Clinical and genetic features of cystic fibrosis in Japan.
Journal of human genetics | 2023-10-01 | PMID 37217688
Kozawa Yuka, Yamamoto Akiko, Nakakuki Miyuki and 14 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 9185 of 10600
Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss.
Journal of human genetics | 2023-10-01 | PMID 37217689
Ramzan Memoona, Duman Duygu, Hendricks LeShon Chere Peart and 21 more
FHB resistance conferred by Fhb1 is under inhibitory regulation of two genetic loci in wheat (Triticum aestivum L.).
TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik | 2023-05-22 | PMID 37217699
Li Guoqiang, Yuan Yang, Zhou Jiyang and 12 more
Addressing the ethical and societal challenges posed by genome-wide association studies of behavioral and brain-related traits.
Nature neuroscience | 2023-06-01 | PMID 37217727
de Hemptinne Matthieu C, Posthuma Danielle
Genomic evolution of bovine viral diarrhea virus based on complete genome and individual gene analyses.
Brazilian journal of microbiology : [publication of the Brazilian Society for Microbiology] | 2023-09-01 | PMID 37217730
Spetter Maximiliano J, Louge Uriarte Enrique L, Verna Andrea E and 2 more
Associations between IGFBP1 gene polymorphisms and the risk of preeclampsia and fetal growth restriction.
Hypertension research : official journal of the Japanese Society of Hypertension | 2023-09-01 | PMID 37217731
Peng Xianglan, He Dong, Peng Rui and 8 more
LncRNA FAS-AS1 upregulated by its genetic variation rs6586163 promotes cell apoptosis in nasopharyngeal carcinoma through regulating mitochondria function and Fas splicing.
Scientific reports | 2023-05-22 | PMID 37217794
Guo Zhen, Li ZiBo, Zhang MengLing and 3 more
Clinical Phenotypes of PCOS: a Cross-Sectional Study.
Reproductive sciences (Thousand Oaks, Calif.) | 2023-11-01 | PMID 37217826
Elsayed Abdalla Moustafa, Al-Kaabi Latifa Saad, Al-Abdulla Noora Mohammed and 6 more
Is OPRM1 genotype a valuable predictor of VAS in patients undergoing laparoscopic radical resection of colorectal cancer with fentanyl?
BMC anesthesiology | 2023-05-22 | PMID 37217861
Zhou Yan, Cao Lei, Yang Yihui and 6 more
Expression pattern analysis of m6A regulators reveals IGF2BP3 as a key modulator in osteoarthritis synovial macrophages.
Journal of translational medicine | 2023-05-22 | PMID 37217897
Lu Yuheng, Zhang Hongbo, Pan Haoyan and 8 more
TRIM32 biallelic defects cause limb-girdle muscular dystrophy R8: identification of two novel mutations and investigation of genotype-phenotype correlation.
Skeletal muscle | 2023-05-22 | PMID 37217920
Guan Yuqing, Liang Xiongda, Li Wei and 6 more
Familial 5.29 Mb deletion in chromosome Xq22.1-q22.3 with a normal phenotype: a rare pedigree and literature review.
BMC medical genomics | 2023-05-22 | PMID 37217926
Xu Hui-Hui, Zhang Yang, He Zhe-Hang and 3 more
Role of PARP inhibitors beyond BRCA mutation and platinum sensitivity in epithelial ovarian cancer: a meta-analysis of hazard ratios from randomized clinical trials.
World journal of surgical oncology | 2023-05-23 | PMID 37217940
Purwar Roli, Ranjan Rakesh, Pal Manjusha and 3 more
In silico methods for predicting functional synonymous variants.
Genome biology | 2023-05-22 | PMID 37217943
Lin Brian C, Katneni Upendra, Jankowska Katarzyna I and 2 more
Involvement of a flavoprotein, acetohydroxyacid synthase, in growth and riboflavin production in riboflavin-overproducing Ashbya gossypii mutant.
Microbial cell factories | 2023-05-22 | PMID 37217979
Kato Tatsuya, Kano Mai, Yokomori Ami and 3 more
Profiling the immune epigenome across global cattle breeds.
Genome biology | 2023-05-22 | PMID 37218021
Powell Jessica, Talenti Andrea, Fisch Andressa and 8 more
[Bacillus Calmette-Guérin infection and chronic granulomatous disease due to new pathogenic variants in the NCF2 gene in the Mayan ethnic group. Report of two cases.]
Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993) | 2023-04-19 | PMID 37218049
Peñafiel-Vicuña Ana Karen, Coyata-Guzmán Rogelio, González Reynoso Anelena and 10 more
[Wiskott-Aldrich syndrome with platelets of normal size and c.295C>T mutation of the WAS gene. Case report].
Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993) | 2023-04-19 | PMID 37218050
Cunha-Carneiro Maria Luiza, Xavier-Andrade Millena, Bacarini-Leite Luiz Fernando and 2 more
Targeting CD73 to Overcomes Resistance to First-Generation EGFR Tyrosine Kinase Inhibitors in Non-Small Cell Lung Cancer.
Cancer research and treatment | 2023-10-01 | PMID 37218137
Kim Miso, Kim Soyeon, Yim Jeemin and 5 more
Final Report on Real-World Effectiveness of Sequential Afatinib and Osimertinib in EGFR-Positive Advanced Non-Small Cell Lung Cancer: Updated Analysis of the RESET Study.
Cancer research and treatment | 2023-10-01 | PMID 37218139
Kim Taeyun, Jang Tae Won, Choi Chang Min and 14 more
Clinical characteristics of gyrate atrophy compared with a gyrate atrophy-like retinal phenotype.
European journal of ophthalmology | 2024-01-01 | PMID 37218157
Pauleikhoff L, Weisschuh N, Lentzsch A and 4 more
Aldose reductase gene polymorphism rs752010122 and retinopathy in type 2 diabetics.
JPMA. The Journal of the Pakistan Medical Association | 2023-05-01 | PMID 37218221
Maqsood Muntaha, Waheed Palvasha, Rashid Amir and 2 more
De-black-boxing health AI: demonstrating reproducible machine learning computable phenotypes using the N3C-RECOVER Long COVID model in the All of Us data repository.
Journal of the American Medical Informatics Association : JAMIA | 2023-06-20 | PMID 37218289
Pfaff Emily R, Girvin Andrew T, Crosskey Miles and 11 more
[A Case of Multiple Brain Metastases after Surgery for Lung Cancer Successfully Treated with Osimertinib].
Gan to kagaku ryoho. Cancer & chemotherapy | 2023-05-01 | PMID 37218327
Takeuchi Ken, Hayakawa Nobutaka, Ouchi Motofumi
Losing the forest for the tree? On the wisdom of subpopulation management.
Zoo biology | 2000-01-01 | PMID 37218348
Powell David M
Medium composition overturns the widely accepted sulfate-dependent repression of desulfurization phenotype in Rhodococcus qingshengii IGTS8.
Biotechnology and bioengineering | 2023-10-01 | PMID 37218382
Martzoukou Olga, Mamma Diomi, Hatzinikolaou Dimitris G
Patterns of TDP-43 Deposition in Brains with LRRK2 G2019S Mutations.
Movement disorders : official journal of the Movement Disorder Society | 2023-08-01 | PMID 37218402
Agin-Liebes Julian, Hickman Richard A, Vonsattel Jean Paul and 10 more
Deleterious Mechanical Deformation Selects Mechanoresilient Cancer Cells with Enhanced Proliferation and Chemoresistance.
Advanced science (Weinheim, Baden-Wurttemberg, Germany) | 2023-08-01 | PMID 37218524
Jiang Kuan, Lim Su Bin, Xiao Jingwei and 8 more
Expanding the phenotype and genotype in Thauvin-Robinet-Faivre syndrome: A new patient with a novel variant and additional clinical findings.
American journal of medical genetics. Part A | 2023-08-01 | PMID 37218527
Duzenli Tarik, Sezer Abdullah, Kayhan Gulsum and 2 more
Investigating the shared genetic architecture of post-traumatic stress disorder and gastrointestinal tract disorders: a genome-wide cross-trait analysis.
Psychological medicine | 2023-12-01 | PMID 37218628
Zhou Siquan, Luo Hang, Tian Ye and 6 more
Dopaminergic signalling and behavioural alterations by Comt-Dtnbp1 genetic interaction and their clinical relevance.
British journal of pharmacology | 2023-10-01 | PMID 37218669
Managò Francesca, Scheggia Diego, Pontillo Maria and 11 more
Dissecting the Effect of ALS Mutation G335D on the Early Aggregation of the TDP-43 Amyloidogenic Core Peptide: Helix-to-β-Sheet Transition and Conformational Shift.
Journal of chemical information and modeling | 2023-06-12 | PMID 37218694
Li Fangying, Chen Yujie, Tang Yiming and 2 more
The causal links between gut microbiota and COVID-19: A Mendelian randomization study.
Journal of medical virology | 2023-05-01 | PMID 37219044
Song Jukun, Wu Yadong, Yin Xinhai and 2 more
Targeting Cell Cycle Facilitates E1A-Independent Adenoviral Replication.
Journal of virology | 2023-06-29 | PMID 37219458
Ehrenfeld Maximilian, Segeth Felicia, Mantwill Klaus and 7 more
Targeted depletion of pks+ bacteria from a fecal microbiota using specific antibodies.
mSystems | 2023-06-29 | PMID 37219498
Blanco-Míguez Aitor, Marcos-Fernández Raquel, Guadamuro-García Lucía and 5 more
Causal relationships between autoimmune diseases and celiac disease: A Mendelian randomization analysis.
Biotechnology & genetic engineering reviews | 2024-12-01 | PMID 37219596
Li Ting, Feng Yan, Wang Chun and 6 more
KRAS mutation in primary ovarian serous borderline tumors correlates with tumor recurrence.
Virchows Archiv : an international journal of pathology | 2023-07-01 | PMID 37219599
McHenry Austin, Rottmann Douglas A, Buza Natalia and 1 more
A Carboxy-terminal Smarcb1 Point Mutation Induces Hydrocephalus Formation and Affects AP-1 and Neuronal Signalling Pathways in Mice.
Cellular and molecular neurobiology | 2023-10-01 | PMID 37219662
Brugmans Aliska K, Walter Carolin, Moreno Natalia and 15 more
Association of endothelial nitric oxide synthase (Glu298Asp) gene polymorphism with radial artery spasm during cardiac catheterization in Egyptians.
Molecular biology reports | 2023-07-01 | PMID 37219667
Abdelaziz Tarek A, Mohamed Randa H, Dwedar Ashraf A and 3 more
Deciphering the level of genetic diversity in some aegilops species using CAAT box-derived polymorphism (CBDP) and start codon target polymorphism (SCoT) markers.
Molecular biology reports | 2023-07-01 | PMID 37219668
Bokaei Ali Sajjad, Sofalian Omid, Sorkhilalehloo Behzad and 2 more
Evaluation of isocitrate dehydrogenase mutation in 2021 world health organization classification grade 3 and 4 glioma adult-type diffuse gliomas with 18F-fluoromisonidazole PET.
Japanese journal of radiology | 2023-11-01 | PMID 37219717
Wang Yang, Fushimi Yasutaka, Arakawa Yoshiki and 13 more
A Registry Study of 240 Patients with X-Linked Agammaglobulinemia Living in the USA.
Journal of clinical immunology | 2023-08-01 | PMID 37219739
Hernandez-Trujillo Vivian, Zhou Chuan, Scalchunes Christopher and 8 more
Fibronectin Contributes to a BRAF Inhibitor-driven Invasive Phenotype in Thyroid Cancer through EGR1, Which Can Be Blocked by Inhibition of ERK1/2.
Molecular cancer research : MCR | 2023-09-01 | PMID 37219859
Hicks Hannah M, Pozdeyev Nikita, Sams Sharon B and 5 more
DMD Gene and Dystrophinopathy Phenotypes Associated With Mutations: A Systematic Review for Clinicians.
Journal of clinical neuromuscular disease | 2023-06-01 | PMID 37219861
Andrews Jennifer G, Galindo Maureen Kelly, Thomas Shiny and 2 more
Genes: DMD
Arabidopsis thaliana B-GATA factors repress starch synthesis and gravitropic growth responses.
The New phytologist | 2023-08-01 | PMID 37219878
Sala Jan, Mosesso Niccolò, Isono Erika and 1 more
Barriers to Genetic Testing in Vascular Malformations.
JAMA network open | 2023-05-01 | PMID 37219903
Borst Alexandra J, Hammill Adrienne M, Crary Shelley E and 3 more
Identification of Distinct Genetic Profiles of Palindromic Rheumatism Using Whole-Exome Sequencing.
Arthritis & rheumatology (Hoboken, N.J.) | 2023-11-01 | PMID 37219934
Zheng Chenxiang, Wang Fan, Sun Yue and 27 more
Disruption of the nuclear localization signal in RBM20 is causative in dilated cardiomyopathy.
JCI insight | 2023-07-10 | PMID 37219949
Zhang Yanghai, Gregorich Zachery R, Wang Yujuan and 9 more
Biologically Interpretable Deep Learning To Predict Response to Immunotherapy In Advanced Melanoma Using Mutations and Copy Number Variations.
Journal of immunotherapy (Hagerstown, Md. : 1997) | 2000-01-01 | PMID 37220017
Zhang Liuchao, Cao Lei, Li Shuang and 7 more
One of these things is not like the other: Mixed predator cues result in lopsided phenotypic responses in a Neotropical tadpole.
PloS one | 2023-01-01 | PMID 37220106
Rosenthal Dean M, Deng Luana, Rose Tarif and 1 more
Rapid genotyping of porcine reproductive and respiratory syndrome virus (PRRSV) using MinION nanopore sequencing.
PloS one | 2023-01-01 | PMID 37220122
Caserta Leonardo Cardia, Zhang Jianqiang, Piñeyro Pablo and 1 more
Mitofusin 1 overexpression rescues the abnormal mitochondrial dynamics caused by the Mitofusin 2 K357T mutation in vitro.
Journal of the peripheral nervous system : JPNS | 2023-09-01 | PMID 37220142
Stavropoulos Filippos, Georgiou Elena, Schiza Natasa and 4 more
Radiofrequency Ablation of Unifocal Papillary Thyroid Microcarcinoma With BRAF V600E Mutation.
The Journal of clinical endocrinology and metabolism | 2023-10-18 | PMID 37220176
Lin Yan, Wu Zhao-Rong, Shi Yao-Ping and 5 more
Discovery of a Selective and Orally Bioavailable FGFR2 Degrader for Treating Gastric Cancer.
Journal of medicinal chemistry | 2023-06-08 | PMID 37220310
Ma Lin, Li Yingying, Luo Ruixiang and 10 more
Genetic Diversity and Characteristics of Drug Resistance Among Treatment-Naive People Living with HIV in Xi'an, China.
Drug design, development and therapy | 2023-01-01 | PMID 37220545
Xia Huan, Jin Juan, Ba Huanhuan and 6 more
Identification of Evolutionary Trajectories Shared across Human Betacoronaviruses.
Genome biology and evolution | 2023-06-01 | PMID 37220645
Escalera-Zamudio Marina, Kosakovsky Pond Sergei L, Martínez de la Viña Natalia and 8 more
An Ancestral Balanced Inversion Polymorphism Confers Global Adaptation.
Molecular biology and evolution | 2023-06-01 | PMID 37220650
Kapun Martin, Mitchell Esra Durmaz, Kawecki Tadeusz J and 2 more
The P-body component DECAPPING5 and the floral repressor SISTER OF FCA regulate FLOWERING LOCUS C transcription in Arabidopsis.
The Plant cell | 2023-09-01 | PMID 37220754
Wang Wanyi, Wang Chuanhong, Wang Yunhe and 10 more
The association between Adenosine A2A receptor gene polymorphisms and attention deficit hyperactivity disorder in Korean children.
Gene | 2023-08-05 | PMID 37220831
Kim Ga Eun, Kim Hyung Jun, Jin Han Jun
First report of Echinococcus ortleppi and genotype G6 of E. canadensis cluster from southern Punjab, Pakistan and a global overview on genetic structure and host adaptation of E. ortleppi.
Acta tropica | 2023-08-01 | PMID 37220843
Muqaddas Hira, Mehmood Naunain, Saarma Urmas and 5 more
Domains required for the interaction of the central negative element FRQ with its transcriptional activator WCC within the core circadian clock of Neurospora.
The Journal of biological chemistry | 2023-07-01 | PMID 37220856
Wang Bin, Dunlap Jay C
ALS-linked CCNF variant disrupts motor neuron ubiquitin homeostasis.
Human molecular genetics | 2023-07-04 | PMID 37220877
Farrawell Natalie E, Bax Monique, McAlary Luke and 9 more
Multi-modal deep learning improves grain yield prediction in wheat breeding by fusing genomics and phenomics.
Bioinformatics (Oxford, England) | 2023-06-01 | PMID 37220903
Togninalli Matteo, Wang Xu, Kucera Tim and 10 more
A CRISPR-Cas9 mutation in sox9b long intergenic noncoding RNA (slincR) affects zebrafish development, behavior, and regeneration.
Toxicological sciences : an official journal of the Society of Toxicology | 2023-07-28 | PMID 37220911
Dasgupta Subham, LaDu Jane K, Garcia Gloria R and 5 more
The use of a genomic relationship matrix for breed assignment of cattle breeds: comparison and combination with a machine learning method.
Journal of animal science | 2023-01-03 | PMID 37220912
Wilmot Hélène, Niehoff Tobias, Soyeurt Hélène and 2 more
[Epidemiological distribution of genotypes and sub-genotypes of hepatitis B virus in 15 ethnic groups in China].
Zhonghua liu xing bing xue za zhi = Zhonghua liuxingbingxue zazhi | 2023-05-10 | PMID 37221064
Guo X Q, Zhang S, Zheng H and 7 more
Association of C-reactive protein gene polymorphisms with the risk of ischemic stroke: A systematic review and meta-analysis.
Brain and behavior | 2023-06-01 | PMID 37221147
Chen Wei, Zhu Xiaomin, Hu Yueqiang and 6 more
Evaluating the effect of gamma rays on Zamiifolia (Zamioculcas zamiifolia) plant in vitro and genetic diversity of the resulting genotypes using the ISSR marker.
Scientific reports | 2023-05-23 | PMID 37221200
Beyramizadeh Ebrahim, Arminian Ali, Fazeli Arash
SLCO1B1*5 is protective against non-senile cataracts in cohort prescribed statins: analysis in a British-South Asian cohort.
The pharmacogenomics journal | 2023-09-01 | PMID 37221222
Magavern Emma F, van Heel David A, Smedley Damian and 1 more
Reduced within-population quantitative genetic variation is associated with climate harshness in maritime pine.
Heredity | 2023-07-01 | PMID 37221230
Archambeau Juliette, Benito Garzón Marta, de Miguel Marina and 3 more
Echo2Pheno: a deep-learning application to uncover echocardiographic phenotypes in conscious mice.
Mammalian genome : official journal of the International Mammalian Genome Society | 2023-06-01 | PMID 37221250
Bukas Christina, Galter Isabella, da Silva-Buttkus Patricia and 7 more
Patient Characteristics, Testing and Treatment Patterns, and Outcomes in EGFR-Mutated Advanced Non-Small Cell Lung Cancer: A Multinational, Real-World Study.
Advances in therapy | 2023-07-01 | PMID 37221352
Molife Cliff, Winfree Katherine B, Bailey Hollie and 5 more
Emergence of community-associated methicillin-resistant Staphylococcus aureus ΨUSA300 among Japanese people with HIV, resulted from stepwise mutations in 2010s.
Scientific reports | 2023-05-23 | PMID 37221358
Shinohara Koh, Uehara Yuki, Teruya Katsuji and 7 more
On modeling the correlates of conspiracy thinking.
Scientific reports | 2023-05-23 | PMID 37221359
Enders Adam M, Diekman Amanda, Klofstad Casey and 4 more
Clonal Hematopoiesis in Myeloproliferative Neoplasms Confers a Predisposition to both Thrombosis and Cancer.
Current hematologic malignancy reports | 2023-08-01 | PMID 37221411
Barbui Tiziano, Gavazzi Antonello, Sciatti Edoardo and 4 more
A patient with PLACK syndrome with a novel splicing mutation in CAST: the evidence for a loss-of-function mechanism through mis-splicing.
Clinical and experimental dermatology | 2023-09-19 | PMID 37221445
Mamivand Ali, Zekri Ali, Maghrouni Abolfazl and 6 more
Association between circulating fatty acid metabolites and asthma risk: a two-sample bidirectional Mendelian randomization study.
BMC medical genomics | 2023-05-23 | PMID 37221513
Huang Tingting, Long Yichen, Ou Yang and 3 more
A novel 1p13.2 deletion associates with neurodevelopmental disorders in a three-generation pedigree.
BMC medical genomics | 2023-05-23 | PMID 37221554
Yu Lihua, Ding Hongke, Liu Min and 5 more
Association of ZC3HAV1 single nucleotide polymorphisms with the susceptibility of Vogt-Koyanagi-Harada Disease.
BMC medical genomics | 2023-05-23 | PMID 37221558
Wu Qiuying, Zhong Zhenyu, Zhou Chunya and 3 more
An association of CSF apolipoprotein E glycosylation and amyloid-beta 42 in individuals who carry the APOE4 allele.
Alzheimer's research & therapy | 2023-05-23 | PMID 37221560
Meuret Cristiana J, Hu Yueming, Smadi Sabrina and 7 more
Inferring the ecological and evolutionary determinants of community genetic diversity.
Molecular ecology | 2023-12-01 | PMID 37221561
Overcast Isaac, Noguerales Víctor, Meramveliotakis Emmanouil and 7 more
Integrated analysis of robust sex-biased gene signatures in human brain.
Biology of sex differences | 2023-05-24 | PMID 37221602
Wapeesittipan Pattama, Joshi Anagha
Identification of BRAF, CCND1, and MYC mutations in a patient with multiple primary malignant tumors: a case report and review of the literature.
World journal of surgical oncology | 2023-05-24 | PMID 37221610
Liu Zheyu, Jin Cheng, Zhang Yi and 3 more
The Mutation and Low Expression of ARID1A are Predictive of a Poor Prognosis and High Immune Infiltration in Triple-negative Breast Cancer.
Current cancer drug targets | 2024-01-01 | PMID 37221684
Wang Yuejing, Chen Zhuo, Wu Jing and 3 more
Genes: ARID1A, CD4, TP53
Using population pharmacokinetic analyses of drugs metabolized by CYP2D6 to study the genotype-phenotype translation.
Basic & clinical pharmacology & toxicology | 2023-08-01 | PMID 37221697
Frederiksen Trine
Abnormal activation of NF-κB and MAPK signaling pathways affect osimertinib resistance and influence the recruitment of myeloid-derived suppressor cells to shape the immunosuppressive tumor immune microenvironment.
Thoracic cancer | 2023-07-01 | PMID 37221702
Wang Chao, Fei Kailun, Liu Lihui and 9 more
Genes: EGFR
Evolution of Mycobacterium abscessus in the human lung: Cumulative mutations and genomic rearrangement of porin genes in patient isolates.
Virulence | 2023-12-01 | PMID 37221835
Shallom Shamira J, Tettelin Hervé, Chandrasekaran Prabha and 13 more
The turnover of plant-frugivore interactions along plant range expansion: consequences for natural colonization processes.
Proceedings. Biological sciences | 2023-05-31 | PMID 37221844
Isla Jorge, Jácome-Flores Miguel, Arroyo Juan M and 1 more
Imprinting in an interspecific brood parasitic bird.
Proceedings. Biological sciences | 2023-05-31 | PMID 37221846
Crudele Ignacio, Reboreda Juan C, Fiorini Vanina D
Female reproductive fluids 'rescue' sperm from phenotypic ageing in an external fertilizer.
Proceedings. Biological sciences | 2023-05-31 | PMID 37221848
Hadlow Jessica H, Evans Jonathan P, Lymbery Rowan A
Parental care results in a greater mutation load, for which it is also a phenotypic antidote.
Proceedings. Biological sciences | 2023-05-31 | PMID 37221850
Pascoal Sonia, Shimadzu Hideyasu, Mashoodh Rahia and 1 more
Profiling Immunological Phenotypes in Individuals During the First Year After Traumatic Spinal Cord Injury: A Longitudinal Analysis.
Journal of neurotrauma | 2023-12-01 | PMID 37221869
Morrison Debra, Pinpin Camille, Lee Annette and 14 more
Inherent Susceptibility to Acquired Epilepsy in Selectively Bred Rats Influences the Acute Response to Traumatic Brain Injury.
Journal of neurotrauma | 2023-10-01 | PMID 37221897
Leung Wai Lam, Dill Larissa K, Perucca Piero and 3 more
Severe cardiac conduction disease associated with titin gene mutation.
Pacing and clinical electrophysiology : PACE | 2024-02-01 | PMID 37221934
Uniat Jonathan, Hill Allison, Shwayder Mark and 1 more
ConsCal: A tool to aid medical genetics professionals in consanguineous populations.
American journal of medical genetics. Part A | 2023-08-01 | PMID 37221981
Alkuraya Imen F
Maternally inherited deletion encompassing the RTL1as and MEG8 genes of the human 14q32 imprinted region in a patient with a mild Kagami-Ogata syndrome phenotype.
American journal of medical genetics. Part A | 2023-08-01 | PMID 37222159
Sirera Sirera Paula, García-Payá Elena, Olivas García Julia and 2 more
Differential functions of the KRAS splice variants.
Biochemical Society transactions | 2023-06-28 | PMID 37222266
Kochen Rossi Juan, Nuevo-Tapioles Cristina, Philips Mark R
Relationship between body composition and PBRM1 mutations in clear cell renal cell carcinoma: a propensity score matching analysis.
Revista da Associacao Medica Brasileira (1992) | 2023-01-01 | PMID 37222312
Demirel Emin, Dilek Okan
Identification of novel variants in retinitis pigmentosa genes by whole-exome sequencing.
Revista da Associacao Medica Brasileira (1992) | 2023-01-01 | PMID 37222315
Kocaaga Ayca, Aköz İrem Öztürk, Demir Nihal Ulus and 1 more
Effects of hepatitis C virus genotypes and viral load on glucose and lipid metabolism after sustained virological response with direct-acting antivirals.
Revista da Associacao Medica Brasileira (1992) | 2023-01-01 | PMID 37222317
Sparvoli Jucéli Márcia Hendges, Sparvoli Antonio Cardoso, Pereira Afonso Alexandre and 3 more