Long-term endocrine effects and trends in body mass index changes in patients with childhood-onset brain tumors.
Broad clinical spectrum and diverse outcomes of prolactinoma with pediatric onset: medication-resistant and recurrent cases.
Case report of unexpected gastrointestinal involvement in type 1 Gaucher disease: comparison of eliglustat tartrate treatment and enzyme replacement therapy.
Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype.
DEND Syndrome with Heterozygous KCNJ11 Mutation Successfully Treated with Sulfonylurea.
Diabetes mellitus caused by secondary hemochromatosis after multiple blood transfusions in 2 patients with severe aplastic anemia.
Diagnostic yield of targeted gene panel sequencing to identify the genetic etiology of disorders of sex development.
Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy.
High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing.
Impaired Osteogenesis of Disease-Specific Induced Pluripotent Stem Cells Derived from a CFC Syndrome Patient.
Life-threatening bleeding from gastric mucosal angiokeratomas during anticoagulation: A case report of Fabry disease.
Long-term Consequences of Congenital Adrenal Hyperplasia due to Classic 21-hydroxylase Deficiency in Adolescents and Adults.
Management issues of congenital adrenal hyperplasia during the transition from pediatric to adult care.
Mutation Spectrum of STAR and a Founder Effect of the p.Q258* in Korean Patients with Congenital Lipoid Adrenal Hyperplasia.
Rare Frequency of Mutations in Pituitary Transcription Factor Genes in Combined Pituitary Hormone or Isolated Growth Hormone Deficiencies in Korea.
Recombinant growth hormone therapy for prepubertal children with idiopathic short stature in Korea: a phase III randomized trial.
Biochemical and molecular characteristics of citrin deficiency in Korean children.
Cardiac Manifestations and Associations with Gene Mutations in Patients Diagnosed with RASopathies.
Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies.
Epilepsy and Other Neuropsychiatric Manifestations in Children and Adolescents with 22q11.2 Deletion Syndrome.
Etiology and therapeutic outcomes of children with gonadotropin-independent precocious puberty.
Fabry Disease Presenting with Hypertrophic Cardiomyopathy and Tricuspid Regurgitation
Genotype-Phenotype Correlation of SMN1 and NAIP Deletions in Korean Patients with Spinal Muscular Atrophy.
Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay.
Long-term clinical outcome and the identification of homozygous CYP27B1 gene mutations in a patient with vitamin D hydroxylation-deficient rickets type 1A.
MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome.
Malfunction in Mitochondrial β-Oxidation Contributes to Lipid Accumulation in Hepatocyte-Like Cells Derived from Citrin Deficiency-Induced Pluripotent Stem Cells.
Novel and Recurrent ACADS Mutations and Clinical Manifestations Observed in Korean Patients with Short-chain Acyl-coenzyme a Dehydrogenase Deficiency.
Quantification of ATP7B Protein in Dried Blood Spots by Peptide Immuno-SRM as a Potential Screen for Wilson's Disease.
Time to treatment benefit for adult patients with Fabry disease receiving agalsidase 棺: data from the Fabry Registry.
Two cases of familial cerebral cavernous malformation caused by mutations in the CCM1 gene.
A Probable Korean Case of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
A phase 2 multi-center, open-label, switch-over trial to evaluate the safety and efficacy of Abcertin® in patients with type 1 Gaucher disease.
Analysis of trinucleotide repetitive sequences for Korean patients with spinocerebellar ataxia types 8
Clinical and endocrine features of two Allan-Herndon-Dudley syndrome patients with monocarboxylate transporter 8 mutations.
Clinical features, outcomes, and genetic analysis in Korean children with Alagille syndrome.
Clinical, Biochemical, and Genetic Characterization of Glycogen Storage Type IX in a Child with Asymptomatic Hepatomegaly.
Clinical, endocrinological, and molecular characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: a single center experience.
Diagnostic Value of Ceruloplasmin in the Diagnosis of Pediatric Wilson's Disease.
Identification and Functional Characterization of Two Novel Nonsense Mutations in the β-Subunit of INSR That Cause Severe Insulin Resistance Syndrome.
Identifying clinical correlates for suicide among epilepsy patients in South Korea: A case-control study.
Impaired osteogenesis in Menkes disease-derived induced pluripotent stem cells.
Importance of RNF213 polymorphism on clinical features and long-term outcome in moyamoya disease.
Liver transplantation for metabolic liver disease: experience at a living donor dominant liver transplantation center.
Mitochondrial respiratory defect causes dysfunctional lactate turnover via AMP-activated protein kinase activation in human induced pluripotent stem cell-derived hepatocytes
Nasal Reconstruction of a Frontonasal Dysplasia Deformity Using Aesthetic Rhinoplasty Techniques.
Novel Heterozygous Mutations of NR5A1 and Their Functional Characteristics in Patients with 46,XY Disorders of Sex Development without Adrenal Insufficiency.
Phenotypic variability of a terminal 7q deletion/8q duplication in Korean siblings.
Short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency.
Successful sulfonylurea treatment in a patient with permanent neonatal diabetes mellitus with a novel KCNJ11 mutation.
Three novel pathogenic mutations in KATP channel genes and somatic imprinting alterations of the 11p15 region in pancreatic tissue in patients with congenital hyperinsulinism.
Turner syndrome presented with tall stature due to overdosage of the SHOX gene.
A Korean boy with atypical X-linked adrenoleukodystrophy confirmed by an unpublished mutation of ABCD1.
A de novo microdeletion of ANKRD11 gene in a Korean patient with KBG syndrome.
A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literature.
Allele frequency of a 24?bp duplication in exon 10 of the CHIT1 gene in the general Korean population and in Korean patients with Gaucher disease
Atypical manifestation of carnitine palmitoyltransferase 1A deficiency: hepatosplenomegaly and nephromegaly.
Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations.
Efficacy of growth hormone therapy in adults with childhood-onset growth hormone deficiency.
High frequency of DUOX2 mutations in transient or permanent congenital hypothyroidism with eutopic thyroid glands.
Long-term follow-up on Cushing disease patient after transsphenoidal surgery.
Lowe syndrome: a single center's experience in Korea.
Modeling of Menkes disease via human induced pluripotent stem cells.
Moyamoya syndrome in a patient with Noonan-like syndrome with loose anagen hair.
Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients.
OTC gene in ornithine transcarbamylase deficiency: clinical course and mutational spectrum in seven Korean patients.
Pharmacogenomics of insulin-like growth factor-I generation during GH treatment in children with GH deficiency or Turner syndrome.
Thanatophoric dysplasia in a dichorionic twin confirmed by genetic analysis at the early second trimester: A case report and literature review.
The PRSS1 c.623G>C (p.G208A) mutation is the most common PRSS1 mutation in Korean children with hereditary pancreatitis.
The first Korean case of HDR syndrome confirmed by clinical and molecular investigation.
Variable phenotypes of multiple synostosis syndrome in patients with novel NOG mutations.
A Novel Frameshlft Mutation of the ALDDB Gene in a Korean Girl Presenting with Recurrent Hepatitis Diagnosed as Hereditary Fructose Intolerance
A Wedge-Shaped Anterior Hairline Extension Associated with a Tessier Number 10 Cleft
Clinical Phenotype and Mutation Spectrum of the CYP21A2 Gene in Patients with Steroid 21-Hydroxylase Deficiency
Control of puberty: genetics, endocrinology, and environment.
Exome sequencing and subsequent association studies identify five amino acid-altering variants influencing human height.
Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy
Identification of the mechanism underlying a human chimera by SNP array analysis.
Novel frameshift mutation (Pro171fsX21) in neonatal type 2 Gaucher's disease.
Successful Liver Transplantation for a Child With Life-Threatening Recurrent Bleeding Episodes Due to Congenital Factor X Deficiency: A Case Report
Uneventful clinical courses of Korean patients with methylcrotonylglycinuria and their common mutations.
A Case of Campomelic Dysplasia without Sex Reversal.
A novel mutation and unusual clinical features in a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome.
Aberrant splicing by a mutation, c.403+2T>A, in Korean patients with arthrogryposis-renal-dysfunction-cholestasis syndrome
Argininemia presenting with progressive spastic diplegia.
Clinical and Functional Characteristics of a Novel Heterozygous Mutation of the IGF1R Gene and IGF1R Haploinsufficiency due to Terminal 15q26.2->qter Deletion in Patients with Intrauterine Growth Retardation and Postnatal Catch-Up Growth Failure.
Clinical characterization and identification of two novel mutations of the GNAS gene in patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism.
Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort.
Functional effects of DAX-1 mutations identified in patients with X-linked adrenal hypoplasia congenita.
High Incidence of PRSS1 and SPINK1 Mutations in Korean Children With Acute Recurrent and Chronic Pancreatitis.
High allele frequency of the p.Q258X mutation and identification of a novel mis-splicing mutation in the StAR gene in Korean patients with congenital lipoid adrenal hyperplasia.
High incidence of PRSS1 and SPINK1 mutations in Korean children with acute recurrent and chronic pancreatitis.
Low prevalence of classical galactosemia in Korean population.
Molecular cytogenetic and clinical characterization of a patient with a 5.6-Mb deletion in 7p15 including HOXA cluster.
Ovarian cyst torsion in a patient with congenital lipoid adrenal hyperplasia.
Progressive mesenteric lymphadenopathy with protein-losing enteropathy; a devastating complication in Gaucher disease.
Proteomic analysis of the hepatic tissue of Long-Evans Cinnamon (LEC) rats according to the natural course of Wilson disease.
Testicular adrenal rest tumors in a patient with untreated congenital adrenal hyperplasia.
새로운 MEN1 유전자 돌연변이가 증명된 가족성 제1형 다발내분비종양 1예
소아기에 발병한 성장호르몬결핍증 환자의 성인기에서의 재평가 및 성장호르몬 치료: 청소년기에서 성인기로의 이행기의 관리
염색체 마이크로어레이를 이용한 표지염색체의 분자세포유전학적 특성
A Case of Campomelic Dysplasia without Sex Reversal
A case of campomelic dysplasia without sex reversal.
A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene.
Clinical characterization and analysis of the SRD5A2 gene in six Korean patients with 5alpha-reductase type 2 deficiency.
Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts.
Development of SNP-based human identification system.
Influence of parental origin of the X chromosome on physical phenotypes and GH responsiveness of patients with Turner syndrome.
Low prevalence of classical galactosemia in Korean population
Nonalcoholic Fatty Liver Disease in 2 Siblings With Adult-onset Type II Citrullinemia.
Nonalcoholic fatty liver disease in 2 siblings with adult-onset type 2 citrullinemia.
Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder.
The common exon 3 polymorphism of the growth hormone receptor gene and the effect of growth hormone therapy on growth in Korean patients with Turner syndrome.
The first Korean case of KCNQ2 mutation in a family with benign familial neonatal convulsions.
Three novel mutations of the APC gene in Korean patients with familial adenomatous polyposis.
Transient neonatal diabetes mellitus with macroglossia diagnosed by methylation specific PCR.
진성성조숙증에서 GnRH agonist의 용량에 따른 최종 성인 신장 개선 효과의 차이에 관한 연구
유전성내분비질환의 분자유전학적 진단
소아 및 청소년기에서 골수이식 후에 발생할 수 있는 내분비기능부전
3q29 미세결손증후군에서 Oligonucleotide Array ComparativeGenomicHybridization에 의한 새로운 결손 부위의 검출
선천성부신피질과형성증 환자에서 동반된 부신피질암
한국 소아 및 청소년 Graves 병의 자연경과 및 예후인자
고혈압과 성장부진을 동반한 갈색세포종
성인터너증후군 환자에서 당뇨병과 고혈압 발생의 예측 인자에 관한 연구
신생아 일과성 고암모니아혈증 1례
Analysis of PRSS1 and SPINK1 mutations in Korean patients with idiopathic and familial pancreatitis.
Clinical characteristics and VPS33B mutations in patients with ARC syndrome.
Development of SNP-based human identification system.
Identification of 15 loci influencing height in a Korean population.
A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene.
A case of Smith-Lemli Opitz syndrome diagnosed by identifications in the 7-dehydrocholesterol reductase (DHCR7) gene
Analysis of PRSS1 and SPINK1 Mutations in Korean Patients With Idiopathic and Familial Pancreatitis.
Autosomal-dominant guanosine triphosphate cyclohydrolase I deficiency with novel mutations in Korean children
Autosomal-dominant guanosine triphosphate cyclohydrolase I deficiency with novel mutations.
Effect of thalamotomy on focal hand dystonia in a family with DYT1 mutation.
Estimation of Wilson's Disease Incidence and Carrier Frequency in the Korean Population by Screening ATP7B Major Mutations in Newborn Filter Papers Using the SYBR Green Intercalator Method Based on the Amplification Refractory Mutation System.
Focal hand dystonia in a patient with PANK2 mutation.
Genetic variants in the HLA-G region are associated with Kawasaki disease.
Identification of a novel human Rad51 variant that promotes DNA strand exchange.
Identification of a novel mutation of CFTR gene in a Korean patient with cystic fibrosis.
Molecular analysis of the AR and SRD5A2 genes in patients with 46,XY disorders of sex development.
PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.
Short-term efficacy of enzyme replacement therapy in Korean patients with Fabry disease.
The CCR5 (-2135C/T) Polymorphism may be Associated with the Development of Kawasaki Disease in Korean Children.
The common exon 3 polymorphism of the growth hormone receptor (GHR) gene and effect of growth hormone therapy on growth in Korean children with idiopathic short stature.
한국인 메칠말로닌산뇨증 및 프로피오닌산뇨증의 유전자형과 임상양상
프래더 윌리 증후군의 유전학적 발병기전에 따른 표현형 및 성장호르몬 치료효과에 관한 연구
조절되지 않는 제1형 청소년당뇨병 환자에서 Insulin Glargine치료효과
Dual Priming Oligonucleotide (DPO) system을 이용한 듀시엔/ㅂ커형 근이영양증 진단법
청소년기에 다모증과 비만을 주소로 진단된 다낭성 난소증후군 3례
