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Tarailo‐Graovac, Maja
132
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Online (132)
Mediatypes
Articles (Online) (61)
OpenAccess-fulltext (71)
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1
Identification of a mosaic MTOR variant in purified neurona..:
Klein, Karl Martin
;
Mascarenhas, Rumika
;
Merrikh, Daria
...
Epilepsia. 65 (2024) 6 - p. 1768-1776 , 2024
Link:
https://doi.org/10.1111/..
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2
A novel FAME1 repeat configuration in a European family ide..:
Maroilley, Tatiana
;
Tsai, Meng‐Han
;
Mascarenhas, Rumika
...
Epilepsia Open. 8 (2023) 2 - p. 659-665 , 2023
Link:
https://doi.org/10.1002/..
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3
De novo pathogenic DNM1L variant in a patient diagnosed wit..:
Tarailo‐Graovac, Maja
;
Zahir, Farah R.
;
Zivkovic, Irena
...
Molecular Genetics & Genomic Medicine. 7 (2019) 10 - p. , 2019
Link:
https://doi.org/10.1002/..
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4
Integration of genomics and metabolomics for prioritization..:
Graham, Emma
;
Lee, Jessica
;
Price, Magda
...
Journal of Inherited Metabolic Disease. 41 (2018) 3 - p. 435-445 , 2018
Link:
https://doi.org/10.1007/..
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5
The role of the clinician in the multi‐omics era: are you r..:
van Karnebeek, Clara D. M.
;
Wortmann, Saskia B.
;
Tarailo‐Graovac, Maja
...
Journal of Inherited Metabolic Disease. 41 (2018) 3 - p. 571-582 , 2018
Link:
https://doi.org/10.1007/..
?
6
SimPEL: Simulation‐based power estimation for sequencing st..:
Mak, Lauren
;
Li, Minghao
;
Cao, Chen
...
Genetic Epidemiology. 42 (2018) 5 - p. 480-487 , 2018
Link:
https://doi.org/10.1002/..
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7
A girl with developmental delay, ataxia, cranial nerve pals..:
Armstrong, Linlea
;
Tarailo‐Graovac, Maja
;
Sinclair, Graham
...
American Journal of Medical Genetics Part A. 173 (2017) 3 - p. 712-715 , 2017
Link:
https://doi.org/10.1002/..
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8
Clinical delineation of the PACS1‐related syndrome—Report o..:
Schuurs‐Hoeijmakers, Janneke H. M.
;
Landsverk, Megan L.
;
Foulds, Nicola
...
American Journal of Medical Genetics Part A. 170 (2016) 3 - p. 670-675 , 2016
Link:
https://doi.org/10.1002/..
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9
Using RepeatMasker to Identify Repetitive Elements in Genom..:
Tarailo‐Graovac, Maja
;
Chen, Nansheng
Current Protocols in Bioinformatics. 25 (2009) 1 - p. , 2009
Link:
https://doi.org/10.1002/..
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10
212 Human ASXL1 Deficiency Causes Epigenetic Dysfunction, C..:
Fu, Maggie
;
Sharma, Mehul
;
Yousefi, Pariya
...
Clinical Immunology. 262 (2024) - p. 110154 , 2024
Link:
https://doi.org/10.1016/..
?
11
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phen..:
van Karnebeek, Clara D.M.
;
Tarailo-Graovac, Maja
;
Leen, René
...
Genetics in Medicine. 26 (2024) 6 - p. 101104 , 2024
Link:
https://doi.org/10.1016/..
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12
Single variant, yet "double trouble": TSC and KBG syndrome ..:
Rodrigues Alves Barbosa, Victoria
;
Maroilley, Tatiana
;
Diao, Catherine
...
Life Science Alliance. 7 (2024) 4 - p. e202302115 , 2024
Link:
https://doi.org/10.26508..
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13
GPAD: a natural language processing-based application to ex..:
Rahit, K. M. Tahsin Hassan
;
Avramovic, Vladimir
;
Chong, Jessica X.
.
BMC Bioinformatics. 25 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1186/..
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14
The critical role of the iron–sulfur cluster and CTC compon..:
Li, Xiao
;
Perdomo, Ivette Maria Menendez
;
Rodrigues Alves Barbosa, Victoria
..
Nucleic Acids Research. , 2024
Link:
https://doi.org/10.1093/..
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15
The Power of Clinical Diagnosis for Deciphering Complex Gen..:
Shu, Li
;
Maroilley, Tatiana
;
Tarailo-Graovac, Maja
Genes. 14 (2023) 1 - p. 196 , 2023
Link:
https://doi.org/10.3390/..
1-15