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Yumi Enomoto
119  results:
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1

GPC4 truncating variant associated with Keipert syndrome an..:

Kuroda, Yukiko ; Uehara, Takeshi ; Enomoto, Yumi...
American Journal of Medical Genetics Part A.  , 2024
Link: https://doi.org/10.1002/..
 
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2

Noonan syndrome‐like phenotype associated with an ERF frame..:

Hirano, Yasuhiro ; Kuroda, Yukiko ; Enomoto, Yumi...
American Journal of Medical Genetics Part A.  , 2024
Link: https://doi.org/10.1002/..
 
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3

Two siblings with acute necrotizing encephalopathy associat..:

Uehara, Takeshi ; Seki, Eijun ; Nonoda, Yutaka...
American Journal of Medical Genetics Part A.  , 2024
Link: https://doi.org/10.1002/..
 
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4

P287: Wilms tumor in a patient with FBXW7-related neurodeve..:

Saito, Yoko ; Kuroda, Yukiko ; Keino, Dai...
Genetics in Medicine Open.  1 (2023)  1 - p. 100315 , 2023
Link: https://doi.org/10.1016/..
 
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5

P218: Case report: PHACE-like syndrome with TMEM260 compoun..:

Kuroda, Yukiko ; Enomoto, Yumi ; Saito, Yoko.
Genetics in Medicine Open.  1 (2023)  1 - p. 100246 , 2023
Link: https://doi.org/10.1016/..
 
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6

Nanopore long-read sequencing analysis reveals ZIC1 dysregu..:

Murakami, Hiroaki ; Enomoto, Yumi ; Kumaki, Tatsuro..
Journal of Human Genetics.  69 (2023)  1 - p. 47-52 , 2023
Link: https://doi.org/10.1038/..
 
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7

Genetic and clinical features of pediatric-onset hereditary..:

Ikeda, Azusa ; Kumaki, Tatsuro ; Tsuyusaki, Yu...
Frontiers in Neurology.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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8

A CAMK2B variant associated with tetralogy of Fallot, devel..:

Horii, Yuji ; Kuroda, Yukiko ; Saito, Yoko...
European Journal of Medical Genetics.  66 (2023)  10 - p. 104845 , 2023
Link: https://doi.org/10.1016/..
 
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9

The efficacy of a medium-chain triglyceride ketogenic diet ..:

Ikeda, Azusa ; Nagafuchi, Hiroyuki ; Enomoto, Yumi...
Seizure: European Journal of Epilepsy.  111 (2023)  - p. 103-105 , 2023
Link: https://doi.org/10.1016/..
 
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10

PHACES‐like syndrome with TMEM260 compound heterozygous var..:

Kuroda, Yukiko ; Saito, Yoko ; Enomoto, Yumi...
American Journal of Medical Genetics Part A.  191 (2023)  8 - p. 2215-2218 , 2023
Link: https://doi.org/10.1002/..
 
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11

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/..
 
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12

A Japanese patient with Teebi hypertelorism syndrome and a ..:

Kuroda, Yukiko ; Saito, Yoko ; Enomoto, Yumi..
American Journal of Medical Genetics Part A.  194 (2023)  1 - p. 94-99 , 2023
Link: https://doi.org/10.1002/..
 
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13

A de novo U2AF2 heterozygous variant associated with hypomy..:

Kuroda, Yukiko ; Matsufuji, Mayumi ; Enomoto, Yumi...
American Journal of Medical Genetics Part A.  191 (2023)  8 - p. 2245-2248 , 2023
Link: https://doi.org/10.1002/..
 
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14

A novel variant of ARPC4‐related neurodevelopmental disorde:

Kuroda, Yukiko ; Kumaki, Tatsuro ; Saito, Yoko...
American Journal of Medical Genetics Part A.  191 (2022)  3 - p. 893-895 , 2022
Link: https://doi.org/10.1002/..
 
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15

Further delineation of SET‐related intellectual disability ..:

Shono, Kenta ; Enomoto, Yumi ; Tsurusaki, Yoshinori...
American Journal of Medical Genetics Part A.  188 (2022)  5 - p. 1595-1599 , 2022
Link: https://doi.org/10.1002/..
 
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