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X
Martinez-Agosto, Julian
143  Ergebnisse:
OpenAccess-Volltexte X
Personensuche X
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1

Spliceosome malfunction causes neurodevelopmental disorders..:

Li, Dong ; Wang, Qin ; Bayat, Allan...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10760965/.  , 2024
Link: http://www.ncbi.nlm.nih...
 
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2

Elucidating the clinical and molecular spectrum of SMARCC2-..:

Bosch, Elisabeth ; Popp, Bernt ; Güse, Esther...
https://research.rug.nl/en/publications/eab0ba2a-eda7-42fc-bc42-e9859dc89f35.  , 2023
Link: https://hdl.handle.net/1..
 
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3

Outcomes of two different unbalanced segregations from a ma..:

Fan, Judith ; Senaratne, T Niroshini ; Liu, Jason Y...
qt2hc7k5zw.  , 2023
Link: https://escholarship.org..
 
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4

Bi-allelic LETM1 variants perturb mitochondrial ion homeost..:

Kaiyrzhanov, Rauan ; Mohammed, Sami E.M ; Maroofian, Reza...
https://www.sciencedirect.com/science/article/pii/S0002929722003111?via%3Dihub.  , 2023
Link: http://hdl.handle.net/10..
 
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5

Outcomes of two different unbalanced segregations from a ma..:

Fan, Judith ; Senaratne, T. Niroshini ; Liu, Jason Y...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10061865/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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6

Characterization of spastic paraplegia in a family with a n..:

Ringman, John M ; Dorrani, Naghmeh ; Fernández, Sara Gutiérrez...
qt5gf9j48k.  , 2023
Link: https://escholarship.org..
 
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7

Ethical challenges in autism genomics: Recommendations for ..:

Natri, Heini M ; Chapman, Carolyn R ; Heraty, Síofra...
qt1qb4g2s8.  , 2023
Link: https://escholarship.org..
 
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8

Longitudinal neurobehavioral profiles in children and young..:

Busch, Robyn M ; Frazier II, Thomas W ; Sonneborn, Claire...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9840250/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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9

Bi-allelic LETM1 variants perturb mitochondrial ion homeost..:

Kaiyrzhanov, Rauan ; Mohammed, Sami E M ; Maroofian, Reza...
info:eu-repo/semantics/altIdentifier/pmid/36055214.  , 2022
Link: http://hdl.handle.net/24..
 
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10

The Autism Intervention Research Network on Physical Health..:

Kuo, Alice A ; Hotez, Emily ; Rosenau, Kashia A...
qt5199v51j.  , 2022
Link: https://escholarship.org..
 
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11

Variant-specific changes in RAC3 function disrupt corticoge..:

Scala, Marcello ; Nishikawa, Masashi ; Ito, Hidenori...
Brain.  , 2022
Link: https://ddd.uab.cat/reco..
 
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12

Variant-specific changes in RAC3 function disrupt corticoge..:

Scala, Marcello ; Nishikawa, Masashi ; Ito, Hidenori...
qt6xw4z6x0.  , 2022
Link: https://escholarship.org..
 
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13

Mosaic de novo SNRPN gene variant associated with Prader-Wi..:

Huang, Yue ; Grand, Katheryn ; Kimonis, Virginia...
qt2k99x00b.  , 2022
Link: https://escholarship.org..
 
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14

Bi-allelic LETM1 variants perturb mitochondrial ion homeost..:

Kaiyrzhanov, Rauan ; Mohammed, Sami EM ; Maroofian, Reza...
https://discovery.ucl.ac.uk/id/eprint/10155215/1/Bi-allelic%20LETM1%20variants%20perturb%20mitochondrial%20ion%20homeostasis.pdf.  , 2022
Link: https://discovery.ucl.ac..
 
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15

The Autism Intervention Research Network on Physical Health..:

Kuo, Alice A ; Hotez, Emily ; Rosenau, Kashia A...
qt9pz779kn.  , 2022
Link: https://escholarship.org..
 
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