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Tsutsumi, Makiko
121  results:
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1

Maple syrup urine disease due to a paracentric inversion of..:

Yokoi, Katsuyuki ; Nakajima, Yoko ; Sudo, Yuta...
JIMD Reports.  63 (2022)  6 - p. 575-580 , 2022
Link: https://doi.org/10.1002/..
 
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2

Biallelic variants in LIG3 cause a novel mitochondrial neur..:

Bonora, Elena ; Chakrabarty, Sanjiban ; Kellaris, Georgios...
Brain.  144 (2021)  5 - p. 1451-1466 , 2021
Link: https://doi.org/10.1093/..
 
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3

Molecular analysis of low‐level mosaicism of the IKBKG muta..:

Kawai, Miki ; Kato, Takema ; Tsutsumi, Makiko...
Molecular Genetics & Genomic Medicine.  8 (2020)  12 - p. , 2020
Link: https://doi.org/10.1002/..
 
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4

An aggressive systemic mastocytosis preceded by ovarian dys..:

Tsutsumi, Makiko ; Miura, Hiroki ; Inagaki, Hidehito...
BMC Cancer.  20 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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5

A case of a parthenogenetic 46,XX/46,XY chimera presenting ..:

Kawamura, Rie ; Kato, Takema ; Miyai, Shunsuke...
Journal of Human Genetics.  65 (2020)  8 - p. 705-709 , 2020
Link: https://doi.org/10.1038/..
 
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6

Corrigendum to "Frequent intragenic microdeletions of elast..:

Hayano, Satoshi ; Okuno, Yusuke ; Tsutsumi, Makiko...
International Journal of Cardiology.  292 (2019)  - p. 283 , 2019
Link: https://doi.org/10.1016/..
 
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7

Frequent intragenic microdeletions of elastin in familial s..:

Hayano, Satoshi ; Okuno, Yusuke ; Tsutsumi, Makiko...
International Journal of Cardiology.  274 (2019)  - p. 290-295 , 2019
Link: https://doi.org/10.1016/..
 
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8

A female patient with retinoblastoma and severe intellectua..:

Tsutsumi, Makiko ; Hattori, Hiroyoshi ; Akita, Nobuhiro...
BMC Medical Genomics.  12 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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9

Two siblings with 11qter deletion syndrome that had been re..:

Kawai, Miki ; Tsutsumi, Makiko ; Suzuki, Fumihiko...
European Journal of Medical Genetics.  62 (2019)  3 - p. 224-228 , 2019
Link: https://doi.org/10.1016/..
 
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10

Exonic duplication of the OTC gene by a complex rearrangeme..:

Yokoi, Katsuyuki ; Nakajima, Yoko ; Inagaki, Hidehito...
BMC Medical Genetics.  19 (2018)  1 - p. , 2018
Link: https://doi.org/10.1186/..
 
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11

Potential role for nectin-4 in the pathogenesis of pre-ecla..:

Ito, Mayuko ; Nishizawa, Haruki ; Tsutsumi, Makiko...
BMC Medical Genetics.  19 (2018)  1 - p. , 2018
Link: https://doi.org/10.1186/..
 
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12

Palindrome-Mediated Translocations in Humans: A New Mechani..:

Inagaki, Hidehito ; Kato, Takema ; Tsutsumi, Makiko...
Frontiers in Genetics.  7 (2016)  - p. , 2016
Link: https://doi.org/10.3389/..
 
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13

Novel compound heterozygous variants in PLK4 identified in ..:

Tsutsumi, Makiko ; Yokoi, Setsuri ; Miya, Fuyuki...
European Journal of Human Genetics.  24 (2016)  12 - p. 1702-1706 , 2016
Link: https://doi.org/10.1038/..
 
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14

Identification of novel FATP4 mutations in a Japanese patie..:

Tsuge, Ikuya ; Morishita, Masashi ; Kato, Takema...
Human Genome Variation.  2 (2015)  1 - p. , 2015
Link: https://doi.org/10.1038/..
 
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15

TUBA1A mutation can cause a hydranencephaly-like severe for..:

Yokoi, Setsuri ; Ishihara, Naoko ; Miya, Fuyuki...
Scientific Reports.  5 (2015)  1 - p. , 2015
Link: https://doi.org/10.1038/..
 
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