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Metabolic Brain Disease
|
March 26, 2013
Congenital MTHFR deficiency causing early-onset cerebral stroke in a case homozygous for MTHFR thermolabile variant
Seung Jin Kim, Beom Hee Lee, Yoo-Mi Kim, et al.
Journal of Human Genetics
|
March 8, 2020
A female with typical fragile-X phenotype caused by maternal isodisomy of the entire X chromosome
Jin-Kyung Kim, Ji-Eun Jeong, Jong-Moon Choi, et al.
Korean Journal of Pediatrics
|
October 18, 2014
A Korean boy with atypical X-linked adrenoleukodystrophy confirmed by an unpublished mutation of ABCD1
Hye Jeong Jwa, Keon Su Lee, Gu Hwan Kim, et al.
Korean Journal of Pediatrics
|
June 7, 2013
Two cases of chronic pancreatitis associated with anomalous pancreaticobiliary ductal union and SPINK1 mutation
Eun Sam Rho, Earl Kim, Hong Koh, et al.
BMC Pediatrics
|
March 5, 2021
Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center
Ja Hye Kim, Yena Lee, Yunha Choi, et al.
Endocrine Connections
|
January 11, 2022
Phenotypic spectrum of patients with mutations in CHD7: clinical implications of endocrinological findings
Ja Hye Kim, Yunha Choi, Soojin Hwang, et al.
Hormone Research in Paediatrics
|
July 11, 2015
Identification and Functional Characterization of Two Novel Nonsense Mutations in the β-Subunit of INSR That Cause Severe Insulin Resistance Syndrome
Jin-Ho Choi, Minji Kang, Ja Hye Kim, et al.
Annals of Pediatric Endocrinology & Metabolism
|
January 25, 2022
Genotype-phenotype correlations and long-term efficacy of pamidronate therapy in patients with osteogenesis imperfecta
Yunha Choi, Soojin Hwang, Gu-Hwan Kim, et al.
Hormone Research
|
December 4, 2003
Clinical characteristics and molecular analysis of PIT1, PROP1,LHX3, and HESX1 in combined pituitary hormone deficiency patients with abnormal pituitary MR imaging
Sung-Su Kim, Youngho Kim, Young-Lim Shin, et al.
Journal of Korean Medical Science
|
May 9, 2017
DEND Syndrome with Heterozygous KCNJ11 Mutation Successfully Treated with Sulfonylurea
Ja Hyang Cho, Eungu Kang, Beom Hee Lee, et al.
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of 18
Search research articles
Search
Showing results (31-40 of 173) with videos related to
Sort By:
Page
of 18
Metabolic Brain Disease
|
March 26, 2013
Congenital MTHFR deficiency causing early-onset cerebral stroke in a case homozygous for MTHFR thermolabile variant
Seung Jin Kim, Beom Hee Lee, Yoo-Mi Kim, et al.
Journal of Human Genetics
|
March 8, 2020
A female with typical fragile-X phenotype caused by maternal isodisomy of the entire X chromosome
Jin-Kyung Kim, Ji-Eun Jeong, Jong-Moon Choi, et al.
Korean Journal of Pediatrics
|
October 18, 2014
A Korean boy with atypical X-linked adrenoleukodystrophy confirmed by an unpublished mutation of ABCD1
Hye Jeong Jwa, Keon Su Lee, Gu Hwan Kim, et al.
Korean Journal of Pediatrics
|
June 7, 2013
Two cases of chronic pancreatitis associated with anomalous pancreaticobiliary ductal union and SPINK1 mutation
Eun Sam Rho, Earl Kim, Hong Koh, et al.
BMC Pediatrics
|
March 5, 2021
Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center
Ja Hye Kim, Yena Lee, Yunha Choi, et al.
Endocrine Connections
|
January 11, 2022
Phenotypic spectrum of patients with mutations in CHD7: clinical implications of endocrinological findings
Ja Hye Kim, Yunha Choi, Soojin Hwang, et al.
Hormone Research in Paediatrics
|
July 11, 2015
Identification and Functional Characterization of Two Novel Nonsense Mutations in the β-Subunit of INSR That Cause Severe Insulin Resistance Syndrome
Jin-Ho Choi, Minji Kang, Ja Hye Kim, et al.
Annals of Pediatric Endocrinology & Metabolism
|
January 25, 2022
Genotype-phenotype correlations and long-term efficacy of pamidronate therapy in patients with osteogenesis imperfecta
Yunha Choi, Soojin Hwang, Gu-Hwan Kim, et al.
Hormone Research
|
December 4, 2003
Clinical characteristics and molecular analysis of PIT1, PROP1,LHX3, and HESX1 in combined pituitary hormone deficiency patients with abnormal pituitary MR imaging
Sung-Su Kim, Youngho Kim, Young-Lim Shin, et al.
Journal of Korean Medical Science
|
May 9, 2017
DEND Syndrome with Heterozygous KCNJ11 Mutation Successfully Treated with Sulfonylurea
Ja Hyang Cho, Eungu Kang, Beom Hee Lee, et al.
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of 18