about
Kabuki syndrome: clinical and molecular characteristicsGenetics of Prader-Willi syndrome and Prader-Will-Like syndromeClinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal casesTwo adolescent patients with coexistent Graves' disease and Moyamoya disease in Korea.Case report of unexpected gastrointestinal involvement in type 1 Gaucher disease: comparison of eliglustat tartrate treatment and enzyme replacement therapyA novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literaturePrader-Willi syndrome: a single center's experience in KoreaA de novo microdeletion of ANKRD11 gene in a Korean patient with KBG syndromeNeurofibromatosis type 1: a single center's experience in Korea.The first Korean case of HDR syndrome confirmed by clinical and molecular investigation.A case of partial trisomy 20p resulting from meiotic recombination of a maternal pericentric inversion.Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular StudiesIncidence trends and associated factors of diabetes mellitus in Korean children and adolescents: a retrospective cohort study in Busan and Gyeongnam.Practical approach to steroid 5alpha-reductase type 2 deficiency.Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder.Unravelling the mechanism of action of enzyme replacement therapy in Fabry disease.Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.Novel and Recurrent ACADS Mutations and Clinical Manifestations Observed in Korean Patients with Short-chain Acyl-coenzyme a Dehydrogenase Deficiency.Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene.Association of Obesity or Overweight with Bone Health in Childhood and Adolescence: Another Health Risk Never to Be Underestimated.A rare case of multiple pituitary adenomas in an adolescent Cushing disease presenting as a vertebral compression fracture.A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene.OTC gene in ornithine transcarbamylase deficiency: clinical course and mutational spectrum in seven Korean patients.High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing.Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients.Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism.NEU1 mutation in a Korean infant with type 2 sialidosis presenting as isolated fetal ascites.The PRSS1 c.623G>C (p.G208A) mutation is the most common PRSS1 mutation in Korean children with hereditary pancreatitis.Vitamin D receptor gene polymorphisms and type 1 diabetes mellitus in a Korean population.Three cases of pediatric patients with testicular microlithiasis showing gynecomastia and testicular enlargement.Understanding of type 1 diabetes mellitus: What we know and where we goA Rare Cause of Life-Threatening Ketoacidosis: Novel Compound Heterozygous Mutations Causing Succinyl-CoA:3-Ketoacid CoA Transferase DeficiencyThe common exon 3 polymorphism of the growth hormone receptor gene and the effect of growth hormone therapy on growth in Korean patients with Turner syndromeMelkersson-Rosenthal syndrome with Hashimoto thyroiditis in a 9-year-old girl: an autoimmune disorderComparison of effectiveness of growth hormone therapy according to disease-causing genes in children with Noonan syndromeEvaluation and management of amenorrhea related to congenital sex hormonal disordersConsiderations for evaluating the effectiveness and long-term outcome of enzyme replacement therapy in Pompe disease
P50
Q26778099-6A116EBB-4B02-45A6-B435-825D50F726E8Q28074219-F0655F3A-8B21-47B4-9C87-6D73FFD18C09Q28236948-4621D5EA-5566-4DC6-84ED-32586C9CD2A8Q30839611-D605D8DB-62C7-49EC-8666-40F5E23909CBQ33692023-4C9B7633-3743-4AFC-8475-EF4DBA47353FQ33727002-37B03211-CAEC-44D5-91DA-67F945E5D589Q34022930-DA1CF437-9C12-4DF0-9154-0E2F6687BE79Q34116657-407D399F-BFF0-44D1-A9DA-BBBAD96A8652Q34347843-A66DC15E-6C02-4672-9EB8-9DD1F207DF3FQ34774210-F817C284-1759-4739-B9AF-F295BC022595Q35664899-516A3756-8B69-4D57-BCE6-0B3FCD32264AQ35942631-7D28D407-3647-4353-BF8D-9FE04806335BQ36488579-A420674C-5230-4401-9995-1A165D8CD633Q37720498-89DE18B8-5246-48F2-B412-F4ADCB0D605DQ37732775-94F02CF8-E896-4E48-9775-8BD4A0D2F137Q38421318-EE4F25D9-E760-4B58-9E13-7CDEA32CB791Q38439221-EA54B896-6E30-45BC-BDDC-D39FD94D59D7Q39551921-E0D77685-01CC-4CE8-8D23-7E5572A5BA11Q40917900-F9C69D5E-5ED2-4DB6-88ED-31BF3D2493C8Q41918173-AE089C1F-D8CF-4E21-AE06-AF193B57DC55Q42355920-9740A149-C77A-4788-9837-EA0EA5D0A0F2Q42378175-9CD1A5B6-B008-4664-8319-5AC30A40EA56Q46318207-51C6CCD8-C935-4DC8-9237-72A31E86FDD4Q47591417-AD37189D-B258-4FE3-A032-19D1881FDE72Q48255773-4DBC7AF9-3DB2-4E4A-B326-BE1C2A740F55Q48720813-D7C06A47-6E7F-4AAE-B6D7-41CDF274C7DCQ52149074-9C45E0B2-754B-40ED-A7AD-20CF20E1207BQ53260096-E80A39B1-BFCD-4201-9664-ED8C2B7C7A63Q53283990-940CE581-938C-4B7C-8971-539BE93DCFB3Q54169274-4C996676-98C6-4A15-B6FF-4629DCB550EEQ55608734-15A81B09-B65C-4279-A46D-20A131F266ADQ57297964-C304F2E6-242F-4D16-9C89-022063827954Q64230125-2C1B127C-3A28-42B4-84AB-B684D5C6520CQ84405669-AA9C683B-6CB3-47C9-A9EF-A8665A68143EQ87492521-18D562AF-82B7-4A25-9998-10509C85C79FQ90254897-B9136D7A-66B4-4E32-8D73-55FB436D8B14Q90675511-47D9E15A-D982-4A38-B589-27C9C9172A59Q92549228-797706A4-FEEB-4DA7-8355-FE66480F6E09
P50
description
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Chong Kun Cheon
@ast
Chong Kun Cheon
@en
Chong Kun Cheon
@es
Chong Kun Cheon
@nl
Chong Kun Cheon
@sl
type
label
Chong Kun Cheon
@ast
Chong Kun Cheon
@en
Chong Kun Cheon
@es
Chong Kun Cheon
@nl
Chong Kun Cheon
@sl
prefLabel
Chong Kun Cheon
@ast
Chong Kun Cheon
@en
Chong Kun Cheon
@es
Chong Kun Cheon
@nl
Chong Kun Cheon
@sl
P106
P1153
26649396100
P31
P496
0000-0002-8609-5826
P569
2000-01-01T00:00:00Z