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Items: 1 to 20 of 205

1.

A new case of spastic paraplegia type 64 due to a missense mutation in the ENTPD1 gene.

Mamelona J, Crapoulet N, Marrero A.

Hum Genome Var. 2019 Jan 11;6:5. doi: 10.1038/s41439-018-0036-4. eCollection 2019.

2.

Genetics of narcolepsy.

Miyagawa T, Tokunaga K.

Hum Genome Var. 2019 Jan 8;6:4. doi: 10.1038/s41439-018-0033-7. eCollection 2019. Review.

3.

Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis.

Kondo H, Oku K, Katagiri S, Hayashi T, Nakano T, Iwata A, Kuniyoshi K, Kusaka S, Hiyoshi A, Uchio E, Kondo M, Oishi N, Kameya S, Mizota A, Naoi N, Ueno S, Terasaki H, Morimoto T, Iwaki M, Yoshitake K, Iejima D, Fujinami K, Tsunoda K, Shinoda K, Iwata T.

Hum Genome Var. 2019 Jan 8;6:3. doi: 10.1038/s41439-018-0034-6. eCollection 2019.

4.

Novel neuroblastoma amplified sequence (NBAS) mutations in a Japanese boy with fever-triggered recurrent acute liver failure.

Ono S, Matsuda J, Watanabe E, Akaike H, Teranishi H, Miyata I, Otomo T, Sadahira Y, Mizuochi T, Kusano H, Kage M, Ueno H, Yoshida K, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Ogawa S, Hayashi Y, Kanegane H, Ouchi K.

Hum Genome Var. 2019 Jan 7;6:2. doi: 10.1038/s41439-018-0035-5. eCollection 2019.

5.

A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation.

Iida A, Takeshita E, Kosugi S, Kamatani Y, Momozawa Y, Kubo M, Nakagawa E, Kurosawa K, Inoue K, Goto YI.

Hum Genome Var. 2018 Dec 5;6:1. doi: 10.1038/s41439-018-0032-8. eCollection 2019.

6.

A delayed diagnosis of Pallister-Hall syndrome in an adult male following the incidental detection of a hypothalamic hamartoma.

Courtney E, Swee DS, Ishak D, Ngeow J.

Hum Genome Var. 2018 Nov 12;5:31. doi: 10.1038/s41439-018-0031-9. eCollection 2018.

7.

A novel CUL7 mutation in a Japanese patient with 3M syndrome.

Takatani T, Shiohama T, Takatani R, Shimojo N.

Hum Genome Var. 2018 Oct 23;5:30. doi: 10.1038/s41439-018-0029-3. eCollection 2018.

8.

eLD: entropy-based linkage disequilibrium index between multiallelic sites.

Okada Y.

Hum Genome Var. 2018 Oct 22;5:29. doi: 10.1038/s41439-018-0030-x. eCollection 2018.

9.

Exonic deletions in GALC are frequent in Japanese globoid-cell leukodystrophy patients.

Irahara-Miyana K, Enokizono T, Ozono K, Sakai N.

Hum Genome Var. 2018 Oct 5;5:28. doi: 10.1038/s41439-018-0027-5. eCollection 2018.

10.

Exome and copy number variation analyses of Mayer-Rokitansky-K├╝ster- Hauser syndrome.

Takahashi K, Hayano T, Sugimoto R, Kashiwagi H, Shinoda M, Nishijima Y, Suzuki T, Suzuki S, Ohnuki Y, Kondo A, Shiina T, Nakaoka H, Inoue I, Izumi SI.

Hum Genome Var. 2018 Sep 27;5:27. doi: 10.1038/s41439-018-0028-4. eCollection 2018.

11.

Long-range haplotype analysis of the malaria parasite receptor gene ACKR1 in an East-African population.

Yin Q, Srivastava K, Gebremedhin A, Makuria AT, Flegel WA.

Hum Genome Var. 2018 Sep 14;5:26. doi: 10.1038/s41439-018-0024-8. eCollection 2018.

12.

Mitochondrial DNA 3243A>T mutation in a patient with MELAS syndrome.

Ikeda T, Osaka H, Shimbo H, Tajika M, Yamazaki M, Ueda A, Murayama K, Yamagata T.

Hum Genome Var. 2018 Sep 4;5:25. doi: 10.1038/s41439-018-0026-6. eCollection 2018.

13.

Correction: Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families.

Hines SL, Agarwal A, Ghandour M, Aslam N, Mohammad AN, Atwal PS.

Hum Genome Var. 2018 Aug 28;5:24. doi: 10.1038/s41439-018-0025-7. eCollection 2018.

14.

Sensorineural hearing loss and mild cardiac phenotype caused by an EYA4 mutation.

Abe S, Takeda H, Nishio SY, Usami SI.

Hum Genome Var. 2018 Aug 22;5:23. doi: 10.1038/s41439-018-0023-9. eCollection 2018.

15.

Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation.

Lee T, Misaki M, Shimomura H, Tanaka Y, Yoshida S, Murayama K, Nakamura K, Fujiki R, Ohara O, Sasai H, Fukao T, Takeshima Y.

Hum Genome Var. 2018 Aug 16;5:22. doi: 10.1038/s41439-018-0022-x. eCollection 2018.

16.

Exome-first approach identified novel INDELs and gene deletions in Mowat-Wilson Syndrome patients.

Gosso MF, Rohr C, Brun B, Mejico G, Madeira F, Fay F, Klurfan M, Vazquez M.

Hum Genome Var. 2018 Aug 1;5:21. doi: 10.1038/s41439-018-0021-y. eCollection 2018.

17.

A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy.

Ishiyama A, Iida A, Hayashi S, Komaki H, Sasaki M, Nonaka I, Noguchi S, Nishino I.

Hum Genome Var. 2018 Jul 20;5:19. doi: 10.1038/s41439-018-0018-6. eCollection 2018.

18.

Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders - leukodystrophy and autism.

Yamamoto T, Yamamoto-Shimojima K, Ueda Y, Imai K, Takahashi Y, Imagawa E, Miyake N, Matsumoto N.

Hum Genome Var. 2018 Jul 19;5:18. doi: 10.1038/s41439-018-0020-z. eCollection 2018.

19.

Lack of association between PER3 variable number tandem repeat and circadian rhythm sleep-wake disorders.

Hida A, Kitamura S, Kadotani H, Uchiyama M, Ebisawa T, Inoue Y, Kamei Y, Mishima K.

Hum Genome Var. 2018 Jul 12;5:17. doi: 10.1038/s41439-018-0017-7. eCollection 2018.

20.

A recurrent homozygous NHLRC1 variant in siblings with Lafora disease.

Araya N, Takahashi Y, Shimono M, Fukuda T, Kato M, Nakashima M, Matsumoto N, Saitsu H.

Hum Genome Var. 2018 Jul 12;5:16. doi: 10.1038/s41439-018-0015-9. eCollection 2018.

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