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 8904 of 10600

Seroprevalence and mutations in the major hydrophilic region of hepatitis B virus among pregnant women in Huzhou, China.
Transactions of the Royal Society of Tropical Medicine and Hygiene | 2022-09-10 | PMID 35543271
Li Haiyan, Qian Fuchu, Zou Weihua and 3 more
Lung cancer as a predominant feature in a patient with Peutz-Jeghers syndrome: Case report.
Thoracic cancer | 2022-06-01 | PMID 35543335
Fostira Florentia, Fountzilas Elena, Papadopoulou Kyriaki and 6 more
An ecological modeling on the adjusted effects of socioeconomic determinants and HLA-DRB1 alleles in fatality of COVID-19 during the early phase of epidemics in a group of countries.
Przeglad epidemiologiczny | 2021-01-01 | PMID 35543420
Yasin Ahmadi Seyyed Amir, Shahsavar Farhad, Tehrani-Banihashemi Arash and 7 more
Efficient testing and effect size estimation for set-based genetic association inference via semiparametric multilevel mixture modeling.
Biometrical journal. Biometrische Zeitschrift | 2022-08-01 | PMID 35543501
Sugasawa Shonosuke, Noma Hisashi
Evaluation of a Gene-Environment Interaction of PON1 and Low-Level Nerve Agent Exposure with Gulf War Illness: A Prevalence Case-Control Study Drawn from the U.S. Military Health Survey's National Population Sample.
Environmental health perspectives | 2022-05-01 | PMID 35543525
Haley Robert W, Kramer Gerald, Xiao Junhui and 2 more
Emergence of SARS-CoV-2 Spike Mutations during Prolonged Infection in Immunocompromised Hosts.
Microbiology spectrum | 2022-06-29 | PMID 35543562
Ko Karrie K K, Yingtaweesittikul Hatairat, Tan Thuan Tong and 11 more
Predictive and prognostic value of gene mutations in myelodysplastic syndrome treated with hypomethylating agents: a meta-analysis.
Leukemia & lymphoma | 2022-10-01 | PMID 35543621
Hu Chaolu, Wang Xiaoqin
Loss of function mutation in DNAH7 induces male infertility associated with abnormalities of the sperm flagella and mitochondria in human.
Clinical genetics | 2022-08-01 | PMID 35543642
Gao Yang, Liu Liting, Shen Qunshan and 15 more
Basal metabolic rate and risk of multiple sclerosis: a Mendelian randomization study.
Metabolic brain disease | 2022-08-01 | PMID 35543713
Liu Chunxin, Lu Yaxin, Chen Jingjing and 3 more
Patient with multiple morphological abnormalities of sperm flagella caused by a novel ARMC2 mutation has a favorable pregnancy outcome from intracytoplasmic sperm injection.
Journal of assisted reproduction and genetics | 2022-07-01 | PMID 35543806
Wang Jiaxiong, Liu Xiaoran, Zhang Ce and 5 more
Evolution of Bordetella pertussis in the acellular vaccine era in Norway, 1996 to 2019.
European journal of clinical microbiology & infectious diseases : official publication of the European Society of Clinical Microbiology | 2022-06-01 | PMID 35543837
Brandal Lin T, Vestrheim Didrik F, Bruvik Torbjørn and 5 more
Relevance of the MHC region for breast cancer susceptibility in Asians.
Breast cancer (Tokyo, Japan) | 2022-09-01 | PMID 35543923
Ho Peh Joo, Khng Alexis Jiaying, Tan Benita Kiat-Tee and 35 more
Matching-Adjusted Indirect Comparison (MAIC) of Tepotinib with Other MET Inhibitors for the Treatment of Advanced NSCLC with MET Exon 14 Skipping Mutations.
Advances in therapy | 2022-07-01 | PMID 35543963
Paik Paul K, Pfeiffer Boris M, Vioix Helene and 2 more
Safety and Effectiveness Using 8 Weeks of Glecaprevir/Pibrentasvir in HCV-Infected Treatment-Naïve Patients with Compensated Cirrhosis: The CREST Study.
Advances in therapy | 2022-07-01 | PMID 35543964
Cornberg Markus, Ahumada Adriana, Aghemo Alessio and 19 more
A Perspective on the Molecular Identification, Classification, and Epidemiology of Enterocytozoon bieneusi of Animals.
Experientia supplementum (2012) | 2022-01-01 | PMID 35544010
Koehler Anson V, Zhang Yan, Gasser Robin B
Public availability of HIV-1 drug resistance sequence and treatment data: a systematic review.
The Lancet. Microbe | 2022-05-01 | PMID 35544100
Rhee Soo-Yon, Kassaye Seble G, Jordan Michael R and 3 more
Novel hypercapsulation RNA thermosensor variants in Neisseria meningitidis and their association with invasive meningococcal disease: a genetic and phenotypic investigation and molecular epidemiological study.
The Lancet. Microbe | 2020-12-01 | PMID 35544185
Karlsson Jens, Eichner Hannes, Andersson Cecilia and 2 more
Epigenome editing reveals core DNA methylation for imprinting control in the Dlk1-Dio3 imprinted domain.
Nucleic acids research | 2022-05-20 | PMID 35544282
Kojima Shin, Shiochi Naoya, Sato Kazuki and 8 more
AGBE: a dual deaminase-mediated base editor by fusing CGBE with ABE for creating a saturated mutant population with multiple editing patterns.
Nucleic acids research | 2022-05-20 | PMID 35544322
Liang Yanhui, Xie Jingke, Zhang Quanjun and 17 more
Covariate adjustment of spirometric and smoking phenotypes: The potential of neural network models.
PloS one | 2022-01-01 | PMID 35544468
Voorhies Kirsten, Bie Ruofan, Hokanson John E and 9 more
Long-term obesogenic diet leads to metabolic phenotypes which are not exacerbated by catch-up growth in zebrafish.
PloS one | 2022-01-01 | PMID 35544474
Leibold Sandra, Bagivalu Lakshminarasimha Amrutha, Gremse Felix and 2 more
MicroRNA-resistant alleles of HOMEOBOX DOMAIN-2 modify inflorescence branching and increase grain protein content of wheat.
Science advances | 2022-05-13 | PMID 35544571
Dixon Laura E, Pasquariello Marianna, Badgami Roshani and 12 more
Clinical and molecular characteristics of acute myeloid leukemia with MPL mutation.
Hematology (Amsterdam, Netherlands) | 2022-12-01 | PMID 35544613
Chen Yu, Xie Jundan, Shen Zhen and 3 more
Hepatitis C virus genotypes and viremia in a tertiary hospital in Istanbul, Turkey.
Journal of infection in developing countries | 2022-04-30 | PMID 35544629
Alacam Sema, Bakir Ayfer, Karatas Aysel
CancerVar: An artificial intelligence-empowered platform for clinical interpretation of somatic mutations in cancer.
Science advances | 2022-05-06 | PMID 35544644
Li Quan, Ren Zilin, Cao Kajia and 3 more
Effects of Metastatic Sites on Circulating Tumor DNA in Patients With Metastatic Colorectal Cancer.
JCO precision oncology | 2022-04-01 | PMID 35544728
Bando Hideaki, Nakamura Yoshiaki, Taniguchi Hiroya and 23 more
Biological adaptation in light of the Lewontin-Williams (a)symmetry.
Evolution; international journal of organic evolution | 2022-07-01 | PMID 35544781
Fromhage Lutz, Houston Alasdair I
Melon genotypes with resistance to Liriomyza sativae Blanchard (Diptera: Agromyzidae).
Anais da Academia Brasileira de Ciencias | 2022-01-01 | PMID 35544843
Oliveira Josielma M DE, Araújo Jackson L, Melo José Wagner S and 1 more
Molecular data reveal multiple lineages of Scinax nebulosus (Spix, 1824) (Anura: Hylidae) with Plio-Pleistocene diversification in different Brazilian regions.
Anais da Academia Brasileira de Ciencias | 2022-01-01 | PMID 35544846
Freitas Tatiana M B, Abreu João M S, Sampaio Iracilda and 2 more
Trypanosoma cruzi genetic diversity: impact on transmission cycles and Chagas disease.
Memorias do Instituto Oswaldo Cruz | 2022-01-01 | PMID 35544857
Zingales Bianca, Bartholomeu Daniella C
BRAF and NRAS prognostic values in conjunctival melanoma: analysis and literature review.
Arquivos brasileiros de oftalmologia | 2023-01-01 | PMID 35544941
Valentín-Bravo Francisco Javier, Pérez-Rodríguez Álvaro, García-Álvarez Ciro and 2 more
The study of candidate genes in the improvement of egg production in ducks - a review.
Poultry science | 2022-07-01 | PMID 35544958
Bello Semiu Folaniyi, Adeola Adeniyi Charles, Nie Qinghua
Association between CACNA1C gene rs100737 polymorphism and glutamatergic neurometabolites in bipolar disorder.
European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology | 2022-06-01 | PMID 35544990
Scotti-Muzzi Estêvão, Chile Thais, Vallada Homero and 2 more
Variable Mutation Expression in Human Cancers: A "Hide-and-Seek" Mechanism Linked to Differential MHC-I Presentation Dynamics.
Molecular cancer therapeutics | 2022-07-05 | PMID 35545005
Boichard Amélie, Kurzrock Razelle
Human genetic factors associated with pneumonia risk, a cue for COVID-19 susceptibility.
Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases | 2022-08-01 | PMID 35545162
Guin Debleena, Yadav Saroj, Singh Priyanka and 12 more
Genome-Wide Mapping of Plasma IgG N-Glycan Quantitative Trait Loci Identifies a Potentially Causal Association between IgG N-Glycans and Rheumatoid Arthritis.
Journal of immunology (Baltimore, Md. : 1950) | 2022-06-01 | PMID 35545292
Liu Di, Dong Jing, Zhang Jie and 9 more
Whole-exome sequencing in diagnosing 2 cases of Gitelman syndrome.
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences | 2022-03-28 | PMID 35545335
Xie Rongrong, Jin Ping, Yang Youbo and 2 more
Cell HE staining smears and paired cell paraffin sections in detection of epithelial growth factor receptor gene of pleural fluid specimens.
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences | 2022-01-28 | PMID 35545361
Hou Fang, Qi Changhai, Lu Yiyan and 2 more
Association of periconceptional folate supplements and FOLR1 and FOLR2 gene polymorphisms with risk of congenital heart disease in offspring: A hospital-based case-control study.
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences | 2022-01-28 | PMID 35545363
Song Xinli, Huang Peng, Wang Tingting and 3 more
Clinical phenotypes of primary ciliary dyskinesia.
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences | 2022-01-28 | PMID 35545371
Lei Cheng, Wang Rongchun, Yang Danhui and 2 more
Relationship of PI3K-Akt/mTOR/AMPK signaling pathway genetic mutation with efficacy and prognosis in nasopharyngeal carcinoma.
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences | 2022-02-28 | PMID 35545406
Chen Yanzhu, He Qian, Ma Hongzhi and 3 more
NEXMIF mutations in intellectual disability and epilepsy: A report of 2 cases and literature review.
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences | 2022-02-28 | PMID 35545418
Chen Shimeng, Deng Xiaolu, Xiong Juan and 6 more
A novel analytical framework to quantify co-gradient and countergradient variation.
Ecology letters | 2022-06-01 | PMID 35545439
Albecker Molly A, Trussell Geoffrey C, Lotterhos Katie E
Genetic purity of a rear-edge population of Carex podogyna Franch. et Sav. (Cyperaceae) maintained under interspecific hybridization.
Genes & genetic systems | 2022-07-16 | PMID 35545526
Nagasawa Koki, Fukumoto Shigeru, Setoguchi Hiroaki and 4 more
[A real-world study of the efficacy and safety of sofosbuvir and velpatasvir in the treatment of HCV-infected patients in a county in northern China].
Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology | 2022-04-20 | PMID 35545564
Qiu L X, Yu H B, Lin W and 6 more
A rare variant analysis framework using public genotype summary counts to prioritize disease-predisposition genes.
Nature communications | 2022-05-11 | PMID 35545612
Chen Wenan, Wang Shuoguo, Tithi Saima Sultana and 3 more
Characterisation of drug-resistant Mycobacterium tuberculosis mutations and transmission in Pakistan.
Scientific reports | 2022-05-11 | PMID 35545649
Napier Gary, Khan Anwar Sheed, Jabbar Abdul and 13 more
Genetic and chemotherapeutic influences on germline hypermutation.
Nature | 2022-05-01 | PMID 35545669
Kaplanis Joanna, Ide Benjamin, Sanghvi Rashesh and 13 more
Single-cell eQTL models reveal dynamic T cell state dependence of disease loci.
Nature | 2022-06-01 | PMID 35545678
Nathan Aparna, Asgari Samira, Ishigaki Kazuyoshi and 11 more
A natural mutator allele shapes mutation spectrum variation in mice.
Nature | 2022-05-01 | PMID 35545679
Sasani Thomas A, Ashbrook David G, Beichman Annabel C and 5 more
Fundamental immune-oncogenicity trade-offs define driver mutation fitness.
Nature | 2022-06-01 | PMID 35545680
Hoyos David, Zappasodi Roberta, Schulze Isabell and 27 more
A multi-step genomic approach prioritized TBKBP1 gene as relevant for multiple sclerosis susceptibility.
Journal of neurology | 2022-08-01 | PMID 35545683
Sorosina Melissa, Barizzone Nadia, Clarelli Ferdinando and 25 more
First Epidemiological Report on the Prevalence and Associated Risk Factors of Cryptosporidium spp. in Farmed Marine and Wild Freshwater Fish in Central and Eastern of Algeria.
Acta parasitologica | 2022-09-01 | PMID 35545736
Reghaissia Nassiba, Maxamhud Sadiya, Laatamna AbdElkarim and 7 more
Prioritization of risk genes in multiple sclerosis by a refined Bayesian framework followed by tissue-specificity and cell type feature assessment.
BMC genomics | 2022-05-11 | PMID 35545758
Liu Andi, Manuel Astrid M, Dai Yulin and 1 more
Genome-wide association study of three litter traits in Yorkshire pigs.
Animal genetics | 2022-08-01 | PMID 35545852
Shi Lijun, Li Huihui, Gao Xuefeng and 1 more
Human papillomavirus genotype distribution of genital keratotic lesions.
The Australasian journal of dermatology | 2022-08-01 | PMID 35545860
Seong Seol Hwa, Jeong Sun Mun, Jung Jang Hwan and 7 more
Genome-wide association study revealed TaHXK3-2A as a candidate gene controlling stomatal index in wheat seedlings.
Plant, cell & environment | 2022-08-01 | PMID 35545896
Li Shumin, Yu Shizhou, Zhang Yifang and 10 more
Phylogeography of Colpomenia sinuosa (Ectocarpales, Phaeophyceae) along the Brazilian coast.
Journal of phycology | 2022-08-01 | PMID 35545902
Martins Nuno Tavares, Cassano Valéria, Gurgel Carlos Frederico Deluqui
Genetic diversity in reproductive traits of Braunvieh cattle determined with SNP markers.
Veterinary medicine and science | 2022-07-01 | PMID 35545927
Trujano-Chavez Mitzilin Zuleica, Ruíz-Flores Agustín, López-Ordaz Rufino and 1 more
SARS-CoV-2 Omicron (B.1.1.529) Variant: No Time to Wait!
Acta bio-medica : Atenei Parmensis | 2022-05-11 | PMID 35546004
Rahmani Shayan, Rezaei Nima
Dogs as carriers of virulent and resistant genotypes of Clostridioides difficile.
Zoonoses and public health | 2022-09-01 | PMID 35546073
Finsterwalder S K, Loncaric I, Cabal A and 13 more
Islatravir Has a High Barrier to Resistance and Exhibits a Differentiated Resistance Profile from Approved Nucleoside Reverse Transcriptase Inhibitors (NRTIs).
Antimicrobial agents and chemotherapy | 2022-06-21 | PMID 35546110
Diamond Tracy L, Ngo Winnie, Xu Min and 5 more
Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseases.
Scientific reports | 2022-05-11 | PMID 35546177
Quaio Caio Robledo D 'Angioli Costa, Ceroni Jose Ricardo Magliocco, Cervato Murilo Castro and 9 more
Brain region-specific effects of nearly fixed sapiens-derived alleles.
BMC genomic data | 2022-05-11 | PMID 35546225
Andirkó Alejandro, Boeckx Cedric
Immunogenomic intertumor heterogeneity across primary and metastatic sites in a patient with lung adenocarcinoma.
Journal of experimental & clinical cancer research : CR | 2022-05-11 | PMID 35546239
Chen Runzhe, Li Jun, Fujimoto Junya and 20 more
The genomic full-length sequence of the HLA-A*02:344 allele, identified by full-length group-specific sequencing.
HLA | 2022-09-01 | PMID 35546245
Chi Xiaoyun, Liu Li, Jiao Shuxian and 1 more
The novel HLA-DQB1 allele, HLA-DQB1*04:72, detected in a potential hematopoietic stem cell donor.
HLA | 2022-09-01 | PMID 35546246
Ananeva Anastasiia, Nizamov Shamil, Gaifullina Raushania and 1 more
Epididymis cell atlas in a patient with a sex development disorder and a novel NR5A1 gene mutation.
Asian journal of andrology | 2000-01-01 | PMID 35546286
Shi Jian-Wu, Zhou Yi-Wen, Chen Yu-Fei and 10 more
A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a Chinese family affected by polydactyly.
Molecular genetics & genomic medicine | 2022-07-01 | PMID 35546307
Wang Yusi, Hao Xuguang, Jia Xueyuan and 11 more
Energy balance-related factors and risk of colorectal cancer based on KRAS, PIK3CA, and BRAF mutations and MMR status.
Journal of cancer research and clinical oncology | 2022-10-01 | PMID 35546360
Jenniskens Josien C A, Offermans Kelly, Simons Colinda C J M and 8 more
An exploration in pitfalls in interpreting SDHB immunohistochemistry.
Histopathology | 2022-08-01 | PMID 35546442
Ding Chien-Kuang Cornelia, Chan Salina, Mak Julie and 5 more
Evaluation of genetic polymorphism of CYP3A5 in normal healthy participants from western India - A cross-sectional study.
Indian journal of pharmacology | 2000-01-01 | PMID 35546460
Maurya Miteshkumar Rajaram, Gautam Sunanda, Raj Jeffrey Pradeep and 5 more
Genomic sequence of the HLA-B*15:01:02 and HLA-C*08:72:01 alleles identified in Gujarati individuals.
HLA | 2022-09-01 | PMID 35546473
Chaudhary Akshay, Thakker Nirali C, Buch Hiteshree and 2 more
Staphylococcus aureus Does Not Synthesize Arginine from Proline under Physiological Conditions.
Journal of bacteriology | 2022-06-21 | PMID 35546540
Jeong Bohyun, Shah Majid Ali, Roh Eunjung and 3 more
Changing Predominance of Norovirus Recombinant Strains GII.2[P16] to GII.4[P16] and GII.4[P31] in Thailand, 2017 to 2018.
Microbiology spectrum | 2022-06-29 | PMID 35546545
Khamrin Pattara, Kumthip Kattareeya, Yodmeeklin Arpaporn and 7 more
Genetic analyses identify pleiotropy and causality for blood proteins and highlight Wnt/β-catenin signalling in migraine.
Nature communications | 2022-05-11 | PMID 35546551
Tanha Hamzeh M, Nyholt Dale R
Identifying SARS-CoV-2 Variants of Concern through Saliva-Based RT-qPCR by Targeting Recurrent Mutation Sites.
Microbiology spectrum | 2022-06-29 | PMID 35546574
Ham Rachel E, Smothers Austin R, Che Rui and 3 more
Genome-wide tandem repeat expansions contribute to schizophrenia risk.
Molecular psychiatry | 2022-09-01 | PMID 35546631
Mojarad Bahareh A, Engchuan Worrawat, Trost Brett and 16 more
Expression, Purification, Characterization and Cellular Uptake of MeCP2 Variants.
The protein journal | 2022-04-01 | PMID 35546650
Beribisky Alexander V, Steinkellner Hannes, Geislberger Sofia and 4 more
Giardia duodenalis in patients with diarrhea and various animals in northeastern China: prevalence and multilocus genetic characterization.
Parasites & vectors | 2022-05-11 | PMID 35546681
Wu Yanchen, Yao Lan, Chen Hongshuang and 5 more
Identification of the novel HLA-C*08:243 allele in a Spanish bone marrow donor.
HLA | 2022-09-01 | PMID 35546684
Ocejo-Vinyals J Gonzalo, Cianca Eva, Arroyo José L and 2 more
Two Novel Mutations in Ectodysplasin-A Identified in Syndromic Tooth Agenesis.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSP | 2022-05-01 | PMID 35546689
Xie Weihong, Zeng Binghui, Li Pei and 3 more
<em>Fok1 </em>VDR Gene Polymorphisms as the Risk factor for Diabetes Mellitus.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSP | 2022-05-01 | PMID 35546691
Memon Muhammad Asif, Baig Saeeda, Siddiqui Pirzada Qasim Raza
Link of BIN1, CLU, and IDE Gene Polymorphisms with the Susceptibility of Alzheimer's Disease: Evidence from a Meta-analysis.
Current Alzheimer research | 2022-01-01 | PMID 35546756
Abdul Aziz Md, Md Ashraf Ghulam, Safiqul Islam Mohammad
Mesenchymal Stem Cell-derived Exosomes Affect Macrophage Phenotype: A Cell-free Strategy for the Treatment of Skeletal Muscle Disorders.
Current molecular medicine | 2023-01-01 | PMID 35546766
Su Gang, Lei Xiaoting, Wang Zhenyu and 3 more
Enhancement of the Reliability of Animal Genotyping Regarding the Betterment of Wool Productivity in South-Kazakh Merino Sheep in Kazakhstan.
Archives of Razi Institute | 2021-12-01 | PMID 35546992
Islamov E I, Kulmanova G A, Kulataev B T and 2 more
Congenital myopathies in adults: A diagnosis not to overlook.
Acta neurologica Scandinavica | 2022-08-01 | PMID 35548885
Pinto Maria João, Passos Bárbara Alves, Grangeia Ana and 2 more
Genotype-by-environment interactions modulate the rate of microevolution in reproductive timing in humans.
Evolution; international journal of organic evolution | 2022-07-01 | PMID 35548908
Mawass Walid, Mayer Francine M, Milot Emmanuel
RAPID LOW-COST DETECTION OF TYPE 2CALR MUTATION BY ALLELE-SPECIFIC RT-PCR FOR DIAGNOSIS OF MYELOPROLIFERATIVE NEOPLASMS.
Experimental oncology | 2022-05-01 | PMID 35548965
Dybkov M V, Zavelevich M P, Gluzman D F and 1 more
NOD2c.3019-3020insC AND c.2104C>T GENE VARIANTS AMONG PATIENTS FROM WESTERN UKRAINE WITH CROHN'S DISEASE AND COLORECTAL CANCER.
Experimental oncology | 2022-05-01 | PMID 35548966
Lozynska L, Pinyazhko R, Lozynska M and 5 more
Genetic Basis of Left Ventricular Noncompaction.
Circulation. Genomic and precision medicine | 2022-06-01 | PMID 35549379
Rojanasopondist Pakdee, Nesheiwat Leigh, Piombo Sebastian and 3 more
Single-nucleus cross-tissue molecular reference maps toward understanding disease gene function.
Science (New York, N.Y.) | 2022-05-13 | PMID 35549429
Eraslan Gökcen, Drokhlyansky Eugene, Anand Shankara and 23 more
Unusual presentation of rare Phe33Leu mutation in hereditary TTR cardiac amyloidosis.
Future cardiology | 2022-06-01 | PMID 35549533
Gupta Rahul, Lin Muling, Bokhari Sabahat
Recurrent Infections and Immunodeficiency Caused by Severe Pancytopenia Associated with a Novel Life-Threatening Mutation in Hypoxia-Upregulated Protein 1.
Immunological investigations | 2022-08-01 | PMID 35549617
Jafari Khamirani Hossein, Dianatpour Mehdi, Zoghi Sina and 6 more
Molecular genetic and clinical characterization of acute myeloid leukemia with trisomy 8 as the sole chromosome abnormality.
Hematology (Amsterdam, Netherlands) | 2022-12-01 | PMID 35549661
Liu Jie, Han WenMin, Cai Xiaohui and 7 more
A very rare case report of glycogen storage disease type IXc with novel PHKG2 variants.
BMC pediatrics | 2022-05-12 | PMID 35549678
Shao Yongxian, Li Taolin, Jiang Minyan and 5 more
Dent-2 disease with a Bartter-like phenotype caused by the Asp631Glu mutation in the OCRL gene.
BMC nephrology | 2022-05-12 | PMID 35549682
Drosataki Eleni, Maragkou Sevasti, Dermitzaki Kleio and 7 more
Mutation analysis reveals novel and known mutations in SAG gene in first two Egyptian families with Oguchi disease.
BMC ophthalmology | 2022-05-12 | PMID 35549688
Tawfik Caroline Atef, Elbagoury Nagham Maher, Khater Noha Ibrahim and 1 more
The effects of dantrolene in the presence or absence of ryanodine receptor type 1 variants in individuals predisposed to malignant hyperthermia.
Anaesthesia and intensive care | 2022-07-01 | PMID 35549722
Noda Yuko, Mukaida Keiko, Miyoshi Hirotsugu and 5 more
SNPs, adipokynes and adiposity in children with asthma.
The Journal of asthma : official journal of the Association for the Care of Asthma | 2023-03-01 | PMID 35549796
Machado M E, Porto L C, Alves Galvão M G and 2 more