E-LIB Suche - Ergebnisse für: Mitani, Tadahiro

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

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/..

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

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/..

6

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/..

7

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/..

8

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/..

9

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/..

10

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/..

11

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/..

12

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/..

13

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/..

14

Biallelic loss-of-function variants in the splicing regulat..:

Calame, Daniel G. ; Bakhtiari, Somayeh ; Logan, Rachel...
Genetics in Medicine. 23 (2021) 12 - p. 2455-2460 , 2021

Link: https://doi.org/10.1038/..

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/..