Search Results - "Seo GH"

A humanized IFN-γ mouse model reveals skin eschar formation, enhanced susceptibility and scrub typhus pathogenesis.

Authors: Cho, Ryan H. Gao, Lihai Wang, Hui et al.

Source: PLoS Pathogens. 2/11/2026, Vol. 22 Issue 2, p1-24. 24p.

Clinical utility of genome sequencing in rare diseases: lessons from a single-center study of 1,452 Korean families.

Authors: Lee S Seo GH Kim SY et al.

Source: NPJ genomic medicine [NPJ Genom Med] 2025 Dec 08; Vol. 11 (1), pp. 2. Date of Electronic Publication: 2025 Dec 08.

Publication Type: Journal Article

Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Novel SYK Variant Causes Enhanced SYK Autophosphorylation and PI3K Activation in an Antibody-Deficient Patient.

Authors: Edwards ESJ Chatelier J Snell GI et al.

Source: Journal of clinical immunology [J Clin Immunol] 2025 Oct 20; Vol. 45 (1), pp. 147. Date of Electronic Publication: 2025 Oct 20.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-2592 (Electronic) Linking ISSN: 02719142 NLM ISO Abbreviation: J Clin Immunol Subsets: MEDLINE

Expanding genetic and clinical spectra of β-tubulinopathies: A Korean study.

Authors: Hwang S Bae H Kim D et al.

Source: Journal of human genetics [J Hum Genet] 2026 Mar; Vol. 71 (3), pp. 151-159. Date of Electronic Publication: 2025 Oct 29.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE

Genetic studies identify known and novel variants for recessively inherited moderate to severe hearing loss in consanguineous families from Pakistan.

Authors: Ramzan M Idrees H Khan H et al.

Source: Scientific reports [Sci Rep] 2026 May 05. Date of Electronic Publication: 2026 May 05.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

Identification of recurrent MYH7 variant hypertrophic cardiomyopathy patients in Korea: a case series.

Authors: Ryu SW Jang S Son JW et al.

Source: Cardiovascular diagnosis and therapy [Cardiovasc Diagn Ther] 2025 Dec 31; Vol. 15 (6), pp. 1174-1181. Date of Electronic Publication: 2025 Dec 23.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: AME Publishing Company Country of Publication: China NLM ID: 101601613 Publication Model: Print-Electronic Cited Medium: Print ISSN: 2223-3652 (Print) Linking ISSN: 22233652 NLM ISO Abbreviation: Cardiovasc Diagn Ther Subsets: PubMed not MEDLINE

Homozygous FDXR variant in twin sisters with spastic paraparesis followed by acute progressive flaccid quadriparesis.

Authors: Tafakhori A Sarvestani Z Kariminejad A et al.

Source: BMC neurology [BMC Neurol] 2026 Feb 23; Vol. 26 (1). Date of Electronic Publication: 2026 Feb 23.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2377 (Electronic) Linking ISSN: 14712377 NLM ISO Abbreviation: BMC Neurol Subsets: MEDLINE

High prevalence of ALPK3 premature terminating variants in Korean hypertrophic cardiomyopathy patients.

Authors: Ryu SW Jeong WC Hong GR et al.

Source: Frontiers in cardiovascular medicine [Front Cardiovasc Med] 2024 Jul 05; Vol. 11, pp. 1424551. Date of Electronic Publication: 2024 Jul 05 (Print Publication: 2024).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 101653388 Publication Model: eCollection Cited Medium: Print ISSN: 2297-055X (Print) Linking ISSN: 2297055X NLM ISO Abbreviation: Front Cardiovasc Med Subsets: PubMed not MEDLINE

Hereditary, non HINT1 related, axonal neuropathy with neuromyotonia.

Authors: Spiliopoulos KC Veltsista D Veltsou E et al.

Source: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2025 Jun; Vol. 46 (6), pp. 2843-2846. Date of Electronic Publication: 2025 Feb 26.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1590-3478 (Electronic) Linking ISSN: 15901874 NLM ISO Abbreviation: Neurol Sci Subsets: MEDLINE

Studies on intellectual disability identify variants in established genes as well as confirm candidature of new genes.

Authors: Butt AI Bazai FK Kakar K et al.

Source: Scientific reports [Sci Rep] 2026 Feb 19; Vol. 16 (1). Date of Electronic Publication: 2026 Feb 19.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

Molecular characterization of recessively inherited ataxic and neuropathic disorders in consanguineous Pakistani families.

Authors: Aslam F Wajid M Butt AI et al.

Source: Scientific reports [Sci Rep] 2026 Jan 28; Vol. 16 (1), pp. 6529. Date of Electronic Publication: 2026 Jan 28.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

Global prevalence and predictors of depression and anxiety in patients with liver cirrhosis: a systematic review and meta-analysis.

Authors: Abureesh, Omar Al-Shraideh, Araek Sleiman, Joelle et al.

Source: Frontiers in Epidemiology. 2026, p1-10. 10p.

Identification of Two Siblings with PMM2-Congenital Disorder of Glycosylation Using Exome Sequencing in South East of Iran: Clinical and Genetic Findings.

Authors: Mir, Atefeh Khajeh, Ali Song, Yongjun et al.

Source: Zahedan Journal of Research in Medical Sciences. Apr2026, Vol. 28 Issue 2, p1-8. 8p.

Phenocopies of 22q11.2DS: revealing genetic diversity in clinically suspected 22q11.2 deletion syndrome.

Authors: Szumutku F Lengyel A Pinti É et al.

Source: Molecular and cellular pediatrics [Mol Cell Pediatr] 2026 Apr 30; Vol. 13 (1). Date of Electronic Publication: 2026 Apr 30.

Publication Type: Journal Article

Journal Info: Publisher: Springer Country of Publication: Germany NLM ID: 101660689 Publication Model: Electronic Cited Medium: Print ISSN: 2194-7791 (Print) Linking ISSN: 21947791 NLM ISO Abbreviation: Mol Cell Pediatr Subsets: PubMed not MEDLINE

ASO Author Reflections: The Safety Analysis and Potential Indications of Simultaneous Cholecystectomy for Gastric Cancer.

Authors: Gao Z Qi X Zhou H et al.

Source: Annals of surgical oncology [Ann Surg Oncol] 2023 Mar; Vol. 30 (3), pp. 1755-1756. Date of Electronic Publication: 2022 Nov 17.

Publication Type: Journal Article; Comment

Journal Info: Publisher: Springer Country of Publication: United States NLM ID: 9420840 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1534-4681 (Electronic) Linking ISSN: 10689265 NLM ISO Abbreviation: Ann Surg Oncol Subsets: MEDLINE

Genetic variants in NHEJ1 and related DNA repair disorders: insights into phenotypic heterogeneity and links to hypoplastic myelodysplastic syndromes and familial hematological malignancies susceptibility.

Authors: Elbadry MI Abdelkreem E Tawfeek A et al.

Source: Annals of hematology [Ann Hematol] 2025 Mar; Vol. 104 (3), pp. 1633-1653. Date of Electronic Publication: 2025 Mar 06.

Publication Type: Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 9107334 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0584 (Electronic) Linking ISSN: 09395555 NLM ISO Abbreviation: Ann Hematol Subsets: MEDLINE

Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support Program.

Authors: Khang R Lee H Kim J et al.

Source: Human mutation [Hum Mutat] 2025 Feb 27; Vol. 2025, pp. 6096758. Date of Electronic Publication: 2025 Feb 27 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: eCollection Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders.

Authors: Han H Seo GH Hyun SI et al.

Source: NPJ genomic medicine [NPJ Genom Med] 2025 Jan 22; Vol. 10 (1), pp. 6. Date of Electronic Publication: 2025 Jan 22.

Publication Type: Journal Article

Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination.

Authors: Suh YA Hwang J Seo GH et al.

Source: Frontiers in pediatrics [Front Pediatr] 2025 Jan 22; Vol. 12, pp. 1488095. Date of Electronic Publication: 2025 Jan 22 (Print Publication: 2024).

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Frontiers Media SA Country of Publication: Switzerland NLM ID: 101615492 Publication Model: eCollection Cited Medium: Print ISSN: 2296-2360 (Print) Linking ISSN: 22962360 NLM ISO Abbreviation: Front Pediatr Subsets: PubMed not MEDLINE

Dual-Genetic Etiology in an Atypical Dent Disease Phenotype Which Combines Features of Focal Segmental Glomerulosclerosis and Ellis-Van Creveld-Like Syndrome: A Case Report.

Authors: Del Prete, Dorella Ceol, Monica Giannella, Alessandra et al.

Source: Case Reports in Nephrology & Dialysis. Nov2025, Vol. 16 Issue 1, p1-9. 9p. 2 Illustrations.