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Mitani, Tadahiro
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Online (70)
Mediatypes
Articles (Online) (34)
OpenAccess-fulltext (36)
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1
An Unusual Pediatric Case of an Insidious Thermal Airway In..:
Ohashi, Ayaka
;
Matsubara, Daisuke
;
Mizobe, Yoshitaka
...
Journal of Burn Care & Research. 45 (2024) 3 - p. 805-807 , 2024
Link:
https://doi.org/10.1093/..
?
2
The impact of the Turkish population variome on the genomic..:
Coban-Akdemir, Zeynep
;
Song, Xiaofei
;
Ceballos, Francisco C.
...
Genetics in Medicine Open. 2 (2024) - p. 101830 , 2024
Link:
https://doi.org/10.1016/..
?
3
Monoallelic variation in DHX9, the gene encoding the DExH-b..:
Calame, Daniel G.
;
Guo, Tianyu
;
Wang, Chen
...
The American Journal of Human Genetics. 110 (2023) 8 - p. 1394-1413 , 2023
Link:
https://doi.org/10.1016/..
?
4
Brain monoamine vesicular transport disease caused by homoz..:
Saida, Ken
;
Maroofian, Reza
;
Sengoku, Toru
...
Genetics in Medicine. 25 (2023) 1 - p. 90-102 , 2023
Link:
https://doi.org/10.1016/..
?
5
Biallelic missense variants in COG3 cause a congenital diso..:
Duan, Ruizhi
;
Marafi, Dana
;
Xia, Zhi‐Jie
...
Journal of Inherited Metabolic Disease. 46 (2023) 6 - p. 1195-1205 , 2023
Link:
https://doi.org/10.1002/..
?
6
A biallelic frameshift indel in PPP1R35 as a cause of prima..:
Dawood, Moez
;
Akay, Gulsen
;
Mitani, Tadahiro
...
American Journal of Medical Genetics Part A. 191 (2023) 3 - p. 794-804 , 2023
Link:
https://doi.org/10.1002/..
?
7
Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, e..:
Faqeih, Eissa A.
;
Alghamdi, Malak Ali
;
Almahroos, Marwa A.
...
Genetics in Medicine. 25 (2023) 2 - p. 100323 , 2023
Link:
https://doi.org/10.1016/..
?
8
Novel dominant and recessive variants in human ROBO1 cause ..:
Huang, Yan
;
Ma, Mengqi
;
Mao, Xiao
...
Human Molecular Genetics. 31 (2022) 16 - p. 2751-2765 , 2022
Link:
https://doi.org/10.1093/..
?
9
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/..
?
10
Bi-allelic CAMSAP1 variants cause a clinically recognizable..:
Khalaf-Nazzal, Reham
;
Fasham, James
;
Inskeep, Katherine A.
...
The American Journal of Human Genetics. 109 (2022) 11 - p. 2068-2079 , 2022
Link:
https://doi.org/10.1016/..
?
11
A reverse genetics and genomics approach to gene paralog fu..:
Marafi, Dana
;
Kozar, Nina
;
Duan, Ruizhi
...
The American Journal of Human Genetics. 109 (2022) 9 - p. 1713-1723 , 2022
Link:
https://doi.org/10.1016/..
?
12
Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B ..:
Taşdelen, Elifcan
;
Calame, Daniel G.
;
Akay, Gulsen
...
American Journal of Medical Genetics Part A. 188 (2022) 7 - p. 2153-2161 , 2022
Link:
https://doi.org/10.1002/..
?
13
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a C..:
Calame, Daniel G.
;
Herman, Isabella
;
Maroofian, Reza
...
Annals of Neurology. 92 (2022) 2 - p. 304-321 , 2022
Link:
https://doi.org/10.1002/..
?
14
Bi-allelic loss-of-function variants in the splicing regula..:
Calame, Daniel
;
Bakhtiari, Somayeh
;
Mitani, Tadahiro
...
Neurology. 96 (2021) 15_supplement - p. , 2021
Link:
https://doi.org/10.1212/..
?
15
Multilocus pathogenic variation in ZC4H2, MUSK, CAPN3, and ..:
Herman, Isabella
;
Marafi, Dana
;
Abdelsalam, Ghada
...
Neurology. 96 (2021) 15_supplement - p. , 2021
Link:
https://doi.org/10.1212/..
1-15