نتائج البحث - "Naruto, Takuya"

1

Academic Journal

Subtle phenotypes of Mowat–Wilson syndrome in a patient with a novel ZEB2 C‐ZF domain variant.

المؤلفون: Kuroda, Yukiko, Naruto, Takuya, Kurosawa, Kenji

المصدر: American Journal of Medical Genetics. Part A; Dec2024, Vol. 194 Issue 12, p1-4, 4p

2

Academic Journal

Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing

المساهمون: Kazusa DNA Research Institute, Medical Research Centre Initiative for High Depth Omics at Kyushu University

المصدر: Nucleic Acids Research ; volume 52, issue 1, page 114-124 ; ISSN 0305-1048 1362-4962

الاتاحة: http://dx.doi.org/10.1093/nar/gkad1140
https://academic.oup.com/nar/article-pdf/52/1/114/55448560/gkad1140.pdf

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3

Academic Journal

P287: Wilms tumor in a patient with FBXW7-related neurodevelopmental syndrome

المؤلفون: Saito, Yoko, Kuroda, Yukiko, Keino, Dai, Enomoto, Yumi, Naruto, Takuya, Yanagimachi, Masakatsu, Kurosawa, Kenji

المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100315 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2023.100315
https://api.elsevier.com/content/article/PII:S2949774423003151?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774423003151?httpAccept=text/plain

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4

Academic Journal

Safety, efficacy and pharmacokinetics of palivizumab in off-label neonates, infants, and young children at risk for serious respiratory syncytial virus infection: a multicenter phase II clinical trial

المؤلفون: Mori, Masaaki, Yoshizaki, Kanako, Watabe, Shinichi, Ishige, Mika, Hinoki, Akinari, Kondo, Takuya, Taguchi, Tomoaki, Hasegawa, Hisaya, Hatata, Tomoko, Tanuma, Naoyuki, Kirino, Kosuke, Hirakawa, Akihiro, Naruto, Takuya, Imai, Minoru, Koike, Ryuji, Hosoi, Kenichiro, Kusuda, Satoshi

المساهمون: Japan Agency for Medical Research and Development

المصدر: The Lancet Regional Health - Western Pacific ; volume 39, page 100847 ; ISSN 2666-6065

الاتاحة: http://dx.doi.org/10.1016/j.lanwpc.2023.100847
https://api.elsevier.com/content/article/PII:S2666606523001657?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2666606523001657?httpAccept=text/plain

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5

Periodical

Biallelic TXNDC15variants associated with Joubert syndrome-related molar tooth sign and forebrain malformation

المؤلفون: Kuroda, Yukiko, Ikegawa, Tamaki, Kato, Ayumi, Aida, Noriko, Naruto, Takuya, Kurosawa, Kenji

المصدر: Journal of Human Genetics; January 2025, Vol. 70 Issue: 1 p59-62, 4p

6

Academic Journal

GPC4 truncating variant associated with Keipert syndrome and lacrimal punctal agenesis.

المؤلفون: Kuroda, Yukiko, Uehara, Takeshi, Enomoto, Yumi, Naruto, Takuya, Matsumura, Nozomi, Kurosawa, Kenji

المصدر: American Journal of Medical Genetics. Part A; Nov2024, Vol. 194 Issue 11, p1-5, 5p

7

Academic Journal

Noonan syndrome‐like phenotype associated with an ERF frameshift variant.

المؤلفون: Hirano, Yasuhiro, Kuroda, Yukiko, Enomoto, Yumi, Naruto, Takuya, Muroya, Koji, Kurosawa, Kenji

المصدر: American Journal of Medical Genetics. Part A; Sep2024, Vol. 194 Issue 9, p1-6, 6p

8

Academic Journal

Two-hit mutation causes Wilms tumor in an individual with FBXW7-related neurodevelopmental syndrome

المؤلفون: Saito, Yoko, Keino, Dai, Kuroda, Yukiko, Enomoto, Yumi, Naruto, Takuya, Tanaka, Yukichi, Tanaka, Mio, Usui, Hidehito, Kitagawa, Norihiko, Yanagimachi, Masakatsu, Kurosawa, Kenji

المساهمون: Japan Agency for Medical Research and Development, MEXT | Japan Society for the Promotion of Science, Health and Labour Sciences Research Grants from the Ministry of Health, Labour and Welfare of Japan

المصدر: Journal of Human Genetics ; volume 70, issue 2, page 121-123 ; ISSN 1434-5161 1435-232X

الاتاحة: https://doi.org/10.1038/s10038-024-01299-6
https://www.nature.com/articles/s10038-024-01299-6.pdf
https://www.nature.com/articles/s10038-024-01299-6

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9

Academic Journal

A TMEM260 biallelic deletion underlies truncus arteriosus

المؤلفون: Enomoto, Yumi, Naruto, Takuya, Mitsui, Jun, Ueda, Hideaki, Kurosawa, Kenji

المصدر: Molecular Syndromology ; page 1-16 ; ISSN 1661-8769 1661-8777

الاتاحة: https://doi.org/10.1159/000543316
https://karger.com/msy/article-pdf/doi/10.1159/000543316/4319161/000543316.pdf

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10

Academic Journal

Early‐onset West syndrome with developmental delay associated with a novel KLHL20 variant

المؤلفون: Kuroda, Yukiko, Ikeda, Azusa, Naruto, Takuya, Kurosawa, Kenji

المساهمون: Japan Agency for Medical Research and Development, Ministry of Health, Labour and Welfare, Japan Society for the Promotion of Science

المصدر: American Journal of Medical Genetics Part A ; volume 194, issue 7 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.63600
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63600

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11

Academic Journal

A novel ACTB variant in an atypical case of Baraitser-Winter syndrome with cerebellar hypoplasia and diaphragmatic hernia

المؤلفون: Kuroda, Yukiko, Saito, Yoko, Enomoto, Yumi, Naruto, Takuya, Kurosawa, Kenji

المساهمون: JSPS KAKENHI, The Initiative on Rare and Undiagnosed Diseases

المصدر: Clinical Dysmorphology ; ISSN 0962-8827

الاتاحة: http://dx.doi.org/10.1097/mcd.0000000000000484
https://journals.lww.com/10.1097/MCD.0000000000000484

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12

Academic Journal

The first Japanese patient with mandibular hypoplasia, deafness, progeroid features and lipodystrophy diagnosed via POLD1 mutation detection ; The first Japanese MDPL case

المؤلفون: Okada, Asami, Kohmoto, Tomohiro, Naruto, Takuya, Yokota, Ichiro, Kotani, Yumiko, Shimada, Aki, Miyamoto, Yoko, Takahashi, Rizu, Goji, Aya, Masuda, Kiyoshi, Kagami, Shoji, Imoto, Issei

Relation: http://repo.lib.tokushima-u.ac.jp/files/public/11/115129/20200825153653706653/hgv_4_17031.pdf; http://repo.lib.tokushima-u.ac.jp/115129

الاتاحة: http://repo.lib.tokushima-u.ac.jp/115129

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13

Academic Journal

A novel PTCH1 mutation in a patient with Gorlin syndrome ; Novel PTCH1 mutation in Gorlin syndrome

المؤلفون: Okamoto, Nana, Naruto, Takuya, Kohmoto, Tomohiro, Komori, Takahide, Imoto, Issei

Relation: http://repo.lib.tokushima-u.ac.jp/files/public/11/115136/20200825165018116573/hgv_1_14022.pdf; http://repo.lib.tokushima-u.ac.jp/115136

الاتاحة: http://repo.lib.tokushima-u.ac.jp/115136

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14

Academic Journal

A novel missense mutation of COL5A2 in a patient with Ehlers–Danlos syndrome ; Novel COL5A2 mutation in Ehlers–Danlos syndrome

المؤلفون: Watanabe, Miki, Nakagawa, Ryuji, Naruto, Takuya, Kohmoto, Tomohiro, Suga, Ken-ichi, Goji, Aya, Kagami, Shoji, Masuda, Kiyoshi, Imoto, Issei

Relation: http://repo.lib.tokushima-u.ac.jp/files/public/11/115132/20200825160045210599/hgv_3_16030.pdf; http://repo.lib.tokushima-u.ac.jp/115132

الاتاحة: http://repo.lib.tokushima-u.ac.jp/115132

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15

Academic Journal

Genome-first approach diagnosed Cabezas syndrome via novel CUL4B mutation detection ; Novel CUL4B mutation in Cabezas syndrome

المؤلفون: Okamoto, Nobuhiko, Watanabe, Miki, Naruto, Takuya, Matsuda, Keiko, Kohmoto, Tomohiro, Saito, Masako, Masuda, Kiyoshi, Imoto, Issei

Relation: http://repo.lib.tokushima-u.ac.jp/files/public/11/115130/20200825154433441088/hgv_4_16045.pdf; http://repo.lib.tokushima-u.ac.jp/115130

الاتاحة: http://repo.lib.tokushima-u.ac.jp/115130

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16

Academic Journal

A novel frameshift mutation of CHD7 in a Japanese patient with CHARGE syndrome ; Novel CHD7 mutation in CHARGE syndrome

المؤلفون: Kohmoto, Tomohiro, Shono, Miki, Naruto, Takuya, Watanabe, Miki, Suga, Ken-ichi, Nakagawa, Ryuji, Kagami, Shoji, Masuda, Kiyoshi, Imoto, Issei

Relation: http://repo.lib.tokushima-u.ac.jp/files/public/11/115135/20200825164318702506/hgv_3_16004.pdf; http://repo.lib.tokushima-u.ac.jp/115135

الاتاحة: http://repo.lib.tokushima-u.ac.jp/115135

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17

Academic Journal

A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome ; Novel COL11A1 mutation in familial Stickler syndrome

المؤلفون: Kohmoto, Tomohiro, Tsuji, Atsumi, Morita, Kei-ichi, Naruto, Takuya, Masuda, Kiyoshi, Kashimada, Kenichi, Enomoto, Keisuke, Morio, Tomohiro, Harada, Hiroyuki, Imoto, Issei

Relation: http://repo.lib.tokushima-u.ac.jp/files/public/11/115134/20200825162151459153/hgv_3_16003.pdf; http://repo.lib.tokushima-u.ac.jp/115134

الاتاحة: http://repo.lib.tokushima-u.ac.jp/115134

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18

Academic Journal

Detection of 1p36 deletion by clinical exome-first diagnostic approach ; Chromosome 1p36 deletion syndrome detected by NGS

المؤلفون: Watanabe, Miki, Hayabuchi, Yasunobu, Ono, Akemi, Naruto, Takuya, Horikawa, Hideaki, Kohmoto, Tomohiro, Masuda, Kiyoshi, Nakagawa, Ryuji, Ito, Hiromichi, Kagami, Shoji, Imoto, Issei

Relation: http://repo.lib.tokushima-u.ac.jp/files/public/11/115133/20200825160933873146/hgv_3_16006.pdf; http://repo.lib.tokushima-u.ac.jp/115133

الاتاحة: http://repo.lib.tokushima-u.ac.jp/115133

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19

Academic Journal

Exome-first approach identified a novel gloss deletion associated with Lowe syndrome ; Lowe syndrome caused by gloss deletion

المؤلفون: Watanabe, Miki, Nakagawa, Ryuji, Kohmoto, Tomohiro, Naruto, Takuya, Suga, Ken-ichi, Goji, Aya, Horikawa, Hideaki, Masuda, Kiyoshi, Kagami, Shoji, Imoto, Issei

Relation: http://repo.lib.tokushima-u.ac.jp/files/public/11/115131/20200825155404941697/hgv_3_16037.pdf; http://repo.lib.tokushima-u.ac.jp/115131

الاتاحة: http://repo.lib.tokushima-u.ac.jp/115131

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20

Academic Journal

Novel CLCN7 compound heterozygous mutations in intermediate autosomal recessive osteopetrosis ; Novel CLCN7 mutations in IARO

المؤلفون: Okamoto, Nana, Kohmoto, Tomohiro, Naruto, Takuya, Masuda, Kiyoshi, Komori, Takahide, Imoto, Issei

Relation: http://repo.lib.tokushima-u.ac.jp/files/public/11/115120/20200821165409153681/hgv_4_17036.pdf; http://repo.lib.tokushima-u.ac.jp/115120

الاتاحة: http://repo.lib.tokushima-u.ac.jp/115120

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