Publication catalog

Biomedical publications with connected research

Browse 1,060,000 source-attributed publications. Article pages show available bibliographic context, indexed concepts and SPECTER2 related publications where supported by the source and graph. Missing metadata is not invented, and source retraction notices remain visible.

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Publications

Page 9352 of 10600

Large scale sequence-based screen for recessive variants allows for identification and monitoring of rare deleterious variants in pigs.
PLoS genetics | 2024-01-01 | PMID 38198533
Boshove Anne, Derks Martijn F L, Sevillano Claudia A and 5 more
Genes: CCND2, CDHR2, MC4R, OBSL1
Allele-specific control of rodent and human lncRNA KMT2E-AS1 promotes hypoxic endothelial pathology in pulmonary hypertension.
Science translational medicine | 2024-01-10 | PMID 38198571
Tai Yi-Yin, Yu Qiujun, Tang Ying and 49 more
Genes: KMT2E, PAH
Experimental and Theoretical Mutation of Exciton States on the Smallest Type-I Photosynthetic Reaction Center Complex of a Green Sulfur Bacterium Chlorobaclum tepidum.
The journal of physical chemistry. B | 2024-01-25 | PMID 38198639
Kimura Akihiro, Kitoh-Nishioka Hirotaka, Kondo Toru and 3 more
Genetic predisposition of LEPR (rs1137101) gene polymorphism related to type 2 diabetes mellitus - a meta-analysis.
Annals of medicine | 2023-01-01 | PMID 38198642
Veerabathiran Ramakrishnan, P Aswathi, Bk Iyshwarya and 2 more
Uncovering the link between diabetes and cardiovascular diseases: insights from adipose-derived stem cells.
Canadian journal of physiology and pharmacology | 2024-04-01 | PMID 38198660
Meechem Megan B, Jadli Anshul S, Patel Vaibhav B
Serum 25-Hydroxyvitamin D, Vitamin D Receptor, and Vitamin-D-Binding Protein Gene Polymorphisms and Risk of Dementia Among Older Adults With Prediabetes.
The journals of gerontology. Series A, Biological sciences and medical sciences | 2024-04-01 | PMID 38198699
Zhou Chun, Gan Xiaoqin, Ye Ziliang and 7 more
Joint Linkage and Association Analysis Using GENEHUNTER-MODSCORE with an Application to Familial Pancreatic Cancer.
Human heredity | 2024-01-01 | PMID 38198765
Brugger Markus, Lutz Manuel, Müller-Nurasyid Martina and 5 more
The Association of Glaucoma with Ischemic Stroke and Functional Outcome after Ischemic Stroke from the Perspective of Causality.
Cerebrovascular diseases (Basel, Switzerland) | 2024-01-01 | PMID 38198782
He Qiang, Wang Wenjing, Xu Dingkang and 4 more
TIMely connections: APOE4, aging, and Alzheimer's.
Immunity | 2024-01-09 | PMID 38198855
Li Qingyun
Influence of forkhead box protein 3 gene polymorphisms in recurrent pregnancy loss: A meta-analysis.
Placenta | 2024-02-01 | PMID 38198891
Bamba Chitra, Rohilla Minakshi, Kumari Anu and 2 more
LncEDCH1 g.1703613 T>C regulates chicken carcass traits by targeting miR-196-2-3p.
Poultry science | 2024-03-01 | PMID 38198912
Yuan Rongshuai, Cai Bolin, Ma Manting and 5 more
Isolation and identification of a duck-derived Japanese encephalitis virus and evaluation of its virulence in mice.
Veterinary microbiology | 2024-03-01 | PMID 38198922
Li Chenxi, Zhang Linjie, Tang Chenyang and 2 more
Therapeutic strategy using novel RET/YES1 dual-target inhibitor in lung cancer.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie | 2024-02-01 | PMID 38198957
Choi Yong June, Choi Munkyung, Park Jaewoo and 10 more
Response of Bacillus velezensis 83 to interaction with Colletotrichum gloeosporioides resembles a Greek phalanx-style formation: A stress resistant phenotype with antibiosis capacity.
Microbiological research | 2024-03-01 | PMID 38199003
Luna-Bulbarela Agustín, Romero-Gutiérrez María Teresa, Tinoco-Valencia Raunel and 4 more
Neonatal-onset pulmonary alveolar proteinosis is a phenotype associated with poor outcomes in surfactant protein-C disorder.
Early human development | 2024-02-01 | PMID 38199047
Honjo Ryota, Cho Kazutoshi, Hashimoto Kahoko and 5 more
Genes: SFTPC
Generation of induced pluripotent stem cell line from a patient suffering from arterial calcification due to deficiency of CD73 (ACDC).
Stem cell research | 2024-03-01 | PMID 38199067
Tripathi Dipti, Manhas Amit, Noishiki Chikage and 6 more
Genes: NT5E
Social network analysis of cell networks improves deep learning for prediction of molecular pathways and key mutations in colorectal cancer.
Medical image analysis | 2024-04-01 | PMID 38199068
Zamanitajeddin Neda, Jahanifar Mostafa, Bilal Mohsin and 2 more
Genes: BRAF, TP53
Singlet oxygen-based photoelectrochemical detection of single-point mutations in the KRAS oncogene.
Biosensors & bioelectronics | 2024-04-01 | PMID 38199080
Daems Elise, Bassini Simone, Mariën Laura and 9 more
Investigation of the linkage between TNF-alfa rs1800629 polymorphism and preeclampsia risk: A meta-analysis.
Cytokine | 2024-03-01 | PMID 38199085
Shafiul Hossen Md, Abdul Aziz Md, Abdul Barek Md and 1 more
Causal Associations of Education Level With Cardiovascular Diseases, Cardiovascular Biomarkers, and Socioeconomic Factors.
The American journal of cardiology | 2024-02-15 | PMID 38199144
Hu Mengjin, Yang Tao, Yang Yuejin
Single-cell investigative genetics: Single-cell data produces genotype distributions concentrated at the true genotype across all mixture complexities.
Forensic science international. Genetics | 2024-03-01 | PMID 38199167
Grgicak Catherine M, Bhembe Qhawe, Slooten Klaas and 3 more
Synergy and antagonism between azacitidine and FLT3 inhibitors.
Computers in biology and medicine | 2024-02-01 | PMID 38199214
Yang Jingmei, Friedman Ran
The genome-wide association study of serum IgE levels demonstrated a shared genetic background in allergic diseases.
Clinical immunology (Orlando, Fla.) | 2024-03-01 | PMID 38199299
Lu Hsing-Fang, Chou Chen-Hsing, Lin Ying-Ju and 8 more
Design, synthesis, and evaluation of dual EGFR/AURKB inhibitors as anticancer agents for non-small cell lung cancer.
Bioorganic & medicinal chemistry letters | 2024-03-01 | PMID 38199330
Kurup Sonali, Gesinski Dayna, Assaad Kaitlin and 1 more
Sleep patterns, genetic predisposition, and risk of chronic liver disease: A prospective study of 408,560 UK Biobank participants.
Journal of affective disorders | 2024-05-01 | PMID 38199417
Wang Wenxiu, Zhuang Zhenhuang, Song Zimin and 2 more
Synchronous enhancement of astaxanthin and lipid accumulation in Haematococcus lacustris through co-mutation of ethanol and atmospheric and room temperature plasma: Exploration of characteristics and underlying mechanisms.
Bioresource technology | 2024-02-01 | PMID 38199438
Ma Yihua, Sun Xin, Sun Youreng and 3 more
Therapeutic potential of combating cancer by restoring wild-type p53 through mRNA nanodelivery.
Nanomedicine : nanotechnology, biology, and medicine | 2024-02-01 | PMID 38199451
Kamath Divya, Iwakuma Tomoo, Bossmann Stefan H
Diversity of Gibberellin 2-oxidase genes in the barley genome offers opportunities for genetic improvement.
Journal of advanced research | 2024-12-01 | PMID 38199453
Cheng Jingye, Jia Yong, Hill Camilla and 7 more
Evaluating ClinGen variant curation expert panels' application of PVS1 code.
European journal of medical genetics | 2024-02-01 | PMID 38199457
Wang Xiaoyan, Li Haibo, Luo Haiyan and 4 more
Sublobar Resection in Early Non-Small Cell Lung Cancer With Epidermal Growth Factor Receptor Mutant.
The Annals of thoracic surgery | 2024-08-01 | PMID 38199462
Mimae Takahiro, Miyata Yoshihiro, Tsubokawa Norifumi and 5 more
Insights into the Structural Basis of Amyloid Resistance Provided by Cryo-EM Structures of AApoAII Amyloid Fibrils.
Journal of molecular biology | 2024-02-15 | PMID 38199491
Andreotti Giada, Baur Julian, Ugrina Marijana and 8 more
Irritable Bowel Syndrome Is Associated With Brain Health by Neuroimaging, Behavioral, Biochemical, and Genetic Analyses.
Biological psychiatry | 2024-06-15 | PMID 38199582
Li Zeyu, Ma Qing, Deng Yueting and 11 more
Patient-derived tumor organoids with p53 mutations, and not wild-type p53, are sensitive to synergistic combination PARP inhibitor treatment.
Cancer letters | 2024-03-01 | PMID 38199587
Madorsky Rowdo Florencia P, Xiao Gu, Khramtsova Galina F and 23 more
Toxoplasmosis outbreak caused by north American genotypes in captive black-tufted marmosets in southern Brazil.
Veterinary parasitology, regional studies and reports | 2024-01-01 | PMID 38199681
Marian Lucas, Withoeft Jéssica Aline, Fornara Maria Augusta and 5 more
[A family with developmental glaucoma and microcornea due to novel ADAMTS18 gene mutations].
[Zhonghua yan ke za zhi] Chinese journal of ophthalmology | 2024-01-11 | PMID 38199772
Liu X Y, Tao Y F, Mao Y K and 4 more
PD-L1+ diffuse large B-cell lymphoma with extremely high mutational burden and microsatellite instability due to acquired PMS2 mutation.
Cold Spring Harbor molecular case studies | 2023-12-01 | PMID 38199780
Allbee Andrew W, Gerson James, Yang Guang and 1 more
The diagnostic odyssey of a patient with dihydropyrimidinase deficiency: a case report and review of the literature.
Cold Spring Harbor molecular case studies | 2023-12-01 | PMID 38199782
Albokhari Daniah, Alharbi Ohood, Blesson Alyssa and 1 more
Multidimensional Analysis of a Social Behavior Identifies Regression and Phenotypic Heterogeneity in a Female Mouse Model for Rett Syndrome.
The Journal of neuroscience : the official journal of the Society for Neuroscience | 2024-03-20 | PMID 38199865
Mykins Michael, Bridges Benjamin, Jo Angela and 1 more
Molecular Pathogenesis of Multiple Myeloma: Clinical Implications.
Hematology/oncology clinics of North America | 2024-04-01 | PMID 38199896
Maura Francesco, Bergsagel Peter Leif
Prognostic and predictive biomarkers in non-small cell lung carcinoma.
Pathology | 2024-03-01 | PMID 38199926
Odintsov Igor, Sholl Lynette M
Characterization of Emerging Xanthomonas campestris Isolates on the Nonnative Weed Garlic Mustard (Alliaria petiolata).
Plant disease | 2024-06-01 | PMID 38199962
Tancos Matthew A, Harney-Davila Gabriela, Cipollini Don
Genome, HLA and polygenic risk score analyses for prevalent and persistent cervical human papillomavirus (HPV) infections.
European journal of human genetics : EJHG | 2024-06-01 | PMID 38200081
Adebamowo Sally N, Adeyemo Adebowale, Adebayo Amos and 10 more
Genes: CDH12, LDB2, SMAD2, TPTE2
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder.
European journal of human genetics : EJHG | 2024-03-01 | PMID 38200082
Albuainain Fatimah, Shi Yuwei, Lor-Zade Sarah and 14 more
Genes: TCEAL1
Expanding the phenotype of copy number variations involving NR0B1 (DAX1).
European journal of human genetics : EJHG | 2024-04-01 | PMID 38200083
Veyt Nathalie, Van Buggenhout Griet, Devriendt Koen and 2 more
Genes: NR0B1
High rate of non-vaccine targeted high-risk HPV genotypes circulate among women in Eastern Ethiopia.
Scientific reports | 2024-01-10 | PMID 38200092
Seyoum Ayichew, Seyoum Berhanu, Gure Tadesse and 9 more
C-terminal truncations in IQSEC2: implications for synaptic localization, guanine nucleotide exchange factor activity, and neurological manifestations.
Journal of human genetics | 2024-04-01 | PMID 38200111
Nakashima Moeko, Shiroshima Tomoko, Fukaya Masahiro and 3 more
Public platform with 39,472 exome control samples enables association studies without genotype sharing.
Nature genetics | 2024-02-01 | PMID 38200129
Artomov Mykyta, Loboda Alexander A, Artyomov Maxim N and 1 more
Integrative functional genomic analyses identify genetic variants influencing skin pigmentation in Africans.
Nature genetics | 2024-02-01 | PMID 38200130
Feng Yuanqing, Xie Ning, Inoue Fumitaka and 15 more
Genes: CYB561A3, MITF, OCA2, TRPS1, BLOC1S6, HMG20B, MFSD12
Endogenous melatonin involved in plant salt response by impacting auxin signaling.
Plant cell reports | 2024-01-11 | PMID 38200226
Miao Rongqing, Li Zhiqi, Yuan Yue and 3 more
Cell cycle gene alterations associate with a redistribution of mutation risk across chromosomal domains in human cancers.
Nature cancer | 2024-02-01 | PMID 38200245
Salvadores Marina, Supek Fran
The selection landscape and genetic legacy of ancient Eurasians.
Nature | 2024-01-01 | PMID 38200293
Irving-Pease Evan K, Refoyo-Martínez Alba, Barrie William and 31 more
Genes: LCT
100 ancient genomes show repeated population turnovers in Neolithic Denmark.
Nature | 2024-01-01 | PMID 38200294
Allentoft Morten E, Sikora Martin, Fischer Anders and 65 more
Population genomics of post-glacial western Eurasia.
Nature | 2024-01-01 | PMID 38200295
Allentoft Morten E, Sikora Martin, Refoyo-Martínez Alba and 161 more
Elevated genetic risk for multiple sclerosis emerged in steppe pastoralist populations.
Nature | 2024-01-01 | PMID 38200296
Barrie William, Yang Yaoling, Irving-Pease Evan K and 28 more
A lethal mitonuclear incompatibility in complex I of natural hybrids.
Nature | 2024-02-01 | PMID 38200310
Moran Benjamin M, Payne Cheyenne Y, Powell Daniel L and 20 more
Identification and validation of the association of Janus kinase 2 mutations with the response to immune checkpoint inhibitor therapy.
Inflammation research : official journal of the European Histamine Research Society ... [et al.] | 2024-02-01 | PMID 38200372
Chen Peipei, Long Junyu, Zhang Jiayang and 5 more
Advances in understanding the genetic architecture of antibody response to paratuberculosis in sheep by heritability estimate and LDLA mapping analyses and investigation of candidate regions using sequence-based data.
Genetics, selection, evolution : GSE | 2024-01-10 | PMID 38200416
Usai Mario Graziano, Casu Sara, Sechi Tiziana and 6 more
RNA N6-methyladenosine demethylase FTO targets MOXD1 promoting the malignant phenotype of gastric cancer.
BMC gastroenterology | 2024-01-10 | PMID 38200441
Lai Yuexing, Dong Hairong, Xu Ping and 4 more
The pan-plastome of Hemerocallis citrina reveals new insights into the genetic diversity and cultivation history of an economically important food plant.
BMC plant biology | 2024-01-11 | PMID 38200455
Jia Minlong, Wang Jie, Cao Dongmei and 6 more
Phylogenetically evolutionary analysis provides insights into the genetic diversity and adaptive evolution of porcine deltacoronavirus.
BMC veterinary research | 2024-01-10 | PMID 38200538
Guo Zhenhua, Lu Qingxia, Jin Qianyue and 3 more
Assessment of seed- and seedling-related traits in Santalum album (Indian sandalwood) reveals high adaptive potential.
Journal of biosciences | 2024-01-01 | PMID 38200668
Madhuvanthi Chandramouli K, Eswaran Muthulakshmi, Karthick Thangaraj and 2 more
Role of Genetic Variation in Transcriptional Regulatory Elements in Heart Rhythm.
Cells | 2023-12-19 | PMID 38201209
Jonker Timo, Barnett Phil, Boink Gerard J J and 1 more
Successful Correction by Prime Editing of a Mutation in the RYR1 Gene Responsible for a Myopathy.
Cells | 2023-12-22 | PMID 38201236
Godbout Kelly, Rousseau Joël, Tremblay Jacques P
The Sensitization of Triple-Negative Breast Cancers to Poly ADP Ribose Polymerase Inhibition Independent of BRCA1/2 Mutation Status by Chemically Modified microRNA-489.
Cells | 2023-12-26 | PMID 38201253
Soung Young Hwa, Ju Jingfang, Chung Jun
The Potential Role of Moringa oleifera Lam. Leaf Proteins in Moringa Allergy by Functionally Activating Murine Bone Marrow-Derived Dendritic Cells and Inducing Their Differentiation toward a Th2-Polarizing Phenotype.
Nutrients | 2023-12-19 | PMID 38201837
Xi Chuyu, Li Wenjie, Liu Xiaoxue and 4 more
A Genome-Wide Association Study of Metabolic Syndrome in the Taiwanese Population.
Nutrients | 2023-12-25 | PMID 38201907
Ho Chih-Yi, Lee Jia-In, Huang Shu-Pin and 2 more
Obesity-Resistant Mice on a High-Fat Diet Display a Distinct Phenotype Linked to Enhanced Lipid Metabolism.
Nutrients | 2024-01-04 | PMID 38202000
Milhem Fadia, Skates Emily, Wilson Mickey and 1 more
Mechanistic Insights into Peptide Binding and Deactivation of an Adhesion G Protein-Coupled Receptor.
Molecules (Basel, Switzerland) | 2023-12-27 | PMID 38202747
Adediwura Victor A, Miao Yinglong
Prophage Carriage and Genetic Diversity within Environmental Isolates of Clostridioides difficile.
International journal of molecular sciences | 2023-12-19 | PMID 38203173
Blau Khald, Gallert Claudia
B-Cell Receptor Signaling and Beyond: The Role of Igα (CD79a)/Igβ (CD79b) in Normal and Malignant B Cells.
International journal of molecular sciences | 2023-12-19 | PMID 38203179
Tkachenko Anton, Kupcova Kristyna, Havranek Ondrej
A Functional Single Nucleotide Polymorphism in the 3' Untranslated Region of the Porcine JARID2 Gene Is Associated with Aggressive Behavior of Weaned Pigs after Mixing.
International journal of molecular sciences | 2023-12-19 | PMID 38203196
Yang Huan, Zhang Chunlei, Chao Xiaohuan and 8 more
Lipid-Related Domestication Accounts for the Extreme Cold Sensitivity of Semiwild and Tropic Xishuangbanna Cucumber (Cucumis sativus L. var. xishuangbannanesis).
International journal of molecular sciences | 2023-12-20 | PMID 38203249
Zhang Rui-Jing, Liu Bin, Song Shan-Shan and 7 more
Role of Single-Nucleotide Polymorphisms in Genes Implicated in Capecitabine Pharmacodynamics on the Effectiveness of Adjuvant Therapy in Colorectal Cancer.
International journal of molecular sciences | 2023-12-20 | PMID 38203276
Cura Yasmin, Sánchez-Martín Almudena, Márquez-Pete Noelia and 4 more
The Effect of Complex Alleles of the CFTR Gene on the Clinical Manifestations of Cystic Fibrosis and the Effectiveness of Targeted Therapy.
International journal of molecular sciences | 2023-12-21 | PMID 38203285
Krasnova Maria, Efremova Anna, Bukhonin Artem and 5 more
PSEN1 His214Asn Mutation in a Korean Patient with Familial EOAD and the Importance of Histidine-Tryptophan Interactions in TM-4 Stability.
International journal of molecular sciences | 2023-12-21 | PMID 38203287
Bagyinszky Eva, Kim Minju, Park Young Ho and 2 more
Expanding the Phenotype of Hereditary Congenital Facial Paresis Type 3.
International journal of molecular sciences | 2023-12-21 | PMID 38203298
Murtazina Aysylu, Borovikov Artem, Kuchina Anna and 8 more
BRCA Mutations and Fertility Preservation.
International journal of molecular sciences | 2023-12-22 | PMID 38203374
Dias Nunes Joana, Demeestere Isabelle, Devos Melody
Molecular and Genetic Advances in Small Cell Lung Cancer Landscape: From Homogeneity to Diversity.
International journal of molecular sciences | 2023-12-22 | PMID 38203395
Zullo Lodovica, Dall'Olio Filippo Gustavo, Rossi Giovanni and 6 more
The Metabolically Obese, Normal-Weight Phenotype in Young Rats Is Associated with Cognitive Impairment and Partially Preventable with Leptin Intake during Lactation.
International journal of molecular sciences | 2023-12-22 | PMID 38203399
Cifre Margalida, Palou Andreu, Oliver Paula
Diversity of Clinical and Molecular Characteristics in Korean Patients with 16p11.2 Microdeletion Syndrome.
International journal of molecular sciences | 2023-12-23 | PMID 38203422
Han Ji Yoon, Cho Yong Gon, Jo Dae Sun and 1 more
IPSC-Derived Astrocytes Contribute to In Vitro Modeling of Parkinson's Disease Caused by the GBA1 N370S Mutation.
International journal of molecular sciences | 2023-12-26 | PMID 38203497
Yarkova Elena S, Grigor'eva Elena V, Medvedev Sergey P and 3 more
Increasing the Activity of the High-Fidelity SpyCas9 Form in Yeast by Directed Mutagenesis of the PAM-Interacting Domain.
International journal of molecular sciences | 2023-12-28 | PMID 38203615
Davletshin Artem I, Matveeva Anna A, Bachurin Stanislav S and 2 more
Genome-Wide Association Study Meta-Analysis Elucidates Genetic Structure and Identifies Candidate Genes of Teat Number Traits in Pigs.
International journal of molecular sciences | 2023-12-29 | PMID 38203622
Li Tingting, Wan Pengchong, Lin Qing and 6 more
Aquaporin Expression and Regulation in Clinical and Experimental Sepsis.
International journal of molecular sciences | 2023-12-29 | PMID 38203657
Lotsios Nikolaos S, Keskinidou Chrysi, Dimopoulou Ioanna and 3 more
Characterization of Progranulin Gene Mutations in Portuguese Patients with Frontotemporal Dementia.
International journal of molecular sciences | 2023-12-29 | PMID 38203682
Almeida Maria Rosário, Tábuas-Pereira Miguel, Baldeiras Inês and 6 more
Comprehensive Pan-Cancer Mutation Density Patterns in Enhancer RNA.
International journal of molecular sciences | 2023-12-30 | PMID 38203707
Zhang Troy, Yu Hui, Jiang Limin and 3 more
A Common Polymorphism in RNASE6 Impacts Its Antimicrobial Activity toward Uropathogenic Escherichia coli.
International journal of molecular sciences | 2024-01-03 | PMID 38203775
Anguita Raul, Prats-Ejarque Guillem, Moussaoui Mohammed and 2 more
AtSNP_TATAdb: Candidate Molecular Markers of Plant Advantages Related to Single Nucleotide Polymorphisms within Proximal Promoters of Arabidopsis thaliana L.
International journal of molecular sciences | 2024-01-03 | PMID 38203780
Bogomolov Anton, Zolotareva Karina, Filonov Sergey and 13 more
Phosphoramidate Azole Oligonucleotides for Single Nucleotide Polymorphism Detection by PCR.
International journal of molecular sciences | 2024-01-03 | PMID 38203788
Chubarov Alexey S, Baranovskaya Elizaveta E, Oscorbin Igor P and 5 more
Novel Alleles from Cicer reticulatum L. for Genetic Improvement of Cultivated Chickpeas Identified through Genome Wide Association Analysis.
International journal of molecular sciences | 2024-01-04 | PMID 38203819
Rahman Mohammad Waliur, Deokar Amit A, Lindsay Donna and 1 more
The Current Situation and Development Prospect of Whole-Genome Screening.
International journal of molecular sciences | 2024-01-04 | PMID 38203828
Yang Caiting, Lei Yu, Ren Tinglin and 1 more
A Million-Cow Validation of a Chromosome 14 Region Interacting with All Chromosomes for Fat Percentage in U.S. Holstein Cows.
International journal of molecular sciences | 2024-01-04 | PMID 38203848
Prakapenka Dzianis, Liang Zuoxiang, Zaabza Hafedh B and 3 more
Secretome Analyses Identify FKBP4 as a GBA1-Associated Protein in CSF and iPS Cells from Parkinson's Disease Patients with GBA1 Mutations.
International journal of molecular sciences | 2024-01-04 | PMID 38203854
Kojima Rika, Paslawski Wojciech, Lyu Guochang and 3 more
Extended phenotypic characterization of a novel Helsmoortel-van der Aa syndrome case series.
American journal of medical genetics. Part A | 2024-05-01 | PMID 38204290
Pascolini Giulia, Di Zenzo Giovanni, Panebianco Annarita and 2 more
The first case of combined oxidative phosphorylation deficiency-1 due to a GFM1 mutation in the Serbian population: a case report and literature review.
The Turkish journal of pediatrics | 2023-01-01 | PMID 38204316
Aleksic Dejan, Jankovic Marina Gazdic, Todorovic Stefan and 2 more
Novel sphingosine-1-phosphate lyase mutation causes multisystemic diseases: case report.
The Turkish journal of pediatrics | 2023-01-01 | PMID 38204317
Büyükyılmaz Gönül, Adıgüzel Keziban Toksoy, Aksoy Özlem Yüksel and 6 more
A novel homozygous mutation in the USP53 gene as the cause of benign recurrent intrahepatic cholestasis in children: a case report.
The Turkish journal of pediatrics | 2023-01-01 | PMID 38204320
Ateş Burcu Berberoğlu, Ceylan Ahmet Cevdet, Hızal Gülin and 3 more
Characterization and natural history of different phenotypes in hereditary transthyretin amyloidosis: 40-year experience at a single Italian referral centre.
European journal of preventive cardiology | 2024-05-11 | PMID 38204330
Caponetti Angelo Giuseppe, Sguazzotti Maurizio, Accietto Antonella and 15 more
Assessing genome-wide adaptations associated with range expansion in the pink rice borer, Sesamia inferens.
Insect science | 2024-10-01 | PMID 38204333
Li Hongran, Peng Yan, Wu Chao and 8 more
Sequential Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitor-Induced Radical Surgery in Oligometastatic Non-Small Cell Lung Cancer: A Case Report.
The oncologist | 2024-06-03 | PMID 38204337
Wang Huaiyu, Fan Zaiwen, Yang Xiaoming and 8 more
Genes: EGFR