E-LIB Suche - Ergebnisse für: Sasai, Hideo

1

Metaphyseal anadysplasia type 1: Familial and regressive ri..:

Matsumoto, Hideki ; Hori, Tomohiro ; Mori, Mai...
Pediatrics International. 66 (2024) 1 - p. , 2024

Link: https://doi.org/10.1111/..

2

Loss‐of‐function polymorphisms in NQO1 are not associated w..:

Matsumoto, Hideki ; Sasai, Hideo ; Kawamoto, Norio...
Molecular Genetics & Genomic Medicine. 12 (2024) 6 - p. , 2024

Link: https://doi.org/10.1002/..

3

Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of..:

Tajima, Go ; Aisaki, Junko ; Hara, Keiichi...
International Journal of Neonatal Screening. 10 (2024) 1 - p. 15 , 2024

Link: https://doi.org/10.3390/..

4

Newborn Screening with (C16 + C18:1)/C2 and C14/C3 for Carn..:

Tajima, Go ; Hara, Keiichi ; Tsumura, Miyuki...
International Journal of Neonatal Screening. 9 (2023) 4 - p. 62 , 2023

Link: https://doi.org/10.3390/..

5

Exome-wide benchmark of difficult-to-sequence regions using..:

Hijikata, Atsushi ; Suyama, Mikita ; Kikugawa, Shingo...
Nucleic Acids Research. 52 (2023) 1 - p. 114-124 , 2023

Link: https://doi.org/10.1093/..

6

Novel ITPA variants identified by whole genome sequencing a..:

Omichi, Nanako ; Kishita, Yoshihito ; Nakama, Mina...
Journal of Human Genetics. 68 (2023) 9 - p. 649-652 , 2023

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

7

Clinical manifestation and long‐term outcome of citrin defi..:

Kido, Jun ; Häberle, Johannes ; Sugawara, Keishin...
Journal of Inherited Metabolic Disease. 45 (2022) 3 - p. 431-444 , 2022

Link: https://doi.org/10.1002/..

8

A case of VEXAS syndrome (vacuoles, E1 enzyme, X-linked, au..:

Tozaki, Nagie ; Tawada, Chisato ; Niwa, Hirofumi...
Frontiers in Medicine. 9 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

9

Immediate postnatal central hypothyroidism caused by matern..:

Tochibora, Saho ; Hori, Tomohiro ; Mori, Mai...
Clinical Case Reports. 10 (2022) 7 - p. , 2022

Link: https://doi.org/10.1002/..

10

A case of endomyocardial biopsy-proven early stage cardiac ..:

Kanamori, Hiromitsu ; Yoshida, Akihiro ; Sasai, Hideo...
Cardiovascular Pathology. 60 (2022) - p. 107453 , 2022

Link: https://doi.org/10.1016/..

11

MCAD deficiency caused by compound heterozygous pathogenic ..:

Nohara, Fumikatsu ; Tajima, Go ; Sasai, Hideo.
Human Genome Variation. 9 (2022) 1 - p. , 2022

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

12

The frequencies of very long-chain acyl-CoA dehydrogenase d..:

Osawa, Yoshimitsu ; Kobayashi, Hironori ; Tajima, Go...
Molecular Genetics and Metabolism. 136 (2022) 1 - p. 74-79 , 2022

Link: https://doi.org/10.1016/..

13

A female patient with GSD IXc developing multiple and recur..:

Kido, Jun ; Mitsubuchi, Hiroshi ; Watanabe, Takehisa...
Human Genome Variation. 8 (2021) 1 - p. , 2021

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

14

A short sequence within AluSx induces downstream exon skipp..:

Nakama, Mina ; Otsuka, Hiroki ; Sasai, Hideo..
All Life. 14 (2021) 1 - p. 869-873 , 2021

Link: https://doi.org/10.1080/..

15

Current Perspectives on Neonatal Screening for Propionic Ac..:

Tajima, Go ; Kagawa, Reiko ; Sakura, Fumiaki...
International Journal of Neonatal Screening. 7 (2021) 3 - p. 35 , 2021

Link: https://doi.org/10.3390/..