EGFR co-mutation is associated with the risk of recurrence in invasive lung adenocarcinoma with the micropapillary component.
Asian journal of surgery | 2024-01-01 | PMID 37574361
Kang Haixin, Lv Haiyan, Tung Tao-Hsin and 10 more
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 9247 of 10600
Efficacy of National Comprehensive Cancer Network Guidelines in Identifying Pathogenic Germline Variants Among Unselected Patients with Prostate Cancer: The PROCLAIM Trial.
European urology oncology | 2023-10-01 | PMID 37574391
Shore Neal, Gazi Mukaram, Pieczonka Christopher and 25 more
Whole-Exome sequencing identifies GYS2 biallelic variants in individuals with suspected epilepsy.
Seizure | 2024-03-01 | PMID 37574425
Ilyas Muhammad, Holzwarth Dorothea, Ishaq Rafaqat and 12 more
ATP6V1A variants are associated with childhood epilepsy with favorable outcome.
Seizure | 2024-03-01 | PMID 37574426
Li Bin, Lan Song, Liu Xiao-Rong and 8 more
X-linked neuronal migration disorders: Gender differences and insights for genetic screening.
International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience | 2023-11-01 | PMID 37574439
Edey Juliet, Soleimani-Nouri Payam, Dawson-Kavanagh Amelia and 2 more
DICER1 Mutations Do Not Always Indicate Dismal Prognosis in Pediatric Poorly Differentiated Thyroid Carcinomas.
Endocrine pathology | 2023-09-01 | PMID 37574466
Yegen Gülçin, Altay Ali Yılmaz, Yılmaz İsmail and 5 more
Assays with Patient-Derived Organoids to Evaluate the Impact of Microbial Infection on Base Excision Repair (BER) Enzymes.
Methods in molecular biology (Clifton, N.J.) | 2023-01-01 | PMID 37574481
Sayed Ibrahim M, Chakraborty Anirban, Das Soumita
Bioinformatic analysis of KIT juxtamembrane domain mutations in Syrian GIST patients: jigsaw puzzle completed.
Journal of the Egyptian National Cancer Institute | 2023-08-14 | PMID 37574490
Pharaon Nour, Habbal Wafa, Monem Fawza
Genes: KIT
Novel mutations in DNAH17 cause sperm flagellum defects and their influence on ICSI outcome.
Journal of assisted reproduction and genetics | 2023-10-01 | PMID 37574497
Song Bing, Yang Tianjin, Shen Qunshan and 6 more
A novel splicing mutation in helicase for meiosis 1 leads to non-obstructive azoospermia.
Journal of assisted reproduction and genetics | 2023-10-01 | PMID 37574498
Yao Liangyu, Ge Yifeng, Du Tian and 3 more
Clinical availability and characteristics of multigene panel testing for recurrent/advanced gynecologic cancer.
International journal of clinical oncology | 2023-11-01 | PMID 37574505
Kitazawa Shoko, Chiyoda Tatsuyuki, Nakamura Kohei and 9 more
Exploring the Neandertal legacy of pancreatic ductal adenocarcinoma risk in Eurasians.
Biological research | 2023-08-13 | PMID 37574541
Piccardi Margherita, Gentiluomo Manuel, Bertoncini Stefania and 70 more
Did the early full genome sequencing of yeast boost gene function discovery?
Biology direct | 2023-08-14 | PMID 37574542
Tantoso Erwin, Eisenhaber Birgit, Sinha Swati and 2 more
The association between screen time and genetic risks for neurodevelopmental disorders in children.
Psychiatry research | 2023-09-01 | PMID 37574599
Takahashi Nagahide, Tsuchiya Kenji J, Okumura Akemi and 6 more
Functional characterization of African swine fever virus I329L gene by transcriptome analysis.
Veterinary microbiology | 2023-09-01 | PMID 37574636
Duan Xianghan, Wen Yuan, Wu Panxue and 7 more
Expanding the clinical and immunological phenotype of prolidase deficiency: A case report.
Pediatric dermatology | 2000-01-01 | PMID 37574707
Basu Suprit, Barman Prabal, Das Jhumki and 5 more
Humanization of the mdx Mouse Phenotype for Duchenne Muscular Dystrophy Modeling: A Metabolic Perspective.
Journal of neuromuscular diseases | 2023-01-01 | PMID 37574742
Donen Graham, Milad Nadia, Bernatchez Pascal
Search Strategies for Alzheimer Protector Genes.
Annals of neurology | 2023-10-01 | PMID 37574772
Kosik Kenneth S
Continued dominance of dengue virus serotype 2 during the recent Central India outbreaks (2019-2021) with evidence of genetic divergence.
Pathogens and global health | 2024-03-01 | PMID 37574815
Agarwal Ankita, Ganvir Ruchi, Kale Dipesh and 2 more
OsbHLH92, in the noncanonical brassinosteroid signaling pathway, positively regulates leaf angle and grain weight in rice.
The New phytologist | 2023-11-01 | PMID 37574840
Teng Shouzhen, Liu Qiming, Chen Guoxin and 7 more
Effect of food and polymorphisms in SLCO2B1, CYP3A4 and UGT1A4 on pharmacokinetics of abiraterone and its metabolites in Chinese volunteers.
British journal of clinical pharmacology | 2024-01-01 | PMID 37574850
Hu Yixin, Wu Jianyuan, Cheng Bingyu and 10 more
Significant heterogeneity in management of calreticulin-mutated essential thrombocythemia and its progression to myelofibrosis: results of a national survey.
Leukemia & lymphoma | 2023-12-01 | PMID 37574855
Murton Alexandra, Forsyth Cecily, Ross David M and 1 more
A genome-wide analysis of the GRAS gene family in upland cotton and a functional study of the role of the GhGRAS55 gene in regulating early maturity in cotton.
Biotechnology journal | 2023-12-01 | PMID 37575005
Xie Zhangshu, Yang Dan, Zhou Zhenzhong and 5 more
Combining deep mutational scanning to heatmap of HLA class II binding of immunogenic sequences to preserve functionality and mitigate predicted immunogenicity.
Frontiers in immunology | 2023-01-01 | PMID 37575221
Sivelle Coline, Sierocki Raphael, Lesparre Youen and 7 more
Driver Mutations of Pancreatic Cancer Affect Ca2+ Signaling and ATP Production.
Function (Oxford, England) | 2023-01-01 | PMID 37575483
Stopa Kinga B, Łoziński Filip, Kusiak Agnieszka A and 6 more
Prevalence of multidrug-resistant and extensively drug-resistant phenotypes of Gram-negative bacilli isolated in clinical specimens at Centre Hospitalo-Universitaire Ibn Rochd, Morocco.
The Pan African medical journal | 2023-01-01 | PMID 37575518
Zalegh Imane, Chaoui Laila, Maaloum Fakhreddine and 2 more
Building an optimal predictive model for imputing tissue-specific gene expression by combining genotype and whole-blood transcriptome data.
HGG advances | 2023-10-12 | PMID 37576186
Jung Sunwoo, Lee Cue Hyunkyu, Sul Jae Hoon and 1 more
Genetic and morphological diversity in populations of Annona senegalensis Pers. occurring in Western (Benin) and Southern (Mozambique) Africa.
PeerJ | 2023-01-01 | PMID 37576509
Donhouedé Janine Conforte Fifonssi, Marques Isabel, Salako Kolawolé Valère and 3 more
The identification of high-performing antibodies for Profilin-1 for use in Western blot, immunoprecipitation and immunofluorescence.
F1000Research | 2023-01-01 | PMID 37576538
Ayoubi Riham, McDowell Ian, Fotouhi Maryam and 3 more
Application of single-cell omics in inflammatory bowel disease.
World journal of gastroenterology | 2023-07-28 | PMID 37576705
Zheng Hengqi Betty
The International SCN8A Patient Registry: A Scientific Resource to Advance the Understanding and Treatment of a Rare Pediatric Neurodevelopmental Syndrome.
Journal of registry management | 2023-01-01 | PMID 37577282
Andrews Jennifer G, Galindo Maureen Kelly, Hack Joshua B and 3 more
Genetically Determined Rheumatoid Arthritis May Not Affect Heart Failure: Insights from Mendelian Randomization Study.
Global heart | 2023-01-01 | PMID 37577292
Lin Xueqi, Zhou Miaomiao, Zhang Chunsheng and 1 more
De novo CLPTM1 variants with reduced GABAA R current response in patients with epilepsy.
Epilepsia | 2023-11-01 | PMID 37577761
Liu Nana, Li Jinliang, Gao Kai and 8 more
Continuation of osimertinib in EGFR-mutant non-small-cell lung cancer patients bearing CNS metastasis (EPONA study).
Future oncology (London, England) | 2023-07-01 | PMID 37577772
Okuma Yusuke, Nomura Shogo, Ninomiya Kiichiro and 7 more
The relationship between APOE genotype, CSF Tau and cognition across the Alzheimer's disease spectrum, moderation and mediation role of insula network connectivity.
CNS neuroscience & therapeutics | 2024-01-01 | PMID 37577852
Zhu Yao, Wu Yan, Lv Xinyi and 4 more
Diagnosis of Immunoglobulin G4-related disease in a child with ligneous conjunctivitis: a novel mutation in plasminogen gene and plasminogen activator inhibitor-1 polymorphism.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis | 2023-10-01 | PMID 37577870
Emiroğlu Melike, Bozkurt Banu, Emiroğlu Halil Haldun and 3 more
Association of single nucleotide polymorphisms (4G/5G) of plasminogen activator inhibitor-1 and the risk factors for placenta-related obstetric complications.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis | 2023-09-01 | PMID 37577872
Donmez Hanife Guler, Beksac Mehmet Sinan
Intrinsic and extrinsic regulation of rhabdomyolysis susceptibility by Tango2.
Disease models & mechanisms | 2023-09-01 | PMID 37577943
Kim Euri S, Casey Jennifer G, Tao Brian S and 5 more
A comparison of genomic diversity and demographic history of the North Atlantic and Southwest Atlantic southern right whales.
Molecular ecology | 2024-10-01 | PMID 37577945
Crossman Carla A, Fontaine Michael C, Frasier Timothy R
Possible development and resolution of dilated cardiomyopathy phenotype secondary to atypical hypoadrenocorticism in a dog.
Journal of veterinary emergency and critical care (San Antonio, Tex. : 2001) | 2000-01-01 | PMID 37577957
Riggs Alexandra H, Rhinehart Jaylyn, Cooper Edward S
An oligogenic case of severe neonatal thrombocytopenia and a purportedly benign variant in GFI1B requiring reinterpretation.
Platelets | 2023-12-01 | PMID 37577973
Frenkel Max, Hall April, Meyn M Stephen and 1 more
Involvement of casein kinase 1 epsilon/delta (Csnk1e/d) in the pathogenesis of familial Parkinson's disease caused by CHCHD2.
EMBO molecular medicine | 2023-09-11 | PMID 37578019
Torii Satoru, Arakawa Satoko, Sato Shigeto and 9 more
ARID5B, IKZF1, GATA3, CEBPE, and CDKN2A germline polymorphisms and predisposition to childhood acute lymphoblastic leukemia.
Pediatric hematology and oncology | 2024-01-01 | PMID 37578068
Al-Zayan Nermeen R, Ashour Mohammed J, Abuwarda Hadeer N and 1 more
Circulating white blood cell traits and colorectal cancer risk: A Mendelian randomisation study.
International journal of cancer | 2024-01-01 | PMID 37578112
Constantinescu Andrei-Emil, Bull Caroline J, Jones Nicholas and 17 more
Developing a Gene Therapy for the Treatment of Autosomal Dominant Alzheimer's Disease.
Human gene therapy | 2023-10-01 | PMID 37578141
Moore Benjamin, Sharma Apurwa, Goulet Martin and 5 more
Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia.
European journal of neurology | 2023-12-01 | PMID 37578187
Iruzubieta Pablo, Pellerin David, Bergareche Alberto and 22 more
Structural evolution of SARS-CoV-2 omicron in human receptor recognition.
Journal of virology | 2023-08-31 | PMID 37578233
Zhang Wei, Shi Ke, Geng Qibin and 7 more
Embryonic stem cell factor FOXD3 (Genesis) defects in gastrointestinal stromal tumors.
Endocrine-related cancer | 2023-10-01 | PMID 37578265
Faucz Fabio R, Horvath Anelia D, Assié Guillaume and 13 more
Assessing a Polygenic Risk Score for Lung Cancer Susceptibility in Non-Hispanic White and Black Populations.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology | 2023-11-01 | PMID 37578347
Trendowski Matthew R, Lusk Christine M, Wenzlaff Angela S and 4 more
Fungicide-Resistant Botrytis in Forest Nurseries May Impact Disease Control in Norway Spruce.
Plant disease | 2024-01-01 | PMID 37578357
Nielsen Katherine Ann Gredvig, Skårn Magne Nordang, Talgø Venche and 5 more
Rod and Cone Function Measured Objectively by Chromatic Pupil Campimetry Show a Different Preservation Between Distinct Genotypes in Retinitis Pigmentosa.
Investigative ophthalmology & visual science | 2023-08-01 | PMID 37578425
Kelbsch Carina, Kempf Melanie, Jung Ronja and 10 more
Development and validation of a mutation-annotated prognostic score for intrahepatic cholangiocarcinoma after resection: a retrospective cohort study.
International journal of surgery (London, England) | 2023-11-01 | PMID 37578492
Wang Xiang-Yu, Zhu Wen-Wei, Lu Lu and 14 more
Comparative neurogenetics of dog behavior complements efforts towards human neuropsychiatric genetics.
Human genetics | 2023-08-01 | PMID 37578529
Morrill Kathleen, Chen Frances, Karlsson Elinor
Ocular manifestations of the genetic causes of focal and segmental glomerulosclerosis.
Pediatric nephrology (Berlin, Germany) | 2024-03-01 | PMID 37578539
Zhu Victor, Huang Tess, Wang David and 3 more
Clinical, epidemiological, and genotypic characteristics of rotavirus infection in hospitalized infants and young children in Yunnan Province.
Archives of virology | 2023-08-14 | PMID 37578547
Jiang Hongjun, Zhang Yu, Xu Xiaoyan and 7 more
Diagnostic Value of MRI Features in Dual-phenotype Hepatocellular Carcinoma: A Preliminary Study.
Journal of digital imaging | 2023-12-01 | PMID 37578576
Gu Hong-Xian, Huang Xiao-Shan, Xu Jian-Xia and 3 more
Molecular phylogeny of plant pathogenic fungi based on start codon targeted (SCoT) polymorphism.
Molecular biology reports | 2023-10-01 | PMID 37578578
Palacıoğlu Gülsüm, Alkan Mehtap, Derviş Sibel and 2 more
Genetic Variants of Adrenoceptors.
Handbook of experimental pharmacology | 2024-01-01 | PMID 37578621
Ahles Andrea, Engelhardt Stefan
Bayesian tests for random mating in polyploids.
Molecular ecology resources | 2023-11-01 | PMID 37578636
Gerard David
Association of 3p21.31 Locus (CXCR6 and LZTFL1) with COVID-19 Outcomes in Brazilian Hospitalyzed Subjects.
Current microbiology | 2023-08-14 | PMID 37578643
de Araújo João Locke Ferreira, Bonifácio Victória Frigério, Batista Lorena Medeiros and 4 more
A pilot study on glutamate receptor and carrier gene variants and risk of childhood autism spectrum.
Metabolic brain disease | 2023-10-01 | PMID 37578654
Liu Jun, Yan Jing, Qu Fei and 4 more
Gene Interaction of Dopaminergic Synaptic Pathway Genes in Attention-Deficit Hyperactivity Disorder: a Case-Control Study in Chinese Children.
Molecular neurobiology | 2024-01-01 | PMID 37578679
Zhong Lin, He Hongyao, Zhang Jing and 4 more
A Knock-In Mouse Model of Cryopyrin-Associated Periodic Syndromes.
Methods in molecular biology (Clifton, N.J.) | 2023-01-01 | PMID 37578730
Bertoni Arinna, Prigione Ignazia, Chiesa Sabrina and 3 more
Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and complex functional properties.
The Journal of general physiology | 2023-10-02 | PMID 37578743
Thompson Christopher H, Potet Franck, Abramova Tatiana V and 5 more
Promising response of dabrafenib, trametinib, and osimertinib combination therapy for concomitant BRAF and EGFR-TKI resistance mutations.
Anti-cancer drugs | 2024-01-01 | PMID 37578745
Chimbangu Clint Taonaishe, Ya Zhou, Xi Li and 5 more
Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility.
PLoS genetics | 2023-08-01 | PMID 37578974
Kumpula Timo A, Vorimo Sandra, Mattila Taneli T and 13 more
DNA repair function scores for 2172 variants in the BRCA1 amino-terminus.
PLoS genetics | 2023-08-01 | PMID 37578980
Diabate Mariame, Islam Muhtadi M, Nagy Gregory and 6 more
From viral load to survival: Unveiling new genetic links for resistance against PMCV in Atlantic Salmon (Salmo salar).
Journal of fish diseases | 2023-11-01 | PMID 37579006
Mogahadam Hooman K, Røsaeg Magnus Vikan
Aggregated Molecular Phenotype Scores: Enhancing Assessment and Visualization of Mass Spectrometry Imaging Data for Tissue-Based Diagnostics.
Analytical chemistry | 2023-08-29 | PMID 37579019
Chappel Jessie R, King Mary E, Fleming Jonathon and 3 more
A pediatric case of autosomal dominant hypocalcemia type 2.
Journal of pediatric endocrinology & metabolism : JPEM | 2023-10-26 | PMID 37579049
Takahashi Satoko, Fuchigami Tatsuo, Suzuki Junichi and 1 more
Genes: GNA11, CASR
Evolutionary history of MEK1 illuminates the nature of deleterious mutations.
Proceedings of the National Academy of Sciences of the United States of America | 2023-08-22 | PMID 37579140
Andrianova Ekaterina P, Marmion Robert A, Shvartsman Stanislav Y and 1 more
Triple-negative breast tumors are dependent on mutant p53 for growth and survival.
Proceedings of the National Academy of Sciences of the United States of America | 2023-08-22 | PMID 37579145
Dibra Denada, Moyer Sydney M, El-Naggar Adel K and 3 more
Genes: TP53
Biochemical pathways represented by Gene Ontology-Causal Activity Models identify distinct phenotypes resulting from mutations in pathways.
Genetics | 2023-10-04 | PMID 37579192
Hill David P, Drabkin Harold J, Smith Cynthia L and 2 more
Leveraging osteoclast genetic regulatory data to identify genes with a role in osteoarthritis.
Genetics | 2023-10-04 | PMID 37579195
Mullin Benjamin H, Zhu Kun, Brown Suzanne J and 10 more
Direct-Acting Antiviral Therapy for Treatment of Acute and Recent Hepatitis C Virus Infection: A Narrative Review.
Clinical infectious diseases : an official publication of the Infectious Diseases Society of America | 2023-08-14 | PMID 37579203
Martinello Marianne, Naggie Susanna, Rockstroh Juergen Kurt and 1 more
Value of genotyping and scar-phenotyping for VT ablation procedures in patients with nonischemic left ventricular cardiomyopathies.
Journal of cardiovascular electrophysiology | 2023-09-01 | PMID 37579221
Kovacs Boldizsar, Ghannam Michael, Liang Jackson and 8 more
Germline EGFR Mutations and Familial Lung Cancer.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2023-12-01 | PMID 37579253
Oxnard Geoffrey R, Chen Ruthia, Pharr Jennifer C and 20 more
Genes: EGFR
Elexacaftor/Tezacaftor/Ivacaftor Improves Bronchial Artery Dilatation Detected by Magnetic Resonance Imaging in Patients with Cystic Fibrosis.
Annals of the American Thoracic Society | 2023-11-01 | PMID 37579262
Wucherpfennig Lena, Triphan Simon M F, Wege Sabine and 7 more
Inflammatory Bowel Disease and Risk of Global Cardiovascular Diseases and Type 2 Diabetes.
Inflammatory bowel diseases | 2024-07-03 | PMID 37579307
Zhu Zhengbao, Jia Yiming, Li Fu-Rong and 12 more
HLA Genotype and Probiotics Modify the Association Between Timing of Solid Food Introduction and Islet Autoimmunity in the TEDDY Study.
Diabetes care | 2023-10-01 | PMID 37579501
Uusitalo Ulla, Mramba Lazarus K, Aronsson Carin Andrén and 13 more
Prediction of Parkinson's disease pathogenic variants using hybrid Machine learning systems and radiomic features.
Physica medica : PM : an international journal devoted to the applications of physics to medicine and biology : official journal of the Italian Association of Biomedical Physics (AIFB) | 2023-09-01 | PMID 37579523
Hajianfar Ghasem, Kalayinia Samira, Hosseinzadeh Mahdi and 5 more
Manganese level and cognitive decline in older adults with the APOE e4 allele: a preliminary study.
Psychiatry research | 2023-09-01 | PMID 37579537
Kim Shin Gyeom, Choe Young Min, Suh Guk-Hee and 7 more
Clinicopathologic and molecular characteristics of small-scale ROS1-mutant non-small cell lung cancer (NSCLC) patients.
Lung cancer (Amsterdam, Netherlands) | 2023-10-01 | PMID 37579577
Glaser Moritz, Rasokat Anna, Prang Darinka and 19 more
Strategy for immunological analysis of pro-inflammatory cytokine marker studies with chronic hepatitis B virus in Southwestern region of Saudi Arabia.
Journal of infection and public health | 2023-10-01 | PMID 37579699
Alshammary Amal F, Farzan Raed, Alsobaie Sarah F and 2 more
Origin of Residual Tumor Masses in BRCA1/2-Driven Ovarian Carcinomas Treated by Neoadjuvant Chemotherapy: Selection of Preexisting BRCA1/2-Proficient Tumor Cells but Not the Gain of Second ORF-Restoring Mutation.
Pathobiology : journal of immunopathology, molecular and cellular biology | 2024-01-01 | PMID 37579727
Sokolenko Anna, Preobrazhenskaya Elena, Marchetti Claudia and 11 more
Use of Immunohistochemical p53 Mutant-Phenotype in Diagnosis of High-Grade Dysplasia of Esophageal Squamous Epithelia.
Digestive diseases (Basel, Switzerland) | 2023-01-01 | PMID 37579733
Xu Yan-Juan, Li Ran, Chen Jiang-Mu and 4 more
Autosomal recessive Leber's hereditary optic neuropathy caused by a homozygous variant in DNAJC30 gene.
European journal of medical genetics | 2023-09-01 | PMID 37579815
Mauring L, Puusepp S, Parik M and 6 more
Association of duration and intensity of exercise with phenotypic expression in hypertrophic cardiomyopathy.
International journal of cardiology | 2023-12-01 | PMID 37579850
Dorian David, Scolari Fernando L, Habib Manhal and 8 more
The rs2601796 variant in ADCY9 gene is associated with severe asthma and less bronchodilator response.
Gene | 2023-11-30 | PMID 37579959
Teixeira Helena M P, Cruz Álvaro A, Jesus Talita S and 8 more
Inferring the genetic relationship between brain imaging-derived phenotypes and risk of complex diseases by Mendelian randomization and genome-wide colocalization.
NeuroImage | 2023-10-01 | PMID 37579999
Lin Siying, Zhang Haoyang, Qi Mengling and 4 more
Deep Learning for Detecting BRCA Mutations in High-Grade Ovarian Cancer Based on an Innovative Tumor Segmentation Method From Whole Slide Images.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc | 2023-11-01 | PMID 37580018
Bourgade Raphaël, Rabilloud Noémie, Perennec Tanguy and 13 more
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.
Clinical genetics | 2023-11-01 | PMID 37580112
Faivre Laurence, Crépin Jean-Charles, Réda Manon and 60 more
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.
Journal of medical genetics | 2024-01-19 | PMID 37580113
Szakszon Katalin, Lourenco Charles Marques, Callewaert Bert Louis and 44 more
Integrating a Polygenic Risk Score into a clinical setting would impact risk predictions in familial breast cancer.
Journal of medical genetics | 2024-01-19 | PMID 37580114
Baliakas Panagiotis, Munters Arielle R, Kämpe Anders and 4 more
Discovering pathways through ribozyme fitness landscapes using information theoretic quantification of epistasis.
RNA (New York, N.Y.) | 2023-11-01 | PMID 37580126
Charest Nathaniel, Shen Yuning, Lai Yei-Chen and 2 more
Genetic diversity, plant growth promotion potential, and antimicrobial activity of culturable endophytic actinobacteria isolated from Aconitum carmichaelii Debeaux.
Journal of applied microbiology | 2023-08-01 | PMID 37580141
Zou Lan, Zhang Yaopeng, Wang Qian and 3 more
In vitro antifungal susceptibility profile and genotypic characterization of clinical Aspergillus isolates in Eastern China on behalf of Eastern China Invasive Fungi Infection Group.
Medical mycology | 2023-09-04 | PMID 37580143
Lin Huiping, Guo Jian, Li Yueting and 5 more
Splicing defects in rare diseases: transcriptomics and machine learning strategies towards genetic diagnosis.
Briefings in bioinformatics | 2023-09-20 | PMID 37580177
Wang Robert, Helbig Ingo, Edmondson Andrew C and 2 more
The causal associations of non-alcoholic fatty liver disease with blood pressure and the mediating effects of cardiometabolic risk factors: A Mendelian randomization study.
Nutrition, metabolism, and cardiovascular diseases : NMCD | 2023-11-01 | PMID 37580235
Zhang Zhuxin, Li Le, Hu Zhao and 4 more
Genes: DBP
[Combined effect of PNPLA3 rs738409 and UGT1A1 rs10929303 gene polymorphisms on nonalcoholic fatty liver disease in children].
Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology | 2023-07-20 | PMID 37580255
Zhang P P, Song J Y, Wang H J and 1 more
Genes: PNPLA3, UGT1A1