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Lai, Abbe
24
results:
Search for persons
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Format
Online (22)
Print (2)
Mediatypes
Books (2)
Articles (Online) (10)
OpenAccess-fulltext (12)
Languages
german (2)
english (21)
Sorted by: Relevance
Sorted by: Year
?
1
P208: Insights into diagnostic yield and novel genetic etio..:
Lai, Abbe
;
Neil, Jennifer
;
Rodan, Lance
...
Genetics in Medicine Open. 2 (2024) - p. 101105 , 2024
Link:
https://doi.org/10.1016/..
?
2
Response to Horta et al:
Lai, Abbe
;
Soucy, Aubrie
;
Yang, Edward
..
Genetics in Medicine. , 2024
Link:
https://doi.org/10.1016/..
?
3
A recurrent de novo variant in NUSAP1 escapes nonsense‐medi..:
Mo, Alisa
;
Paz‐Ebstein, Emuna
;
Yanovsky‐Dagan, Shira
...
Clinical Genetics. 104 (2023) 1 - p. 73-80 , 2023
Link:
https://doi.org/10.1111/..
?
4
Delineation of a KDM2B-related neurodevelopmental disorder ..:
van Jaarsveld, Richard H.
;
Reilly, Jack
;
Cornips, Marie-Claire
...
Genetics in Medicine. 25 (2023) 1 - p. 49-62 , 2023
Link:
https://doi.org/10.1016/..
?
5
Impaired catabolism of free oligosaccharides due to MAN2C1 ..:
Maia, Nuno
;
Potelle, Sven
;
Yildirim, Hamide
...
The American Journal of Human Genetics. 109 (2022) 2 - p. 345-360 , 2022
Link:
https://doi.org/10.1016/..
?
6
Mendelian etiologies identified with whole exome sequencing..:
Chopra, Maya
;
Gable, Dustin L.
;
Love‐Nichols, Jamie
...
Annals of Clinical and Translational Neurology. 9 (2022) 2 - p. 193-205 , 2022
Link:
https://doi.org/10.1002/..
?
7
Loss of non-motor kinesin KIF26A causes congenital brain ma..:
Qian, Xuyu
;
DeGennaro, Ellen M.
;
Talukdar, Maya
...
Developmental Cell. 57 (2022) 20 - p. 2381-2396.e13 , 2022
Link:
https://doi.org/10.1016/..
?
8
The ClinGen Brain Malformation Variant Curation Expert Pane..:
Lai, Abbe
;
Soucy, Aubrie
;
El Achkar, Christelle Moufawad
...
Genetics in Medicine. 24 (2022) 11 - p. 2240-2248 , 2022
Link:
https://doi.org/10.1016/..
?
9
Posterior Neocortex-Specific Regulation of Neuronal Migrati..:
Kodani, Andrew
;
Kenny, Connor
;
Lai, Abbe
...
Neuron. 106 (2020) 2 - p. 246-255.e6 , 2020
Link:
https://doi.org/10.1016/..
?
10
Polymicrogyria is Associated With Pathogenic Variants in PT..:
Shao, Diane D.
;
Achkar, Christelle M.
;
Lai, Abbe
...
Annals of Neurology. 88 (2020) 6 - p. 1153-1164 , 2020
Link:
https://doi.org/10.1002/..
?
11
Exome Sequencing and the Identification of New Genes and Sh..:
Akula, Shyam K
;
Chen, Allen Y
;
Neil, Jennifer E
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10366952/. , 2023
Link:
http://www.ncbi.nlm.nih...
?
12
Delineation of a KDM2B-related neurodevelopmental disorder ..:
van Jaarsveld, Richard H
;
Reilly, Jack
;
Cornips, Marie Claire
...
https://research.rug.nl/en/publications/0fc76428-2e26-4b91-94b3-63a3514ac0d6. , 2023
Link:
https://hdl.handle.net/1..
?
13
Delineation of a KDM2B-related neurodevelopmental disorder ..:
van Jaarsveld, Richard H
;
Reilly, Jack
;
Cornips, Marie-Claire
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9825659/. , 2022
Link:
http://www.ncbi.nlm.nih...
?
14
Mendelian etiologies identified with whole exome sequencing..:
Chopra, Maya
;
Gable, Dustin L
;
Love‐Nichols, Jamie
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8862420/. , 2022
Link:
http://www.ncbi.nlm.nih...
?
15
Loss of non-motor kinesin KIF26A causes congenital brain ma..:
Qian, Xuyu
;
DeGennaro, Ellen
;
Talukdar, Maya
...
qt9rq571mk. , 2022
Link:
https://escholarship.org..
1-15
