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.

Semantic proximity supports literature exploration. It does not establish scientific or clinical evidence.

Publications

Page 8862 of 10600

Association between genetic mutations and risk of venous thromboembolism in patients with solid tumor malignancies: A systematic review and meta-analysis.
Thrombosis research | 2022-05-01 | PMID 35290837
Abufarhaneh Mohammed, Pandya Rudra Kashyap, Alkhaja Ahmed and 3 more
NTRK-fusions in pediatric thyroid tumors: Current state and future perspectives.
Cancer genetics | 2022-06-01 | PMID 35290879
Casado-Medrano Victoria, O'Neill Alison, Halada Stephen and 3 more
Minimal Critical Region and Genes for a Typical Presentation of Langer-Giedion Syndrome.
Cytogenetic and genome research | 2022-01-01 | PMID 35290978
Favilla Bianca Pereira, Burssed Bruna, Yamashiro Coelho Érika Mitie and 5 more
Genotypic variation in root architectural traits under contrasting phosphorus levels in Mediterranean and Indian origin lentil genotypes.
PeerJ | 2022-01-01 | PMID 35291490
Aski Muraleedhar, Mehra Reena, Mishra Gyan Prakash and 14 more
Metabolic complete tumor response in a patient with epidermal growth factor receptor mutant non-small cell lung cancer treated with a reduced dose of afatinib.
The Journal of international medical research | 2022-03-01 | PMID 35291829
Puliafito Ivana, Esposito Francesca, Raciti Gabriele and 6 more
Trait-based approaches to global change ecology: moving from description to prediction.
Proceedings. Biological sciences | 2022-03-30 | PMID 35291837
Green Stephanie J, Brookson Cole B, Hardy Natasha A and 1 more
Group composition of individual personalities alters social network structure in experimental populations of forked fungus beetles.
Biology letters | 2022-03-01 | PMID 35291883
Cook Phoebe A, Baker Olivia M, Costello Robin A and 2 more
Compound heterozygous mutations in the SLC4A11 gene associated with congenital hereditary endothelial dystrophy in a Chinese family.
Ophthalmic genetics | 2022-08-01 | PMID 35291925
Liu Min, Xia Jia-Li, Yang Hong and 1 more
The genomic basis of the Streptococcus thermophilus health-promoting properties.
BMC genomics | 2022-03-16 | PMID 35291951
Roux Emeline, Nicolas Aurélie, Valence Florence and 5 more
Characterization of runs of homozygosity, heterozygosity-enriched regions, and population structure in cattle populations selected for different breeding goals.
BMC genomics | 2022-03-16 | PMID 35291953
Mulim Henrique Alberto, Brito Luiz F, Pinto Luís Fernando Batista and 4 more
A case report of Sanfilippo syndrome - the long way to diagnosis.
BMC neurology | 2022-03-15 | PMID 35291973
Lorenz Delia, Musacchio Thomas, Kunstmann Erdmute and 5 more
Mendelian randomization study of circulating lipids and biliary tract cancer among East Asians.
BMC cancer | 2022-03-15 | PMID 35291981
Wang Jun, Zhuge Jinke, Feng Dongxu and 6 more
Identification and pathogenicity of hepatitis E Virus from laboratory Bama miniature pigs.
BMC veterinary research | 2022-03-15 | PMID 35292024
Liu Baoyuan, Chen Yiyang, Zhang Meimei and 6 more
Target-oriented prioritization: targeted selection strategy by integrating organismal and molecular traits through predictive analytics in breeding.
Genome biology | 2022-03-15 | PMID 35292095
Yang Wenyu, Guo Tingting, Luo Jingyun and 5 more
Novel Method for Rapid Detection of COVID-19 Omicron Variant and Future Emerging Variants.
Discovery medicine | 2000-01-01 | PMID 35292130
Leng Qixin, Mixson A James
Neonatal myofibrillar myopathy type II associated with biallelic UNC-45B gene novel mutation and perinatal myasthenia as the core phenotype: A case report.
Clinica chimica acta; international journal of clinical chemistry | 2022-06-01 | PMID 35292251
Shi Le-Yang, Liu Yu, Hu Xiao-Feng and 6 more
Whole-Genome Sequencing Identifies Novel Heterozygous Mutation in ALMS1 in Three Men With Both Peyronie's and Dupuytren's Disease.
Urology | 2022-08-01 | PMID 35292292
Dullea Alexandra, Efimenko Iakov, Firdaus Fakiha and 4 more
Genome-wide selection and introgression of Chinese rice varieties during breeding.
Journal of genetics and genomics = Yi chuan xue bao | 2022-05-01 | PMID 35292419
Ge Jinyue, Wang Junrui, Pang Hongbo and 22 more
Generation of human induced pluripotent stem cell lines derived from four DiGeorge syndrome patients with 22q11.2 deletion.
Stem cell research | 2022-05-01 | PMID 35292424
Shimizu Tomoya, Matsuo-Takasaki Mami, Luijkx Dorian and 7 more
Germline mutation landscape of DNA damage repair genes in African Americans with prostate cancer highlights potentially targetable RAD genes.
Nature communications | 2022-03-15 | PMID 35292633
Kohaar Indu, Zhang Xijun, Tan Shyh-Han and 21 more
Genetic diversity and population structure of an African yam bean (Sphenostylis stenocarpa) collection from IITA GenBank.
Scientific reports | 2022-03-15 | PMID 35292678
Shitta Ndenum Suzzy, Unachukwu Nnanna, Edemodu Alex Chukwudi and 3 more
A genetic risk score of alleles related to MGUS interacts with socioeconomic position in a population-based cohort.
Scientific reports | 2022-03-15 | PMID 35292679
Baak Lisa, Frank Mirjam, Dürig Jan and 7 more
BRCA1 mutations in high-grade serous ovarian cancer are associated with proteomic changes in DNA repair, splicing, transcription regulation and signaling.
Scientific reports | 2022-03-15 | PMID 35292711
Bradbury Melissa, Borràs Eva, Castellví Josep and 6 more
The different overall survival between single-agent EGFR-TKI treatment and with bevacizumab in non-small cell lung cancer patients with brain metastasis.
Scientific reports | 2022-03-15 | PMID 35292755
Chiu Tzu-Hsuan, Tung Pi-Hung, Huang Chi-Hsien and 9 more
The European MAPPYACTS Trial: Precision Medicine Program in Pediatric and Adolescent Patients with Recurrent Malignancies.
Cancer discovery | 2022-05-02 | PMID 35292802
Berlanga Pablo, Pierron Gaelle, Lacroix Ludovic and 26 more
A phenome-wide bidirectional Mendelian randomization analysis of atrial fibrillation.
International journal of epidemiology | 2022-08-10 | PMID 35292824
Wang Qin, Richardson Tom G, Sanderson Eleanor and 4 more
The oligodendroglial histological features are not independently predictive of patient prognosis in lower-grade gliomas.
Brain tumor pathology | 2022-04-01 | PMID 35292862
Pareira Eriel Sandika, Shibuya Makoto, Ohara Kentaro and 10 more
Unraveling genetic admixture in the Indian crossbred cattle by different approaches using Bovine 50K BeadChip.
Tropical animal health and production | 2022-03-15 | PMID 35292868
Pal Dhan, Panigrahi Manjit, Chhotaray Supriya and 7 more
Targeting the E1 ubiquitin-activating enzyme (UBA1) improves elexacaftor/tezacaftor/ivacaftor efficacy towards F508del and rare misfolded CFTR mutants.
Cellular and molecular life sciences : CMLS | 2022-03-16 | PMID 35292885
Borgo Christian, D'Amore Claudio, Capurro Valeria and 6 more
Intestinal and extraintestinal neoplasms in patients with NTHL1 tumor syndrome: a systematic review.
Familial cancer | 2022-10-01 | PMID 35292903
Beck S H, Jelsig A M, Yassin H M and 3 more
Association of gene polymorphisms with body weight changes in prediabetic patients.
Molecular biology reports | 2022-06-01 | PMID 35292917
Valeeva Farida V, Medvedeva Mariya S, Khasanova Kamilya B and 5 more
Physiologically-Based Pharmacokinetic-Led Guidance for Patients With Cystic Fibrosis Taking Elexacaftor-Tezacaftor-Ivacaftor With Nirmatrelvir-Ritonavir for the Treatment of COVID-19.
Clinical pharmacology and therapeutics | 2022-06-01 | PMID 35292968
Hong Eunjin, Almond Lisa M, Chung Peter S and 2 more
Defects in meristem maintenance, cell division, and cytokinin signaling are early responses in the boron deficient maize mutant tassel-less1.
Physiologia plantarum | 2022-03-01 | PMID 35292977
Matthes Michaela S, Darnell Zoe, Best Norman B and 5 more
Functional characterization of cAMP signaling of variant porcine MC1R alleles in PK15 cells.
Animal genetics | 2022-06-01 | PMID 35292981
Lan Jin, Wang Min, Qin Ke and 6 more
Comparison of genomic prediction methods for residual feed intake in broilers.
Animal genetics | 2022-06-01 | PMID 35292985
He Zhengxiao, Li Sen, Li Wei and 7 more
Fatty acid desaturase 2 affects the milk-production traits in Chinese Holsteins.
Animal genetics | 2022-06-01 | PMID 35292995
Fu Yihan, Jia Ruike, Xu Lingna and 6 more
GSTT1, an increased risk factor for prostate cancer in patients with metabolic syndrome.
Journal of clinical laboratory analysis | 2022-04-01 | PMID 35293017
Liu Dongdong, Che Bangwei, Chen Pan and 6 more
Does genetic variation in a bitter taste receptor gene alter early smoking behaviours in adolescents and young adults?
Addiction (Abingdon, England) | 2022-07-01 | PMID 35293057
Alsaafin Alaa, Chenoweth Meghan Jo-Ann, Sylvestre Marie-Pierre and 2 more
Phenotypic selection on an ornamental trait is not modulated by breeding density in a pied flycatcher population.
Journal of evolutionary biology | 2022-04-01 | PMID 35293060
Morales-Mata José Ignacio, Potti Jaime, Camacho Carlos and 2 more
Prevalence and prognosis of chronic fibrosing interstitial lung diseases with a progressive phenotype.
Respirology (Carlton, Vic.) | 2022-05-01 | PMID 35293077
Takei Reoto, Brown Kevin K, Yamano Yasuhiko and 10 more
GNAQ T96S mutation abrogates the ability of wild-type GNAQ to induce apoptosis by phosphorylating annexin A2 in natural killer/T cell lymphoma.
Cancer science | 2022-07-01 | PMID 35293080
Zhao Wugan, Zhang Min, Wang Guannan and 8 more
Pretreatment drug resistance in people living with HIV: A large retrospective cohort study in Chongqing, China.
HIV medicine | 2022-03-01 | PMID 35293098
Liu Min, He Xiao-Qing, Deng Ren-Ni and 8 more
Pre-treatment and acquired antiretroviral drug resistance among people living with HIV in Tianjin, China.
HIV medicine | 2022-03-01 | PMID 35293099
Gao Liying, Xia Huan, Zeng Rui and 4 more
Interactions of physical activity, muscular fitness, adiposity, and genetic risk for NAFLD.
Hepatology communications | 2022-07-01 | PMID 35293152
Schnurr Theresia M, Katz Sophia Figueroa, Justesen Johanne M and 8 more
A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing.
Molecular genetics & genomic medicine | 2022-05-01 | PMID 35293157
Grosz Bianca R, Tisch Stephen, Tchan Michel C and 11 more
[Genetic diversity and distribution of bovine pestiviruses (Flaviviridae: Pestivirus) in the world and in the Russian Federation].
Voprosy virusologii | 2022-03-15 | PMID 35293185
Glotov A G, Glotova T I, Nefedchenko A V and 1 more
[Mutations in the UL97 gene of cytomegalovirus (Herpesvirales: Herpesviridae: Cytomegalovirus: Human betaherpesvirus 5) associated with ganciclovir resistance in recipients of allogeneic hematopoietic stem cells].
Voprosy virusologii | 2022-03-15 | PMID 35293187
Demin M V, Tikhomirov D S, Biderman B V and 4 more
[Identification by enzyme immunoassay of escape mutants S143L and G145R of hepatitis B virus (Hepadnaviridae: Orthohepadnavirus: Hepatitis B virus)].
Voprosy virusologii | 2022-03-15 | PMID 35293188
Konopleva M V, Feldsherova A A, Elgort D A and 5 more
Single Mutation on Trastuzumab Modulates the Stability of Antibody-Drug Conjugates Built Using Acetal-Based Linkers and Thiol-Maleimide Chemistry.
Journal of the American Chemical Society | 2022-03-30 | PMID 35293206
Ferhati Xhenti, Jiménez-Moreno Ester, Hoyt Emily A and 15 more
Mutation of spexin2 promotes feeding, somatic growth, adiposity, and insulin resistance in zebrafish.
American journal of physiology. Regulatory, integrative and comparative physiology | 2022-05-01 | PMID 35293264
Zhao Tingting, Ye Zhifeng, Liu Yun and 3 more
Effects of Interleukin-10 -1082G/A and -592C/A Gene Polymorphisms on the Risk of Human Immunodeficiency Virus-1 Infection: An Updated Meta-analysis.
Iranian journal of immunology : IJI | 2022-03-01 | PMID 35293349
Wang Zhi-Hui, Wu Yue, Dai Zi-Wei and 2 more
Cytokine Gene Polymorphisms in Chinese Children with Idiopathic Nephrotic Syndrome.
Iranian journal of immunology : IJI | 2022-03-01 | PMID 35293350
Li Wei, Li Lin, He Lin and 5 more
Genetic polymorphisms and protein levels in vocal fold leukoplakia: a systematic review.
Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas | 2022-01-01 | PMID 35293553
Campello C P, Lima-Silva M F B, Lima E L S de and 6 more
From random to predictive: a context-specific interaction framework improves selection of drug protein-protein interactions for unknown drug pathways.
Integrative biology : quantitative biosciences from nano to macro | 2022-03-21 | PMID 35293584
Wilson Jennifer L, Gravina Alessio, Grimes Kevin
Characterization of a novel zebrafish model of SPEG-related centronuclear myopathy.
Disease models & mechanisms | 2022-05-01 | PMID 35293586
Espinosa Karla G, Geissah Salma, Groom Linda and 5 more
Potential impact of GCK, MIR-196A-2 and MIR-423 gene abnormalities on the development and progression of type 2 diabetes mellitus in Asir and Tabuk regions of Saudi Arabia.
Molecular medicine reports | 2022-05-01 | PMID 35293603
Mir Mohammad Muzaffar, Mir Rashid, Alghamdi Mushabab Ayed Abdullah and 8 more
Exploration of Genetic Variants of Non-syndromic Cleft Lip with or without Palate and Underlying Mechanisms.
The Chinese journal of dental research | 2022-03-16 | PMID 35293707
Pan Yong Chu, Ma Lan, Lou Shu and 3 more
SARS-CoV-2 Evolution: On the Sudden Appearance of the Omicron Variant.
Journal of virology | 2022-04-13 | PMID 35293771
Berkhout Ben, Herrera-Carrillo Elena
Mutation of MtrA at the Predicted Phosphorylation Site Abrogates Its Role as a Global Regulator in Streptomyces venezuelae.
Microbiology spectrum | 2022-04-27 | PMID 35293797
Lu Ting, Zhu Yanping, Ni Xue and 4 more
Gene variants previously associated with reduced soft tissue injury risk: Part 1 - independent associations with elite status in rugby.
European journal of sport science | 2023-05-01 | PMID 35293840
Brazier Jon, Antrobus Mark R, Herbert Adam J and 11 more
Analysis of SARS-CoV-2 variants B.1.617: host tropism, proteolytic activation, cell-cell fusion, and neutralization sensitivity.
Emerging microbes & infections | 2022-12-01 | PMID 35293847
Zhang Li, Li Qianqian, Wu Jiajing and 19 more
RT-LAMP assay for rapid detection of the R203M mutation in SARS-CoV-2 Delta variant.
Emerging microbes & infections | 2022-12-01 | PMID 35293849
Yang Jianing, Hu Xuejiao, Wang Wenzhuo and 6 more
Immune escape facilitation by mutations of epitope residues in RdRp of SARS-CoV-2.
Journal of biomolecular structure & dynamics | 2023-05-01 | PMID 35293850
Mallick Gupta Aayatti, Mandal SasthiCharan, Mandal Sukhendu and 1 more
Familial Hemophagocytic Lymphohistiocytosis With Heterozygous STX11 and Homozygous UNC13D Mutations Diagnosed in the Neonatal Period.
Journal of pediatric hematology/oncology | 2022-05-01 | PMID 35293882
Bahadir Aysenur, Kader Şebnem, Çebi Alper Han and 3 more
Placental structure, function, and mitochondrial phenotype relate to fetal size in each fetal sex in mice†.
Biology of reproduction | 2022-06-13 | PMID 35293971
Salazar-Petres Esteban, Pereira-Carvalho Daniela, Lopez-Tello Jorge and 1 more
Properties of 2-locus genealogies and linkage disequilibrium in temporally structured samples.
Genetics | 2022-05-05 | PMID 35294015
Biddanda Arjun, Steinrücken Matthias, Novembre John
EAR APICAL DEGENERATION1 regulates maize ear development by maintaining malate supply for apical inflorescence.
The Plant cell | 2022-05-24 | PMID 35294020
Pei Yuanrong, Deng Yanan, Zhang Huairen and 13 more
Genetic variation in PLAG1 is associated with early fertility in Australian Brahman cattle.
Journal of animal science | 2022-04-01 | PMID 35294025
Engle Bailey N, Hayes Ben J
Longitudinal Evaluation of Circulating Tumor DNA Using Sensitive Amplicon-Based Next-Generation Sequencing to Identify Resistance Mechanisms to Immune Checkpoint Inhibitors for Advanced Urothelial Carcinoma.
The oncologist | 2022-05-06 | PMID 35294031
Ravi Praful, Ravi Arvind, Riaz Irbaz B and 10 more
Increased referrals for congenital hyperinsulinism genetic testing in children with trisomy 21 reflects the high burden of non-genetic risk factors in this group.
Pediatric diabetes | 2022-06-01 | PMID 35294086
Hewat Thomas I, Laver Thomas W, Houghton Jayne A L and 13 more
Transborder molecular analysis of drug-resistant tuberculosis in Mongolia and Eastern Siberia, Russia.
Transboundary and emerging diseases | 2022-09-01 | PMID 35294112
Zhdanova Svetlana, Mokrousov Igor, Orlova Elizaveta and 2 more
Associative genetic diversity among Sarcocystis cruzi isolates from Northern India based on 18S ribosomal gene.
Annals of parasitology | 2021-01-01 | PMID 35294147
Sudan Vikrant, Shanker Daya, Kumar Rahul and 1 more
Targeted Sanger sequencing to recover key mutations in SARS-CoV-2 variant genome assemblies produced by next-generation sequencing.
Microbial genomics | 2022-03-01 | PMID 35294336
Singh Lavanya, San James E, Tegally Houriiyah and 11 more
MurA escape mutations uncouple peptidoglycan biosynthesis from PrkA signaling.
PLoS pathogens | 2022-03-01 | PMID 35294506
Wamp Sabrina, Rothe Patricia, Stern Daniel and 3 more
TNFRSF1B and TNF Variants Are Associated With Differences in Levels of Soluble Tumor Necrosis Factor Receptors in Patients With Severe COVID-19.
The Journal of infectious diseases | 2022-09-13 | PMID 35294530
Fricke-Galindo Ingrid, Buendía-Roldán Ivette, Ruiz Andy and 18 more
Integrative Genomic Profiling Uncovers Therapeutic Targets of Acral Melanoma in Asian Populations.
Clinical cancer research : an official journal of the American Association for Cancer Research | 2022-06-13 | PMID 35294533
Shi Qiong, Liu Lin, Chen Jianru and 14 more
Prognostic Significance of DNA Methylation Profiles at MRI Enhancing Tumor Recurrence: a Report from the EORTC 26091 TAVAREC Trial.
Clinical cancer research : an official journal of the American Association for Cancer Research | 2022-06-01 | PMID 35294545
Draaisma Kaspar, Tesileanu C Mircea S, de Heer Iris and 19 more
Description of the first Spanish case of Gerstmann-Sträussler-Scheinker disease with A117V variant: clinical, histopathological and biochemical characterization.
Journal of neurology | 2022-08-01 | PMID 35294616
Eraña Hasier, San Millán Beatriz, Díaz-Domínguez Carlos M and 10 more
Screening of OTULIN gene mutation with targeted next generation sequencing in Turkish populations and in silico analysis of these mutations.
Molecular biology reports | 2022-06-01 | PMID 35294702
Gezgin Yüksel, Kırnaz Berkay, Berdeli Afig
In Utero Development and Immunosurveillance of B Cell Acute Lymphoblastic Leukemia.
Current treatment options in oncology | 2022-04-01 | PMID 35294722
Rüchel Nadine, Jepsen Vera H, Hein Daniel and 3 more
IMPACT and OSBPL1A are two isoform-specific imprinted genes in bovines.
Theriogenology | 2022-05-01 | PMID 35294861
Dong Yanqiu, Jin Lanjie, Liu Xiaoqian and 5 more
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.
Cell reports | 2022-03-15 | PMID 35294868
Marcogliese Paul C, Deal Samantha L, Andrews Jonathan and 58 more
A hotspot mutation targeting the R-RAS2 GTPase acts as a potent oncogenic driver in a wide spectrum of tumors.
Cell reports | 2022-03-15 | PMID 35294890
Fernández-Pisonero Isabel, Clavaín Laura, Robles-Valero Javier and 13 more
Clinical and analytical validation of FoundationOne®CDx, a comprehensive genomic profiling assay for solid tumors.
PloS one | 2022-01-01 | PMID 35294956
Milbury Coren A, Creeden James, Yip Wai-Ki and 20 more
Validation and comparative analysis of kogene mycobacterial interspersed repetitive unit-variable number of tandem repeat typing kit and its application on clinically isolated mycobacterium tuberculosis samples from national tuberculosis hospital, Republic of Korea.
International journal of mycobacteriology | 2000-01-01 | PMID 35295020
Jung Jihee, Kang Taeuk, Hwang Yoohyun and 1 more
Molecular detection of mycobacterium tuberculosis complex species in triatomines found in urban households and Peridomiciles in a city with high prevalence of tuberculosis in Northeastern Brazil.
International journal of mycobacteriology | 2000-01-01 | PMID 35295024
Silva Caroliny Soares, Gondim Costa Lima Luana Nepomuceno, Batista Lima Karla Val Ria and 7 more
Genetic diversity of nontuberculous mycobacteria among symptomatic tuberculosis negative patients in Kenya.
International journal of mycobacteriology | 2000-01-01 | PMID 35295025
Mwangi Zakayo Maingi, Mukiri Nellie Njambi, Onyambu Frank Gekara and 1 more
Genetic polymorphism of toll-like receptors in HIV-I infected patients with and without tuberculosis co-infection.
International journal of mycobacteriology | 2000-01-01 | PMID 35295030
Kaushik Gaurav, Vashishtha Richa, Tripathi Himanshu and 1 more
Evolution analysis of FRIZZY PANICLE (FZP) orthologs explored the mutations in DNA coding sequences in the grass family (Poaceae).
PeerJ | 2022-01-01 | PMID 35295554
Li Jia, Zhang Litian, G Elbaiomy Rania and 10 more
Associations between Gene-Gene Interaction and Overweight/Obesity of 12-Month-Old Chinese Infants.
BioMed research international | 2022-01-01 | PMID 35295960
Mei Hong, Yin Baoming, Yang Wenhong and 6 more
Association Between Adipose Tissue Proton Density Fat Fraction, Resting Metabolic Rate and FTO Genotype in Humans.
Frontiers in endocrinology | 2022-01-01 | PMID 35295982
Drabsch Theresa, Junker Daniela, Bayer Sandra and 5 more
Immunological Classification of Tumor Types and Advances in Precision Combination Immunotherapy.
Frontiers in immunology | 2022-01-01 | PMID 35296094
Ren Xiufang, Guo Songyi, Guan Xiaojiao and 3 more
Lipid-storage myopathy with glycogen storage disease gene mutations mimicking polymyositis: a case report and review of the literature.
The Journal of international medical research | 2022-03-01 | PMID 35296144
Pan Xiaoli, Yuan Yuan, Wu Bangcui and 2 more
Chronic immune thrombocytopenia in a child with X-linked agammaglobulinemia-an uncommon phenotype.
Platelets | 2022-10-03 | PMID 35296220
Yin Jing, Ma Jijun, Liu Xiaoxue and 3 more
Evolution of the recombination regulator PRDM9 in minke whales.
BMC genomics | 2022-03-16 | PMID 35296233
Damm Elena, Ullrich Kristian K, Amos William B and 1 more
Screening for phenotypic outliers identifies an unusually low concentration of a β-lactoglobulin B protein isoform in bovine milk caused by a synonymous SNP.
Genetics, selection, evolution : GSE | 2022-03-16 | PMID 35296234
Davis Stephen R, Ward Hamish E, Kelly Van and 13 more
Identification and characterisation of spontaneous mutations causing deafness from a targeted knockout programme.
BMC biology | 2022-03-17 | PMID 35296311
Lewis Morag A, Ingham Neil J, Chen Jing and 13 more
Genes: ABR
Design and implementation of a novel pharmacogenetic assay for the identification of the CYP2D6*10 genetic variant.
BMC research notes | 2022-03-16 | PMID 35296326
Ranadeva Nadeeka Dimuthu Kumari, Sirisena Nirmala Dushyanthi, Wetthasinghe Tithila Kalum and 2 more
Novel compound heterozygous variants in the PCCB gene causing adult-onset propionic acidemia presenting with neuropsychiatric symptoms: a case report and literature review.
BMC medical genomics | 2022-03-16 | PMID 35296328
Li Yingxuan, Wang Miaomiao, Huang Zhaoyang and 2 more
Microglia phenotypes are associated with subregional patterns of concomitant tau, amyloid-β and α-synuclein pathologies in the hippocampus of patients with Alzheimer's disease and dementia with Lewy bodies.
Acta neuropathologica communications | 2022-03-16 | PMID 35296366
Fixemer Sonja, Ameli Corrado, Hammer Gaël and 8 more