2022)  2 - p. 469-478 , 2022
Link: https://doi.org/10.1002/..
 
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12

Evaluating the association of biallelic OGDHL variants with..:

Lin, Sheng-Jia ; Vona, Barbara ; Lau, Tracy...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10688095/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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13

Rare EIF4A2 variants are associated with a neurodevelopment..:

Paul, Maimuna S ; Duncan, Anna R ; Genetti, Casie A...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9892767/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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14

Evaluating the association of biallelic OGDHL variants with..:

Lin, Sheng-Jia ; Vona, Barbara ; Lau, Tracy...
https://discovery.ucl.ac.uk/id/eprint/10183213/1/s13073-023-01258-4.pdf.  , 2023
Link: https://discovery.ucl.ac..
 
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15

Rare EIF4A2 variants are associated with a neurodevelopment..:

Paul, Maimuna S ; Duncan, Anna R ; Genetti, Casie A...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10027494/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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