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Machol, K. (Keren)
36
results:
Search for persons
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Format
Online (36)
Mediatypes
Articles (Online) (26)
Bookchapter (Online) (2)
OpenAccess-fulltext (8)
Sorted by: Relevance
Sorted by: Year
?
1
Stretch-activated ion channel TMEM63B associates with devel..:
Vetro, Annalisa
;
Pelorosso, Cristiana
;
Balestrini, Simona
...
The American Journal of Human Genetics. 110 (2023) 8 - p. 1356-1376 , 2023
Link:
https://doi.org/10.1016/..
?
2
Deficient histone H3 propionylation by BRPF1-KAT6 complexes..:
Yan, K. (Kezhi)
;
Rousseau, J. (Justine)
;
Machol, K. (Keren)
...
http://repub.eur.nl/pub/124458. , 2020
Link:
http://repub.eur.nl/pub/..
?
3
FOXI3 pathogenic variants cause one form of craniofacial mi..:
Mao, Ke
;
Borel, Christelle
;
Ansar, Muhammad
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10090152/. , 2023
Link:
http://www.ncbi.nlm.nih...
?
4
Stretch-activated ion channel TMEM63B associates with devel..:
Vetro, Annalisa
;
Pelorosso, Cristiana
;
Balestrini, Simona
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10432263/. , 2023
Link:
http://www.ncbi.nlm.nih...
?
5
FOXI3 pathogenic variants cause one form of craniofacial mi..:
Ke Mao
;
Christelle Borel
;
Muhammad Ansar
...
https://doi.org/10.1038/s41467-023-37703-6. , 2023
Link:
https://doi.org/10.1038/..
?
6
Gain and loss of TASK3 channel function and its regulation ..:
Cousin, Margot A
;
Veale, Emma L
;
Dsouza, Nikita R
...
https://kar.kent.ac.uk/95466/1/Cousin%20et%20al%202022.pdf. , 2022
Link:
https://kar.kent.ac.uk/9..
?
7
Gain and loss of TASK3 channel function and its regulation ..:
Margot A. Cousin
;
Emma L. Veale
;
Nikita R. Dsouza
...
https://doi.org/10.1186/s13073-022-01064-4. , 2022
Link:
https://doi.org/10.1186/..
?
8
Gain and loss of TASK3 channel function and its regulation ..:
Cousin, Margot A
;
Veale, Emma L
;
Dsouza, Nikita R
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9195326/. , 2022
Link:
http://www.ncbi.nlm.nih...
?
9
Atypical Alexander disease with dystonia, retinopathy, and ..:
Machol, Keren
;
Jankovic, Joseph
;
Vijayakumar, Dhanya
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6055357/. , 2018
Link:
http://www.ncbi.nlm.nih...
?
10
A case of congenital diaphragmatic hernia and kleefstra syn..:
Zayek, A
;
Holmes, A
;
Moshe, Y Ben
...
The American Journal of the Medical Sciences. 367 (2024) - p. S20 , 2024
Link:
https://doi.org/10.1016/..
?
11
The clinical utility and diagnostic implementation of human..:
Li, Shenglan
;
Zhao, Sen
;
Sinson, Jefferson C.
...
The American Journal of Human Genetics. 111 (2024) 5 - p. 841-862 , 2024
Link:
https://doi.org/10.1016/..
?
12
Expanded clinical phenotype and untargeted metabolomics ana..:
Walimbe, Ameya S.
;
Machol, Keren
;
Kralik, Stephen F.
...
BMC Neurology. 24 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1186/..
?
13
P701: Novel presentation of dextrocardia in TGIF1-related h..:
Thornton, Casey
;
Owen, Nichole
;
Mizerik, Elizabeth
...
Genetics in Medicine Open. 2 (2024) - p. 101605 , 2024
Link:
https://doi.org/10.1016/..
?
14
P381: Rare mechanisms causing UPD(14)pat and UPD(14)mat:
Waskow, Emily
;
Mizerik, Elizabeth
;
Owen, Nichole
...
Genetics in Medicine Open. 2 (2024) - p. 101275 , 2024
Link:
https://doi.org/10.1016/..
?
15
P050: Biallelic variants in POLG2 provides a rare molecular..:
Rossi, Vittoria
;
Brooks, Dan
;
Dai, Hongzheng
...
Genetics in Medicine Open. 2 (2024) - p. 100927 , 2024
Link:
https://doi.org/10.1016/..
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