Search Results - "Burkardt D"

Clinical and Morphological Bone Marrow Characteristics of Pearson Syndrome: About Three Consecutive Cases and Review of the Literature.

Authors: Degroot, Gaetan-Nagim Empain, Aurélie Dedeken, Laurence et al.

Source: Case Reports in Pediatrics. 5/18/2025, Vol. 2025, p1-9. 9p.

Correspondence on "The Clinical Geneticist Workforce: Community Forums to Address Challenges and Opportunities" by Chung et al.

Authors: Micham J Summar M Regier D et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Dec; Vol. 26 (12), pp. 101247. Date of Electronic Publication: 2024 Sep 03.

Publication Type: Letter

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE; In Process

An EED/PRC2‐H19 Loop Regulates Cerebellar Development.

Authors: Liu, Pei‐Pei Han, Xiao Li, Xiao et al.

Source: Advanced Science. 1/9/2025, Vol. 12 Issue 1, p1-16. 16p.

Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection.

Authors: Cui, Li‐min Hu, Hua‐ying Zhai, Xiao‐mei et al.

Source: Molecular Genetics & Genomic Medicine. Jan2025, Vol. 13 Issue 1, p1-13. 13p.

Identification of Ferroptosis-related Genes Associated with the Prognosis of Hepatocellular Carcinoma.

Authors: Yan K Hu F Tang H et al.

Source: Cell biochemistry and biophysics [Cell Biochem Biophys] 2026 Jun 25. Date of Electronic Publication: 2026 Jun 25.

Publication Type: Journal Article

Journal Info: Publisher: Humana Press Country of Publication: United States NLM ID: 9701934 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1559-0283 (Electronic) Linking ISSN: 10859195 NLM ISO Abbreviation: Cell Biochem Biophys Subsets: MEDLINE

A Rahman Syndrome mutation in histone H1.4 disrupts chromatin compaction and phase separation.

Authors: Boopathi R Garcia-Saez I Turunç S et al.

Source: Nature communications [Nat Commun] 2026 May 22; Vol. 17 (1). Date of Electronic Publication: 2026 May 22.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Unveiling the Role of Histone Methyltransferases in Psoriasis Pathogenesis: Insights from Transcriptomic Analysis.

Authors: Romhányi, Dóra Bessenyei, Ágnes Szabó, Kornélia et al.

Source: International Journal of Molecular Sciences. Jul2025, Vol. 26 Issue 13, p6329. 37p.

LncRNA‐MEG3 Regulates Muscle Mass and Metabolic Homeostasis by Facilitating SUZ12 Liquid–Liquid Phase Separation.

Authors: Yao, Yilong Yan, Chao Huang, Haibo et al.

Source: Advanced Science. 6/20/2025, Vol. 12 Issue 23, p1-23. 23p.

A case report of a novel HIST1H1E mutation and a review of the bibliography to evaluate the genotype–phenotype correlations.

Authors: Zhao, Wenjing Zhang, Yinhong Lv, Tao et al.

Source: Molecular Genetics & Genomic Medicine. Dec2023, Vol. 11 Issue 12, p1-8. 8p.

Major clinical improvement in a boy with developmental disabilities and a PTPN4 mutation with intensive re-education and an enriched environment in a day care hospital: a case report.

Authors: Tasu C Oppetit A Galbert C et al.

Source: Journal of medical case reports [J Med Case Rep] 2026 Mar 03; Vol. 20 (1). Date of Electronic Publication: 2026 Mar 03.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101293382 Publication Model: Electronic Cited Medium: Internet ISSN: 1752-1947 (Electronic) Linking ISSN: 17521947 NLM ISO Abbreviation: J Med Case Rep Subsets: MEDLINE

A novel spliceosomopathy caused by de novo SF3B3 variants.

Authors: Musante L Janos P Pianigiani G et al.

Source: Genome medicine [Genome Med] 2026 Feb 19; Vol. 18 (1). Date of Electronic Publication: 2026 Feb 19.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE

Human Capital and Knowledge Management in Innovative Organizations.

Authors: Stoyanov, Ivaylo¹

Source: KSI Transactions on Knowledge Society. Dec2014, Vol. 7 Issue 4, p23-29. 7p.

Identification of Immune-Related Biomarkers of Schizophrenia in the Central Nervous System Using Bioinformatic Methods and Machine Learning Algorithms.

Authors: Weng J Zhu X Ouyang Y et al.

Source: Molecular neurobiology [Mol Neurobiol] 2025 Mar; Vol. 62 (3), pp. 3226-3243. Date of Electronic Publication: 2024 Sep 07.

Publication Type: Journal Article

Journal Info: Publisher: Humana Press Country of Publication: United States NLM ID: 8900963 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1559-1182 (Electronic) Linking ISSN: 08937648 NLM ISO Abbreviation: Mol Neurobiol Subsets: MEDLINE

Identification of genomic regions distorting population structure inference in diverse continental groups.

Authors: Qiuxuan Liu Degang Wu Chaolong Wang

Source: Quantitative Biology. Sep2022, Vol. 10 Issue 3, p287-298. 12p.

Hmga2 protein loss alters nuclear envelope and 3D chromatin structure.

Authors: Divisato, Giuseppina Chiariello, Andrea M. Esposito, Andrea et al.

Source: BMC Biology. 8/2/2022, Vol. 20 Issue 1, p1-19. 19p.

PTPN4 germline variants result in aberrant neurodevelopment and growth.

Authors: Chmielewska JJ Burkardt D Granadillo JL et al.

Source: HGG advances [HGG Adv] 2021 Jul 08; Vol. 2 (3). Date of Electronic Publication: 2021 Apr 05.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: PubMed not MEDLINE

Expanding the mutational spectrum of Rahman syndrome: A rare disorder with severe intellectual disability and particular facial features in two Chinese patients.

Authors: Zhao, Jianbo Lyu, Guizhen Ding, Changhong et al.

Source: Molecular Genetics & Genomic Medicine. Mar2022, Vol. 10 Issue 3, p1-16. 16p.

Single-Cell RNA Sequencing Reveals Differences in Chromatin Remodeling and Energy Metabolism among In Vivo-Developed, In Vitro-Fertilized, and Parthenogenetically Activated Embryos from the Oocyte to 8-Cell Stages in Pigs.

Authors: Fan, Jianlin Liu, Chang Zhao, Yunjing et al.

Source: Animals (2076-2615). Feb2024, Vol. 14 Issue 3, p465. 21p.

Genome‐wide association study for conformation traits in Ayrshire cattle.

Authors: Azovtseva, Anastasiia Ivanovna Pozovnikova, Marina Vladimirovna Shcherbakov, Yuriy Sergheevich et al.

Source: Animal Science Journal. Jan2024, Vol. 95 Issue 1, p1-10. 10p.

Zeste 基因抑制子基因 12 在糖尿病肾脏病模型大鼠肾组织中的表达.

Alternate Title: Expression of suppressor of Zeste 12 in kidney tissues of rats with diabetic nephropathy.

Authors: 赵 璐 赵逸菲 高 达 et al.

Source: Chinese Journal of Tissue Engineering Research / Zhongguo Zuzhi Gongcheng Yanjiu. 3/18/2023, Vol. 27 Issue 8, p1179-1186. 8p.