Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 118


Lysinuric protein intolerance with homozygous SLC7A7 mutation caused by maternal uniparental isodisomy of chromosome 14.

Kang E, Kim T, Oh A, Yum MS, Keum C, Yoo HW, Lee BH.

J Hum Genet. 2019 Aug 19. doi: 10.1038/s10038-019-0657-6. [Epub ahead of print]


Characterization of the Subventricular-Thalamo-Cortical Circuit in the NP-C Mouse Brain, and New Insights Regarding Treatment.

Park MH, Choi BJ, Jeong MS, Lee JY, Jung IK, Park KH, Lee HW, Yamaguchi T, Marti HH, Lee BH, Schuchman EH, Jin HK, Bae JS.

Mol Ther. 2019 Aug 7;27(8):1507-1526. doi: 10.1016/j.ymthe.2019.05.008. Epub 2019 May 16.


Phenotypic and molecular spectrum of Korean patients with Lesch-Nyhan syndrome and attenuated clinical variants.

Cho JH, Choi JH, Heo SH, Kim GH, Yum MS, Lee BH, Yoo HW.

Metab Brain Dis. 2019 May 25. doi: 10.1007/s11011-019-00441-0. [Epub ahead of print]


Chylous Manifestations and Management of Gorham-Stout Syndrome.

Cho S, Kang SR, Lee BH, Choi S.

Korean J Thorac Cardiovasc Surg. 2019 Feb;52(1):44-46. doi: 10.5090/kjtcs.2019.52.1.44. Epub 2019 Feb 5.


Phenotypes of atopic dermatitis identified by cluster analysis in early childhood.

Seo E, Yoon J, Jung S, Lee J, Lee BH, Yu J.

J Dermatol. 2019 Feb;46(2):117-123. doi: 10.1111/1346-8138.14714. Epub 2018 Dec 6.


Adrenal Cortical Neoplasm with Uncertain Malignant Potential Arising in the Heterotopic Adrenal Cortex in the Liver of a Patient with Beckwith-Wiedemann Syndrome.

Kim EN, Song DE, Yoon HM, Lee BH, Kim CJ.

J Pathol Transl Med. 2019 Mar;53(2):129-135. doi: 10.4132/jptm.2018.11.13. Epub 2018 Nov 26.


Low prevalence of argininosuccinate lyase deficiency among inherited urea cycle disorders in Korea.

Kim D, Ko JM, Kim YM, Seo GH, Kim GH, Lee BH, Yoo HW.

J Hum Genet. 2018 Jul;63(8):911-917. doi: 10.1038/s10038-018-0467-2. Epub 2018 May 17.


The phenotypic heterogeneity of patients with Marfan-related disorders and their variant spectrums.

Seo GH, Kim YM, Kang E, Kim GH, Seo EJ, Lee BH, Choi JH, Yoo HW.

Medicine (Baltimore). 2018 May;97(20):e10767. doi: 10.1097/MD.0000000000010767.


Biochemical and molecular analyses of infantile sialic acid storage disease in a patient with nonimmune hydrops fetalis.

Kang E, Kim YM, Heo SH, Jung E, Kim KS, Yoo HJ, Kim EN, Kim CJ, Kim GH, Lee BH.

Clin Chim Acta. 2018 Jul;482:199-202. doi: 10.1016/j.cca.2018.04.016. Epub 2018 Apr 11.


Clinical characteristics and treatment outcomes in Camurati-Engelmann disease: A case series.

Kim YM, Kang E, Choi JH, Kim GH, Yoo HW, Lee BH.

Medicine (Baltimore). 2018 Apr;97(14):e0309. doi: 10.1097/MD.0000000000010309.


Biochemical and molecular characterisation of neurological Wilson disease.

Seo GH, Kim YM, Oh SH, Chung SJ, Choi IH, Kim GH, Yum MS, Choi JH, Kim KM, Ko TS, Lee BH, Yoo HW.

J Med Genet. 2018 Sep;55(9):587-593. doi: 10.1136/jmedgenet-2017-105214. Epub 2018 Apr 4.


Severe form of neuroblastoma amplified sequence deficiency in an infant with recurrent acute liver failure.

Sunwoo Y, Kim YM, Kim EN, Oh SH, Lee BH.

Pediatr Int. 2018 Mar;60(3):302-304. doi: 10.1111/ped.13476. No abstract available.


Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.

Kang E, Kim YM, Kang M, Heo SH, Kim GH, Choi IH, Choi JH, Yoo HW, Lee BH.

BMC Pediatr. 2018 Mar 8;18(1):103. doi: 10.1186/s12887-018-1069-z.


Focal facial dermal dysplasia type 4: identification of novel CYP26C1 mutations in unrelated patients.

Lee BH, Morice-Picard F, Boralevi F, Chen B, Desnick RJ.

J Hum Genet. 2018 Mar;63(3):257-261. doi: 10.1038/s10038-017-0375-x. Epub 2017 Dec 20.


Characteristic dysmorphic features in congenital disorders of glycosylation type IIb.

Kim YM, Seo GH, Jung E, Jang JH, Kim SZ, Lee BH.

J Hum Genet. 2018 Mar;63(3):383-386. doi: 10.1038/s10038-017-0386-7. Epub 2017 Dec 13. Review.


Impaired Osteogenesis of Disease-Specific Induced Pluripotent Stem Cells Derived from a CFC Syndrome Patient.

Choi JY, Han KM, Kim D, Lee BH, Yoo HW, Choi JH, Han YM.

Int J Mol Sci. 2017 Dec 1;18(12). pii: E2591. doi: 10.3390/ijms18122591.


A multicenter, open-label, phase III study of Abcertin in Gaucher disease.

Lee BH, Abdalla AF, Choi JH, Beshlawy AE, Kim GH, Heo SH, Megahed AMH, Elsayed MAL, Barakat TEM, Eid KMAE, El-Tagui MH, Mahmoud MMH, Fateen E, Park JY, Yoo HW.

Medicine (Baltimore). 2017 Nov;96(45):e8492. doi: 10.1097/MD.0000000000008492. Erratum in: Medicine (Baltimore). 2018 Aug;97(33):e12066.


Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy.

Heo SH, Kang E, Kim YM, Go H, Kim KY, Jung JY, Kang M, Kim GH, Kim JM, Choi IH, Choi JH, Jung SC, Desnick RJ, Yoo HW, Lee BH.

J Med Genet. 2017 Nov;54(11):771-780. doi: 10.1136/jmedgenet-2017-104704. Epub 2017 Aug 23.


Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype.

Choi JH, Lee BH, Heo SH, Kim GH, Kim YM, Kim DS, Ko JM, Sohn YB, Hong YH, Lee DH, Kook H, Lim HH, Kim KH, Kim WS, Hong GR, Kim SH, Park SH, Kim CD, Kim SM, Seo JS, Yoo HW.

Medicine (Baltimore). 2017 Jul;96(29):e7387. doi: 10.1097/MD.0000000000007387.


The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity.

Lee BH, Aggarwal A, Slavotinek A, Edelmann L, Chen B, Desnick RJ.

J Med Genet. 2017 Sep;54(9):585-590. doi: 10.1136/jmedgenet-2017-104561. Epub 2017 Jun 29. Review.


Supplemental Content

Loading ...
Support Center