Variant mapping using mass spectrometry-based proteotyping as a diagnostic tool in von Willebrand disease.
Journal of thrombosis and haemostasis : JTH | 2024-07-01 | PMID 38679335
Kreft Iris C, van Duijl Tirsa T, van Kwawegen Calvin and 11 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 9445 of 10600
Population genomics analysis reveals footprints of selective breeding in a rapid-growth variety of Paulownia fortunei with apical dominance.
Genomics | 2024-05-01 | PMID 38679345
Qin Guo-Le, Fu Chuan-Ming, Tang Fan and 3 more
Signature of Altered Retinal Microstructures and Electrophysiology in Schizophrenia Spectrum Disorders Is Associated With Disease Severity and Polygenic Risk.
Biological psychiatry | 2024-11-15 | PMID 38679358
Boudriot Emanuel, Gabriel Vanessa, Popovic David and 18 more
How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype.
European journal of medical genetics | 2024-06-01 | PMID 38679370
Mégarbané Andre, Mehawej Cybel, Mahfoud Daniel and 6 more
Mother and daughter with Kenny-Caffey syndrome: the adult phenotype.
European journal of medical genetics | 2024-06-01 | PMID 38679371
Tonelli L, Sanchini M, Margutti A and 5 more
Associations Between Metabolic Obesity Phenotypes and Pathological Characteristics of Papillary Thyroid Carcinoma.
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists | 2024-07-01 | PMID 38679386
Li Xiuyun, Zhang Xiujuan, Sun Li and 8 more
Phenotypic plasticity, and temporal and spatial variation in the relative abundance of lentic brook trout, Salvelinus fontinalis, across Ontario.
Journal of fish biology | 2024-07-01 | PMID 38679473
Haxton Tim, Ball Helen, Friday Michael J
Hereditary and cortical morphological biomarker of sensitivity to reward in short-term withdrawal methamphetamine abusers.
Cerebral cortex (New York, N.Y. : 1991) | 2024-04-01 | PMID 38679482
Yang Longtao, Yang Wenhan, Tang Fei and 3 more
A long-acting FGF21 attenuates metabolic dysfunction-associated steatohepatitis-related fibrosis by modulating NR4A1-mediated Ly6C phenotypic switch in macrophages.
British journal of pharmacology | 2024-08-01 | PMID 38679486
Ji Yue, Duan Yiliang, Li Yuanyuan and 8 more
Advancements in genetic techniques and functional genomics for enhancing crop traits and agricultural sustainability.
Briefings in functional genomics | 2024-09-27 | PMID 38679487
Kumar Surender, Singh Anupama, Bist Chander Mohan Singh and 1 more
Cytogenetic abnormalities and TP53 and RAS gene profiles of childhood acute lymphoblastic leukemia in Morocco.
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie | 2024-05-01 | PMID 38679547
Skhoun Hanaa, El Fessikh Meriem, El Alaoui Al Abdallaoui Mohamed and 8 more
Genome-wide association study of metabolic dysfunction-associated fatty liver disease in a Korean population.
Scientific reports | 2024-04-29 | PMID 38679617
Lee Young, Cho Eun Ju, Choe Eun Kyung and 5 more
Neonatal diagnosis of primary ciliary dyskinesia in a high consanguinity population: a single tertiary center experience.
European journal of pediatrics | 2024-08-01 | PMID 38679661
Arwas Noga, Gatt Dvir, Aviram Micha and 5 more
The genetic basis and process of inbreeding depression in an elite hybrid rice.
Science China. Life sciences | 2024-08-01 | PMID 38679669
Xu Xiaodong, Xu Yawen, Che Jian and 10 more
Genetic interaction between TTG2 and AtPLC1 reveals a role for phosphoinositide signaling in a co-regulated suite of Arabidopsis epidermal pathways.
Scientific reports | 2024-04-28 | PMID 38679676
Goldberg Aleah, O'Connor Patrick, Gonzalez Cassandra and 7 more
Expression profiling of Nuclear Factor-Y (NF-Y) transcription factors during dehydration and salt stress in finger millet reveals potential candidate genes for multiple stress tolerance.
Planta | 2024-04-28 | PMID 38679693
Rani Varsha, Rana Sumi, Muthamilarasan Mehanathan and 2 more
Unprecedented variation pattern of plastid genomes and the potential role in adaptive evolution in Poales.
BMC biology | 2024-04-29 | PMID 38679718
Wu Hong, Li De-Zhu, Ma Peng-Fei
Differences in DNA methylation status explain phenotypic variability in patients with 5p- syndrome.
BMC research notes | 2024-04-29 | PMID 38679724
Almeida Vanessa Tavares, Chehimi Samar N, Carvalho Gleyson F S and 6 more
Association of whole-person eigen-polygenic risk scores with Alzheimer's disease.
Human molecular genetics | 2024-07-22 | PMID 38679805
Kharaghani Amin, Tio Earvin S, Milic Milos and 5 more
Vitamin D receptor gene polymorphisms role in COVID-19 severity: Results of a Mexican patients' cohort.
International journal of immunogenetics | 2024-08-01 | PMID 38679820
Ochoa-Ramírez Luis Antonio, Corona-Angulo Alba Lissy, Ríos-Burgueño Efrén Rafael and 3 more
Syndromic craniosynostosis caused by a novel missense variant in MAP4K4: Expanding the genotype-phenotype relationship in RASopathies.
Clinical genetics | 2024-08-01 | PMID 38679877
Yoon Jihoon G, Yu Jung Woo, Shim Kyu Won and 2 more
Genes: MAP4K4
The effects of fatty acids on psoriasis: A two-sample mendelian randomization study.
Journal of cosmetic dermatology | 2024-08-01 | PMID 38679892
Huang Yuanjie, Chen Zedong, Wu Xuerui and 2 more
Investigating the causal association between systemic lupus erythematosus and migraine using Mendelian randomization analysis.
Headache | 2024-06-01 | PMID 38679912
Xu Danfeng, Wu Bing
A Comprehensive Integration of Data Regarding the Correlation of TNF-α rs1800629 Polymorphism with Susceptibility to Cervical Cancer.
Asian Pacific journal of cancer prevention : APJCP | 2024-04-01 | PMID 38679974
Marzbanrad Zahra, Karimi-Zarchi Mojgan, Noei-Teymoordash Somayeyeh and 10 more
Efficacy and Toxicity of Vincristine and CYP3A5 Genetic Polymorphism in Rhabdomyosarcoma Pediatric Egyptian Patients.
Asian Pacific journal of cancer prevention : APJCP | 2024-04-01 | PMID 38680001
Shalaby Norhan, Zaki Hala F, Badary Osama A and 8 more
Cholesterol Ester Transfer Protein Taq1B Polymorphism and Its Association with Cardiovascular Risk Factors in Patients Undergoing Angiography in Yazd, Eastern Iran: A Cross-Sectional Study.
Iranian journal of medical sciences | 2024-04-01 | PMID 38680219
Ahmadi-Vasmehjani Azam, SeyedHosseini Seyed Mostafa, Khayyatzadeh Sayyed Saeid and 10 more
Association of ARRDC3 and NFIA variants with bovine congestive heart failure in feedlot cattle.
F1000Research | 2022-01-01 | PMID 38680232
Heaton Michael P, Harhay Gregory P, Bassett Adam S and 13 more
Genes: ARRDC3, NFIA
Case report: Rubella virus-associated cutaneous granuloma in an adult with TAP1 deficiency.
Frontiers in immunology | 2024-01-01 | PMID 38680488
Wang Qiaohui, Su Huilin, Han Jiande and 2 more
Genes: TAP1
Mendelian randomization and transcriptome analysis identified immune-related biomarkers for osteoarthritis.
Frontiers in immunology | 2024-01-01 | PMID 38680491
Pang Wei-Wei, Cai Yi-Sheng, Cao Chong and 8 more
Genes: FCER1G
Inflammatory cytokine profiles in erectile dysfunction: a bidirectional Mendelian randomization.
Frontiers in immunology | 2024-01-01 | PMID 38680495
Liu Dongze, Qin Zheng, Yi Bocun and 5 more
Genes: TNF
Discovery of a peculiar insular race of Ravenna nivea (Nire, 1920) (Lepidoptera: Lycaenidae) endemic to Yinggeling Mountain of Hainan, suggesting heterogeneous geological history of mountain formation of the island.
PeerJ | 2024-01-01 | PMID 38680885
Hsu Yu-Feng, Lo Yik Fui Philip, Lin Rung-Juen
Validation for the function of protein C in mouse models.
PeerJ | 2024-01-01 | PMID 38680896
Liu Ya, Cai Maoping, Chen Yan and 3 more
Type 1 diabetes mellitus and non-alcoholic fatty liver disease: a two-sample Mendelian randomization study.
Frontiers in endocrinology | 2024-01-01 | PMID 38681765
Tuo Lin, Yan Li-Ting, Liu Yi and 1 more
The genetic association between hyperthyroidism and heart failure: a Mendelian randomization study.
Frontiers in endocrinology | 2024-01-01 | PMID 38681769
Liu Jun, Wu Gujie, Li Shuqi and 2 more
Echinococcus granulosus comparative genotyping in sheep in Saudi Arabia and Egypt.
Open veterinary journal | 2024-03-01 | PMID 38682137
Alkhaldi Abdulsalam A M
The Genetic Diversity of Nipah Virus Across Spatial Scales.
The Journal of infectious diseases | 2024-12-16 | PMID 38682164
Cortes-Azuero Oscar, Lefrancq Noémie, Nikolay Birgit and 11 more
A Cell Specific Effect of MBOAT7 MAFLD-risk Variant on Immune Cells.
Frontiers in bioscience (Landmark edition) | 2024-04-11 | PMID 38682204
Pan Ziyan, Alharthi Jawaher, Bayoumi Ali and 2 more
Genes: MBOAT7
Optical coherence tomography-guided Brillouin microscopy highlights regional tissue stiffness differences during anterior neural tube closure in the Mthfd1l murine mutant.
Development (Cambridge, England) | 2024-05-15 | PMID 38682273
Ambekar Yogeshwari S, Caiaffa Carlo Donato, Wlodarczyk Bogdan J and 8 more
Hansenula polymorpha cells lacking the ER-localized peroxins Pex23 or Pex29 show defects in mitochondrial function and morphology.
Biology open | 2024-05-15 | PMID 38682287
Chen Haiqiong, de Boer Rinse, Krikken Arjen M and 2 more
Cell coupling compensates for changes in single-cell Her6 dynamics and provides phenotypic robustness.
Development (Cambridge, England) | 2024-05-15 | PMID 38682303
Doostdar Parnian, Hawley Joshua, Chopra Kunal and 6 more
Predicted deleterious variants in ABCA1, LPL, LPA and KIF6 are associated with statin response and adverse events in patients with familial hypercholesterolemia and disturb protein structure and stability.
Pharmacogenetics and genomics | 2024-06-01 | PMID 38682317
Dagli-Hernandez Carolina, Ferreira Glaucio Monteiro, Freitas Renata Caroline Costa de and 9 more
Novel variant in Nudix hydrolase 15 gene influences 6-mercaptopurine toxicity in childhood acute lymphoblastic leukemia patients.
Pharmacogenetics and genomics | 2024-07-01 | PMID 38682355
Sabirova Zarina, Mahnoor Shazia, Lasfar Dina and 7 more
Exploring genetic variants in congenital monosaccharide-disaccharide metabolism: Carrier ratios and phenotypic insights.
Journal of pediatric gastroenterology and nutrition | 2024-06-01 | PMID 38682389
Akcan Mehmet Berkay, Silan Fatma
Genes: GALE, SI, ALDOB, FBP1, GALK1, GALM, GALT, LCT
Eosinophils and risk of ulcerative colitis in European population: Evidence from Mendelian randomization study.
Environmental toxicology | 2024-10-01 | PMID 38682394
Shao Yijia, Liu Cong, Wang Xiuqi and 1 more
A naturally occurring canine model of syndromic congenital microphthalmia.
G3 (Bethesda, Md.) | 2024-06-05 | PMID 38682429
Murgiano Leonardo, Banjeree Esha, O'Connor Cynthia and 5 more
Genes: DNAJC21, DNAJC1
Combining genome-wide association study and transcriptome analysis to identify molecular markers and genetic basis of population-asynchronous ovarian development in Coilia nasus.
Zoological research | 2024-05-18 | PMID 38682431
Yu Yue, Wan Shi-Ming, Huang Cheng-You and 7 more
Topical hidden genome: discovering latent cancer mutational topics using a Bayesian multilevel context-learning approach.
Biometrics | 2024-03-27 | PMID 38682463
Chakraborty Saptarshi, Guan Zoe, Begg Colin B and 1 more
Limited genomic signatures of population collapse in the critically endangered black abalone (Haliotis cracherodii).
Molecular ecology | 2025-12-01 | PMID 38682494
Wooldridge Brock, Orland Chloé, Enbody Erik and 8 more
SynDesign: web-based prime editing guide RNA design and evaluation tool for saturation genome editing.
Nucleic acids research | 2024-07-05 | PMID 38682594
Park Jinman, Yu Goosang, Seo Sang-Yeon and 2 more
Segregation, immunohistochemical, molecular and functional analyses classify a novel missense variant in fumarate hydratase (FH) as pathogenic.
Genes, chromosomes & cancer | 2024-02-01 | PMID 38682608
Ouchene Lydia, Wilde Blake, Chan-Pak-Choon Fiona and 10 more
Pharmacogenomic study of gemcitabine efficacy in patients with metastatic pancreatic cancer: A multicenter, prospective, observational cohort study (GENESECT study).
Cancer | 2024-09-01 | PMID 38682652
Hatori Masahiro, Tsuji Daiki, Suzuki Kenichi and 19 more
Genotype of dengue virus serotype 1 in relation to severe dengue in Guangzhou, China.
Journal of medical virology | 2024-05-01 | PMID 38682660
Leng Xing-Yu, Zhao Ling-Zhai, Liao Lu and 3 more
The protective role of water intake in age-related eye diseases: insights from a Mendelian randomization study.
Food & function | 2024-05-07 | PMID 38682722
Mi Yuze, Zhu Qinnan, Zheng Xinni and 1 more
Assessment of ADRB1 polymorphism in patients with acute coronary syndrome treated with ticagrelor and aspirin.
Personalized medicine | 2024-01-01 | PMID 38682747
Zhang Xiang, Yuan Qi, Zhang Dawei
Genes: ADRB1
Genetic parameters for mid-infrared-spectroscopy-predicted mastitis phenotypes and related traits.
Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie | 2024-11-01 | PMID 38682760
Rienesl Lisa, Fuerst-Waltl Birgit, Mészáros Gábor and 5 more
miRSNP rs188493331: A key player in genetic control of microRNA-induced pathway activation in hypertrophic scars and keloids.
Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI) | 2024-05-01 | PMID 38682767
Chen Meiqing, Pan Yuyan, Chen Zhiwei and 5 more
Multidrug-resistant Stenotrophomonas maltophilia in residential aged care facilities: An emerging threat.
MicrobiologyOpen | 2024-06-01 | PMID 38682784
Sapula Sylvia A, Hart Bradley J, Siderius Naomi L and 3 more
A novel AP1S2 variant causing leaky splicing in X-linked intellectual disability: Further delineation and intrafamilial variability.
American journal of medical genetics. Part A | 2024-09-01 | PMID 38682877
Noojarern Saisuda, Tim-Aroon Thipwimol, Anurat Kingthong and 3 more
Nitric oxide signaling through three receptors regulates virulence, biofilm formation, and phenotypic heterogeneity of Legionella pneumophila.
mBio | 2024-06-12 | PMID 38682908
Michaelis Sarah, Chen Tong, Schmid Camille and 1 more
Experimental evolution of Staphylococcus aureus in macrophages: dissection of a conditional adaptive trait promoting intracellular survival.
mBio | 2024-06-12 | PMID 38682911
Alves Joana, Vrieling Manouk, Ring Natalie and 5 more
Technological advancements in functional interpretation of genome-wide association studies (GWAS) findings: bridging the gap to clinical translation.
FEBS letters | 2024-12-01 | PMID 38683017
Aherrahrou Redouane, Kaikkonen Minna U
[Immunophenotyping by spectral cytometry reveals a profile of lymphopenia associated with deregulation with an increase in effector memory lymphocytes in a patient with a mutation in the ITPR3 gene].
Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993) | 2024-02-01 | PMID 38683077
Muñoz César, de Vivero María Mónica, Acevedo Nathalie
[HLA genotypes associated with gastrointestinal symptoms in patients with spondyloarthritis without inflammatory bowel disease].
Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993) | 2024-02-01 | PMID 38683083
Meneses-Toro Maria Alejandra, Calixto Omar Javier, Parra-Izquierdo Viviana and 7 more
[Characterization of asthma phenotypes in children of the tropics].
Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993) | 2024-02-01 | PMID 38683091
Guzmán María Camila, de Vivero María, Gil Isabel and 6 more
[HLA alleles heterogeneity in a sample of colombian patients with a diagnosis of psoriatic arthritis].
Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993) | 2024-02-01 | PMID 38683100
Meneses-Toro María Alejandra, Calixto Ómar Javier, Chacón-Jaramillo Paula Andrea and 7 more
Causal association of metformin treatment with diverse cardiovascular diseases: a Mendelian randomization analysis.
Aging | 2024-04-26 | PMID 38683129
Li Kaiyuan, Liu Peng, Ye Jun and 2 more
The Genetic Paradigm of Hereditary Breast and Ovarian Cancer (HBOC) in the Afro-Caribbean Population.
Critical reviews in oncogenesis | 2024-01-01 | PMID 38683157
Cerbon Danielle, Taylor Daphanie, Barreto-Coelho Priscila and 4 more
Gamma-rays induced genome wide stable mutations in cowpea deciphered through whole genome sequencing.
International journal of radiation biology | 2024-01-01 | PMID 38683196
Punniyamoorthy Dhanasekar, Souframanien Jegadeesan
[Recent developments in acute kidney injury : Definition, biomarkers, subphenotypes, and management].
Medizinische Klinik, Intensivmedizin und Notfallmedizin | 2024-06-01 | PMID 38683229
Mayerhöfer Timo, Perschinka Fabian, Joannidis Michael
Applicability of SCoT markers in unraveling genetic variation and population structure among sugar beet (Beta vulgaris L.) germplasm.
Molecular biology reports | 2024-04-29 | PMID 38683231
Yalinkiliç Nazlı Aybar, Başbağ Sema, Altaf Muhammad Tanveer and 3 more
Stalk rot species diversity and molecular phylogeny associated with diseased maize in India.
World journal of microbiology & biotechnology | 2024-04-29 | PMID 38683236
Harish J, Venkateshbabu Gopal, Prasannakumar M K and 9 more
ddRAD Sequencing and DNA Barcoding.
Methods in molecular biology (Clifton, N.J.) | 2024-01-01 | PMID 38683321
Ivanov Vladislav, Lee Kyung Min, Mutanen Marko
Conservation of a Chromosome 8 Inversion and Exon Mutations Confirm Common Gulonolactone Oxidase Gene Evolution Among Primates, Including H. Neanderthalensis.
Journal of molecular evolution | 2024-06-01 | PMID 38683367
Mansueto Alexander, Good Deborah J
Quantitative assessment of background parenchymal enhancement is associated with lifetime breast cancer risk in screening MRI.
European radiology | 2024-10-01 | PMID 38683385
Yan Ran, Murakami Wakana, Mortazavi Shabnam and 4 more
Self-(in)compatibility in Tunisian apple accessions [Malus domestica. Borkh]: S-genotypes identification and pollen tube growth analysis.
Planta | 2024-04-29 | PMID 38683389
Abdallah Donia, Ben Mustapha Sana, Balti Imen and 2 more
B-cells absence in patients diagnosed as inborn errors of immunity: a registry-based study.
Immunogenetics | 2024-06-01 | PMID 38683392
Khoshnevisan Razieh, Hassanzadeh Shakiba, Klein Christoph and 10 more
The 5' untranslated region variant rs3811050 C/T of the interleukin-38 encoding gene is associated with susceptibility to rheumatoid arthritis in Iraqi women.
Molecular biology reports | 2024-04-29 | PMID 38683405
Bani-Wais Dhuha F N, Ad'hiah Ali H
Assessing the possible association between MTHFR (rs1801133) and GPx-1 (rs1050450) polymorphisms with the risk of type 2 diabetes, diabetic neuropathy, and diabetic retinopathy.
Molecular biology reports | 2024-04-29 | PMID 38683407
Asadi Soheila, Rahimi Zohreh, Kohsari Maryam and 5 more
Association Between Muscle Growth and Transcription of a Mutant MSTN Gene in Olive Flounder (Paralichthys olivaceus).
Marine biotechnology (New York, N.Y.) | 2024-06-01 | PMID 38683458
Kim Ju-Won, Kim Julan, Cho Ja Young and 7 more
[Multiple endocrine neoplasia and very early onset inflammatory bowel disease. An unexpected association].
Medicina | 2024-01-01 | PMID 38683522
Rossi Santiago I, Baleani Silvia, Prado Ximena and 8 more
FOXO1 Single-Nucleotide Polymorphisms Are Associated with Bleeding Severity and Sensitivity of Glucocorticoid Treatment of Pediatric Immune Thrombocytopenia.
DNA and cell biology | 2024-06-01 | PMID 38683649
Xie Xingjuan, Gu Hao, Ma Jingyao and 5 more
Digital Phenotypes for Early Detection of Internet Gaming Disorder in Adolescent Students: Explorative Data-Driven Study.
JMIR mental health | 2024-04-29 | PMID 38683658
Cho Kwangsu, Kim Minah, Cho Youngeun and 7 more
Performance of amplicon and capture based next-generation sequencing approaches for the epidemiological surveillance of Omicron SARS-CoV-2 and other variants of concern.
PloS one | 2024-01-01 | PMID 38683803
Daviña-Núñez Carlos, Pérez Sonia, Cabrera-Alvargonzález Jorge Julio and 5 more
Understanding the interactions of genotype with environment and management (G×E×M) to enhance maize productivity in Conservation Agriculture systems of Malawi.
PloS one | 2024-01-01 | PMID 38683809
Mhlanga Blessing, Gama Mphatso, Museka Richard and 1 more
Genes: CP
Understanding the determinants of sweet taste liking in the African and East Asian ancestry groups in the U.S.-A study protocol.
PloS one | 2024-01-01 | PMID 38683826
Cheung May M, Hubert Patrice A, Reed Danielle R and 3 more
Identification of bone mineral density associated genes with shared genetic architectures across multiple tissues: Functional insights for EPDR1, PKDCC, and SPTBN1.
PloS one | 2024-01-01 | PMID 38683846
Jung Jongyun, Wu Qing
Genes: EPDR1, PKDCC, SPTBN1
Deep mutational scanning of Pneumocystis jirovecii dihydrofolate reductase reveals allosteric mechanism of resistance to an antifolate.
PLoS genetics | 2024-04-01 | PMID 38683847
Rouleau Francois D, Dubé Alexandre K, Gagnon-Arsenault Isabelle and 5 more
A novel hypergraph model for identifying and prioritizing personalized drivers in cancer.
PLoS computational biology | 2024-04-01 | PMID 38683860
Zhang Naiqian, Ma Fubin, Guo Dong and 5 more
Genes: LRP1
KmerAperture: Retaining k-mer synteny for alignment-free extraction of core and accessory differences between bacterial genomes.
PLoS genetics | 2024-04-01 | PMID 38683871
Moore Matthew P, Laager Mirjam, Ribeca Paolo and 1 more
Genome-wide association studies identifies genetic loci related to fatty acid and branched-chain amino acid metabolism and histone modifications under varying nitrogen treatments in safflower (Carthamus tinctorius).
Functional plant biology : FPB | 2024-04-01 | PMID 38683936
Ali Fawad, Arif Mian A R, Ali Arif and 10 more
Incomplete-penetrant hypertrophic cardiomyopathy MYH7 G256E mutation causes hypercontractility and elevated mitochondrial respiration.
Proceedings of the National Academy of Sciences of the United States of America | 2024-05-07 | PMID 38683993
Lee Soah, Vander Roest Alison S, Blair Cheavar A and 21 more
Genes: MYH7
Human mutations in high-confidence Tourette disorder genes affect sensorimotor behavior, reward learning, and striatal dopamine in mice.
Proceedings of the National Academy of Sciences of the United States of America | 2024-05-07 | PMID 38683996
Nasello Cara, Poppi Lauren A, Wu Junbing and 14 more
Genetic and phenotypic profiling of single living circulating tumor cells from patients with microfluidics.
Proceedings of the National Academy of Sciences of the United States of America | 2024-05-07 | PMID 38683997
Dong Zaizai, Wang Yusen, Xu Gaolian and 19 more
Association of Clinical, Tumor, and Treatment Characteristics With Seizure Control in Patients With IDH1/2-Mutant Lower-Grade Glioma.
Neurology | 2024-05-01 | PMID 38684041
Bruno Francesco, Pellerino Alessia, Conti Nibali Marco and 10 more
Genes: IDH1, CDKN2A
[Preimplantation genetic testing for a Chinese pedigree affected with Rett syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2024-05-10 | PMID 38684295
Duan Siqi, Yue Fagui, Yang Xiao and 2 more
[Clinical features and genetic analysis of 17 Chinese pedigrees affected with X-linked intellectual disability].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2024-05-10 | PMID 38684296
Li Yan, Qin Litao, Yang Ke and 6 more
[Clinical analysis and genetic diagnosis of three children with Isoleucine metabolic disorders due to variants of HSD17B10 and ACAT1 genes].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2024-05-10 | PMID 38684297
Ji Wei, Tian Guoli, Zhang Xiaofen and 4 more
[Clinical and genetic characteristics of four children with Kabuki syndrome due to de novo variants of KMT2D gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2024-05-10 | PMID 38684298
Fan Haizhen, Wang Yanmei, Wu Yunhong and 3 more
[Analysis of the results for genetic disease screening among 1 000 newborns from Huzhou].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2024-05-10 | PMID 38684299
Shen Guosong, Zou Lin, Li Wenwen and 4 more
[Phenotypic and genetic analysis of a Chinese pedigree affected with type 1 Otopalatodigital syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2024-05-10 | PMID 38684300
Zhang Bilin, Xiang Guangda, Xiang Shiqiang and 1 more