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 9011 of 10600

[Genetic variant analysis and prenatal diagnosis for Chinese pedigrees affected with cblC methylmalonic acidemia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-10-10 | PMID 36184083
Li Lei, Xia Yanjie, Hu Shuang and 4 more
[The phenotypes and genotypes of four patients with Dubin-Johnson syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-10-10 | PMID 36184084
Wu Qinghua, Ma Beibei, Yang Saisai and 6 more
[Analysis of three Chinese pedigrees affected with recurrent hydatidiform mole due to variants of NLRP7 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-10-10 | PMID 36184085
Shen Jiandong, Gao Yan, Wu Wei and 8 more
[Diagnosis of a Chinese pedigree affected with autosomal recessive deafness 4 with enlarged vestibular aqueduct due to compound heterozygous variants of FOXI1 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-10-10 | PMID 36184087
Li Jingjing, Kang Hongfei, Kong Xiangdong
[Genetic testing and prenatal diagnosis for a Chinese pedigree affected with mitochondrial DNA depletion syndrome due to variant of MPV17 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-10-10 | PMID 36184088
Zhao Ganye, Zhao Xiaoyan, Zhao Xuechao and 3 more
[Genetic diagnosis of a Chinese pedigree affected with Alazami syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-10-10 | PMID 36184089
He Fengjuan, Xu Shenjian, Li Qiwen and 2 more
[Analysis of genetic variant in a patient with juvenile meterochromic leukodystrophy].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-10-10 | PMID 36184090
Zhang Xiao, Li Miaomiao, Ma Jianhua and 5 more
[Clinical features and genetic analysis of a child with glycogen storage disease type VI].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-10-10 | PMID 36184091
Su Lisha, Zhu Chaofeng, Wu Jing and 1 more
[Clinical characteristics and genetic analysis of a child with autosomal recessive polycystic kidney disease].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-10-10 | PMID 36184092
Gao Shanshan, Li Qianqian, Dai Peng and 2 more
[Prenatal diagnosis and genetic analysis of a fetus with Cornelia de Lange syndrome type 1 due to a splicing variant of NIPBL gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-10-10 | PMID 36184093
Liang Lei, Wang Haixin, Cai Zeyu and 1 more
[Analysis of a child with X-linked mental retardation due to a de novo variant of DDX3X gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-10-10 | PMID 36184094
Wang Qiong, Yang Ying, Liu Lili and 4 more
[Genetic analysis of microcephaly-cortical blind syndrome due to compound heterozygous variants of DIAPH1 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-10-10 | PMID 36184095
Li Xiaobing, Lai Panjian, Cheng Kaichao and 1 more
[Genetic analysis of a patient with Papillorenal syndrome due to variant of PAX2 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-10-10 | PMID 36184096
Zhao Xuechao, Zheng Yuting, Liu Ning and 4 more
[Clinical characteristics and genetic analysis of a child with infantile Sandhoff disease and eosinophilia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-10-10 | PMID 36184097
Zhu Haixia, Wu Wenlin, Chen Wenxiong and 4 more
[Clinical analysis of a child with cardio-facio-cutaneous syndrome due to a de novo variant of MAP2K1 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-10-10 | PMID 36184098
Cao Hongyao, Tong Guanglei, Huang Ru and 2 more
[Analysis of a child with mucopolysaccharidoses type I due to compound heterozygous variants of IDUA gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-10-10 | PMID 36184100
Jia Haiting, Wang Chunhua, Liu Yi
[Analysis of an ABO subtype with a novel variation].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-10-10 | PMID 36184104
Wu Xinming, Ji Fangyuan, Huo Ni and 3 more
Familial Clustering and Genetic Analysis of Severe Thumb Carpometacarpal Joint Osteoarthritis in a Large Statewide Cohort.
The Journal of hand surgery | 2022-10-01 | PMID 36184273
Gavile Catherine M, Kazmers Nikolas H, Novak Kendra A and 6 more
A causal relationship between alcohol intake and type 2 diabetes mellitus: A two-sample Mendelian randomization study.
Nutrition, metabolism, and cardiovascular diseases : NMCD | 2022-12-01 | PMID 36184363
Liu Meiling, Park Sunmin
Molecular and Epidemiological Analysis of Respiratory Syncytial Virus Detected in Tokyo, Japan in 2021 Season.
Japanese journal of infectious diseases | 2023-01-24 | PMID 36184395
Kasuya Fumi, Mori Kohji, Harada Sachiko and 8 more
Whole Exome Sequencing Insufficient for a Definitive Diagnosis of a Patient with Compound Heterozygous Familial Hypercholesterolemia.
Internal medicine (Tokyo, Japan) | 2022-01-01 | PMID 36184534
Okada Hirofumi, Tada Hayato, Nomura Akihiro and 7 more
Why cancer incidence in the Arab counties is much lower than other parts of the world?
Journal of the Egyptian National Cancer Institute | 2022-10-03 | PMID 36184651
Arafa Mostafa A, Farhat Karim H
Molecular evidence of Monocercomonas and Acanthamoeba in the feces of captive reptiles.
Parasitology research | 2022-12-01 | PMID 36184660
Tuska-Szalay Barbara, Kelly Hannah, Takács Nóra and 3 more
Statins, Type 2 Diabetes, and Body Mass Index: A Univariable and Multivariable Mendelian Randomization Study.
The Journal of clinical endocrinology and metabolism | 2023-01-17 | PMID 36184662
Yang Guoyi, Schooling C Mary
An antibody cocktail with broadened mutational resistance and effective protection against SARS-CoV-2.
Science China. Life sciences | 2023-01-01 | PMID 36184693
Sun Chunyun, Chi Hang, Yuan Fei and 10 more
Age at Menarche Mediating Visceral Adipose Tissue's Influence on Pre-eclampsia: A Mendelian Randomization Study.
The Journal of clinical endocrinology and metabolism | 2023-01-17 | PMID 36184738
Deng Peizhi, Yu Qingwei, Tang Haibo and 2 more
Genetic basis of muscle-related traits in sheep: A review.
Animal genetics | 2022-12-01 | PMID 36184760
Talebi Reza, Ghaffari Mohammad Reza, Zeinalabedini Mehrshad and 2 more
Genomic profiling with whole-exome sequencing revealed distinct mutations and novel pathways in Asian melanoma.
The Journal of dermatology | 2022-12-01 | PMID 36184893
Chiu Yu-Jen, Weng Hui-Ying, Lin Yen-Yu and 6 more
Recent Transmission and Prevalent Characterization of the Beijing Family Mycobacterium tuberculosis in Jiangxi, China.
Polish journal of microbiology | 2022-09-01 | PMID 36185019
Luo Dong, Yu Shengming, Huang Yuyang and 4 more
Primary hyperoxaluria: Comprehensive mutation screening of the disease causing genes and spectrum of disease-associated pathogenic variants.
Clinical genetics | 2023-01-01 | PMID 36185032
Abid Aiysha, Raza Ali, Khan Abdul Rafay and 7 more
Osteoporosis and sarcopenia-related traits: A bi-directional Mendelian randomization study.
Frontiers in endocrinology | 2022-01-01 | PMID 36187130
Liu Chao, Liu Ningyuan, Xia Yu and 3 more
Genomic alterations predictive of poor clinical outcomes in pan-cancer.
Oncotarget | 2022-01-01 | PMID 36187555
Seldon Crystal S, Meiyappan Karthik, Hoffman Hannah and 6 more
Genetic Diversity, Carbapenem Resistance Genes, and Biofilm Formation in UPEC Isolated from Patients with Catheter-Associated Urinary Tract Infection in North of Iran.
International journal of clinical practice | 2022-01-01 | PMID 36187911
Nasrollahian Sina, Halaji Mehrdad, Hosseini Akramasadat and 5 more
GIST: Correlation of risk classifications and outcome.
Journal of medicine and life | 2022-08-01 | PMID 36188659
Kersting Sabine, Janot-Matuschek Monika Silvia, Schnitzler Carina and 3 more
Urinary tract infection in patients with diabetes mellitus and the role of parental genetics in the emergence of the disease.
Journal of medicine and life | 2022-08-01 | PMID 36188660
Al Qurabiy Heyam Emad, Abbas Ihab Majeed, Hammadi Aboo-Thar Ali and 3 more
Is Vitamin D Deficiency the Cause or the Effect of Systemic Lupus Erythematosus: Evidence from Bidirectional Mendelian Randomization Analysis.
Journal of immunology research | 2022-01-01 | PMID 36189146
Ding Yang, Yang Shengyi, Fan Shasha and 4 more
Blau syndrome NOD2 mutations result in loss of NOD2 cross-regulatory function.
Frontiers in immunology | 2022-01-01 | PMID 36189261
Mao Liming, Dhar Atika, Meng Guangxun and 6 more
Utilizing mast cells in a positive manner to overcome inflammatory and allergic diseases.
Frontiers in immunology | 2022-01-01 | PMID 36189267
Zhang Zhongwei, Ernst Peter B, Kiyono Hiroshi and 1 more
TMBcat: A multi-endpoint p-value criterion on different discrepancy metrics for superiorly inferring tumor mutation burden thresholds.
Frontiers in immunology | 2022-01-01 | PMID 36189291
Wang Yixuan, Lai Xin, Wang Jiayin and 7 more
Investigation of the association between the genetic polymorphisms of the co-stimulatory system and systemic lupus erythematosus.
Frontiers in immunology | 2022-01-01 | PMID 36189300
Chen Ding-Ping, Lin Wei-Tzu, Yu Kuang-Hui
Passive Immunotherapy Targeting Tau Oligomeric Strains Reverses Tauopathy Phenotypes in Aged Human-Tau Mice in a Mouse Model-Specific Manner.
Journal of Alzheimer's disease : JAD | 2022-01-01 | PMID 36189593
Bittar Alice, Al-Lahham Rabab, Bhatt Nemil and 7 more
The smallest dislocated microduplication of Xq27.1 harboring SOX3 gene associated with XX male phenotype.
Journal of pediatric endocrinology & metabolism : JPEM | 2023-01-27 | PMID 36189645
Oroz Maja, Vičić Ana, Požgaj Šepec Marija and 3 more
Per1 mutation enhances masking responses in mice.
Chronobiology international | 2022-11-01 | PMID 36189750
Milićević Nemanja, Bergen Arthur A, Felder-Schmittbuhl Marie-Paule
EURISCO update 2023: the European Search Catalogue for Plant Genetic Resources, a pillar for documentation of genebank material.
Nucleic acids research | 2023-01-06 | PMID 36189883
Kotni Pragna, van Hintum Theo, Maggioni Lorenzo and 2 more
Genetic Diversity, Antibiotic Resistance, and Pathogenicity of Aeromonas Species from Food Products in Shanghai, China.
Biomedical and environmental sciences : BES | 2022-09-20 | PMID 36189999
Qu Feng Tian, Wang Wen Qing, Liu Qian and 8 more
Evolution of Quorum Sensing in Pseudomonas aeruginosa Can Occur via Loss of Function and Regulon Modulation.
mSystems | 2022-10-26 | PMID 36190124
Jayakumar Priyanikha, Figueiredo Alexandre R T, Kümmerli Rolf
High frequency of CD8 escape mutations in elite controllers as new obstacle for HIV cure.
Virulence | 2022-12-01 | PMID 36190143
Navarrete-Muñoz María A, Ramos Ricardo, Holguín África and 4 more
Investigating anti-D in an individual with the weak D type 2 genotype.
Immunohematology | 2022-09-01 | PMID 36190200
Phou S, Nguyen N, Revilla J and 4 more
[Congenital neutropenia type IV: case report].
Archivos argentinos de pediatria | 2022-10-01 | PMID 36190223
Peruffo María V, Nainsztein Gabriela, Salvaneschi Quiña Verónica and 4 more
Drug Degradation Caused by mce3R Mutations Confers Contezolid (MRX-I) Resistance in Mycobacterium tuberculosis.
Antimicrobial agents and chemotherapy | 2022-10-18 | PMID 36190243
Pi Rui, Chen Xiaomin, Meng Jian and 5 more
Genetic and environmental factors influencing neonatal resting-state functional connectivity.
Cerebral cortex (New York, N.Y. : 1991) | 2023-04-04 | PMID 36190430
Blanchett Reid, Chen Yuanyuan, Aguate Fernando and 7 more
Ethnic, gender and other sociodemographic biases in genome-wide association studies for the most burdensome non-communicable diseases: 2005-2022.
Human molecular genetics | 2023-01-13 | PMID 36190496
Fitipaldi Hugo, Franks Paul W
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.
Human molecular genetics | 2023-03-06 | PMID 36190515
Arribas-Carreira Laura, Dallabona Cristina, Swanson Michael A and 28 more
P. Ala278Val mutation might cause a pathogenic defect in HEXB folding leading to the Sandhoff disease.
Metabolic brain disease | 2022-12-01 | PMID 36190588
Rahmani Zahra, Banisadr Arsham, Ghodsinezhad Vadieh and 2 more
A Novel RAC2 Mutation Causing Combined Immunodeficiency.
Journal of clinical immunology | 2023-01-01 | PMID 36190591
Zhang Liang, Lv Ge, Peng Yu and 7 more
Genetic diversity analysis of Eggplant Germplasm from Iran: assessments by morphological and SSR markers.
Molecular biology reports | 2022-12-01 | PMID 36190613
Fallahi Foroogh, Abdossi Vahid, Bagheri Mahmoud and 2 more
Preoperative Diagnosis of Dual-Phenotype Hepatocellular Carcinoma Using Enhanced MRI Radiomics Models.
Journal of magnetic resonance imaging : JMRI | 2023-04-01 | PMID 36190656
Wu Qian, Yu Yi-Xing, Zhang Tao and 4 more
A novel lineage of the Capra genus discovered in the Taurus Mountains of Turkey using ancient genomics.
eLife | 2022-10-03 | PMID 36190761
Daly Kevin G, Arbuckle Benjamin S, Rossi Conor and 8 more
Novel Causal Plasma Proteins for Hypothyroidism: A Large-scale Plasma Proteome Mendelian Randomization Analysis.
The Journal of clinical endocrinology and metabolism | 2023-01-17 | PMID 36190832
Yang Hongqun, Chen Lanlan, Liu Yahui
The Frailty Phenotype in Older Adults Undergoing Cochlear Implantation.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology | 2022-12-01 | PMID 36190900
Kay-Rivest Emily, Friedmann David R, McMenomey Sean O and 3 more
Clinical Impact of Genetic Diagnosis of Sensorineural Hearing Loss in Adults.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology | 2022-12-01 | PMID 36190904
Corriols-Noval Patricia, López Simón Eugenia Carmela, Cadiñanos Juan and 6 more
Targeting Tumor Hypoxia Inhibits Aggressive Phenotype of Dedifferentiated Thyroid Cancer.
The Journal of clinical endocrinology and metabolism | 2023-01-17 | PMID 36190930
Ma Ben, Wen Shishuai, Luo Yi and 7 more
Species-informative SNP markers for characterising freshwater prawns of genus Macrobrachium in Cameroon.
PloS one | 2022-01-01 | PMID 36190939
Makombu Judith G, Cheruiyot Evans K, Stomeo Francesca and 7 more
A Low-Frequency APOB p.(Pro955Ser) Variant Contributes to the Severity of/Variability in Familial Hypercholesterolemia.
The Journal of clinical endocrinology and metabolism | 2023-01-17 | PMID 36190978
Hori Mika, Takahashi Atsushi, Hosoda Kiminori and 2 more
Four common vitamin D receptor polymorphisms and coronary artery disease susceptibility: A trial sequential analysis.
PloS one | 2022-01-01 | PMID 36190985
Yan Xiaofei, Wei Yuzhen, Wang Dan and 4 more
Calcification traits for cryptic species identification: Insights into coralline biomineralization.
PloS one | 2022-01-01 | PMID 36190996
Basso Daniela, Piazza Giulia, Bracchi Valentina Alice
The introduction of mutations in the wild type coxsackievirus B3 (CVB3) IRES RNA leads to different levels of in vitro reduced replicative and translation efficiencies.
PloS one | 2022-01-01 | PMID 36190999
Gharbi Jawhar, Almalki Mohammed A, Ben M'hadheb Manel
A pals-25 gain-of-function allele triggers systemic resistance against natural pathogens of C. elegans.
PLoS genetics | 2022-10-01 | PMID 36191002
Gang Spencer S, Grover Manish, Reddy Kirthi C and 5 more
Enhanced ZNF521 expression induces an aggressive phenotype in human ovarian carcinoma cell lines.
PloS one | 2022-01-01 | PMID 36191006
Scicchitano Stefania, Montalcini Ylenia, Lucchino Valeria and 6 more
Investigating a possible causal relationship between maternal serum urate concentrations and offspring birthweight: a Mendelian randomization study.
International journal of epidemiology | 2023-02-08 | PMID 36191079
Decina Caitlin S, Hopkins Rhian, Bowden Jack and 6 more
Cooperation loci are more pleiotropic than private loci in the bacterium Pseudomonas aeruginosa.
Proceedings of the National Academy of Sciences of the United States of America | 2022-10-11 | PMID 36191234
Scott Trey J
Improving Time to Molecular Testing Results in Patients With Newly Diagnosed, Metastatic Non-Small-Cell Lung Cancer.
JCO oncology practice | 2022-11-01 | PMID 36191286
Ossowski Stephanie, Neeman Elad, Borden Charles and 7 more
Influence of Genetic Polymorphisms on the Pharmacokinetics of Trazodone Hydrochloride: A Scoping Review and Future Perspective.
Therapeutic drug monitoring | 2023-08-01 | PMID 36191287
Meulman Jessica, Visacri Marília Berlofa, Moriel Patricia and 1 more
Afatinib triggers a Ni2+ -resistant Ca2+ influx pathway in A549 non-small cell lung cancer cells.
Fundamental & clinical pharmacology | 2023-04-01 | PMID 36191338
Tsai Tien-Yao, Chen Cing-Yu, Shiao Lian-Ru and 4 more
Somatic mutation variant analysis in rural, resectable non-small cell lung carcinoma patients.
Cancer genetics | 2022-11-01 | PMID 36191390
Mitchem Jonathan B, Miller Amanda, Manjunath Yariswamy and 10 more
Modulation of FLT3-ITD and CDK9 in acute myeloid leukaemia cells by novel proteolysis targeting chimera (PROTAC).
European journal of medicinal chemistry | 2022-12-05 | PMID 36191408
Řezníčková Eva, Krajčovičová Soňa, Peřina Miroslav and 3 more
Identify novel, shared and disorder-specific genetic architecture of major depressive disorder, insomnia and chronic pain.
Journal of psychiatric research | 2022-11-01 | PMID 36191519
Zheng Haohao, Sun Jie, Pang Tao and 3 more
Generation and characterization of two iPSC lines carrying heterozygous or homozygous nonsense mutation in PROM1 gene from a single family.
Stem cell research | 2022-10-01 | PMID 36191543
Xu Ping, Guo Fuying, Xie Bingbing and 1 more
The Prognostic Utilities of DNA Mismatch Repair Status and KRAS and BRAF Mutation in Korean Colorectal Cancer Patients: The KASID Multicenter Study.
Oncology | 2023-01-01 | PMID 36191562
Kim Tae-Woo, Hwang Soon Woo, Kim Kyeong Ok and 3 more
Overview of the multifaceted resistances toward EGFR-TKIs and new chemotherapeutic strategies in non-small cell lung cancer.
Biochemical pharmacology | 2022-11-01 | PMID 36191627
Dzul Keflee Rashidi, Leong Kok Hoong, Ogawa Satoshi and 3 more
OsCPD1 and OsCPD2 are functional brassinosteroid biosynthesis genes in rice.
Plant science : an international journal of experimental plant biology | 2022-12-01 | PMID 36191635
Zhan Huadong, Lu Mingmin, Luo Qin and 4 more
Meta-GWAS identifies the heritability of acute radiation-induced toxicities in head and neck cancer.
Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology | 2022-11-01 | PMID 36191651
Naderi Elnaz, Schack Line M H, Welsh Ceilidh and 33 more
Development of label-free electrochemical impedance spectroscopy for the detection of HLA-B*15:02 and HLA-B*15:21 for the prevention of carbamazepine-induced Stevens-Johnson syndrome.
Analytical biochemistry | 2022-12-01 | PMID 36191668
Chomean Sirinart, Nakkam Nontaya, Tassaneeyakul Wichittra and 2 more
Genotypic correlates of resistance to the HIV-1 strand transfer integrase inhibitor cabotegravir.
Antiviral research | 2022-12-01 | PMID 36191692
Rhee Soo-Yon, Parkin Neil, Harrigan P Richard and 2 more
Soil salinity, not plant genotype or geographical distance, shapes soil microbial community of a reed wetland at a fine scale in the Yellow River Delta.
The Science of the total environment | 2023-01-15 | PMID 36191708
Liu Lele, Wu Yiming, Yin Meiqi and 6 more
Hedgehog pathway and its inhibitors in chronic obstructive pulmonary disease (COPD).
Pharmacology & therapeutics | 2022-12-01 | PMID 36191777
Lahmar Z, Ahmed E, Fort A and 3 more
A role of gut-microbiota-brain axis via subdiaphragmatic vagus nerve in depression-like phenotypes in Chrna7 knock-out mice.
Progress in neuro-psychopharmacology & biological psychiatry | 2023-01-10 | PMID 36191806
Yang Yong, Eguchi Akifumi, Wan Xiayun and 5 more
Characterization of the sex determining region of channel catfish (Ictalurus punctatus) and development of a sex-genotyping test.
Gene | 2023-01-20 | PMID 36191824
Wen Ming, Pan Qiaowei, Larson Wes and 2 more
Mediator subunit MED1 differentially modulates mutant thyroid hormone receptor intracellular dynamics in Resistance to Thyroid Hormone syndrome.
Molecular and cellular endocrinology | 2023-01-01 | PMID 36191835
Wang Moyao, Roggero Vincent R, Allison Lizabeth A
Assessing the Pathogenicity of In-Frame CACNA1F Indel Variants Using Structural Modeling.
The Journal of molecular diagnostics : JMD | 2022-12-01 | PMID 36191840
Sallah Shalaw R, Sergouniotis Panagiotis I, Hardcastle Claire and 5 more
Age-Related Clinical Characteristics, Inflammatory Features, Phenotypes, and Treatment Response in Asthma.
The journal of allergy and clinical immunology. In practice | 2023-01-01 | PMID 36191867
Wang Ji, Zhang Xin, Zhang Li and 13 more
Glucose-6-phosphate Dehydrogenase (G6PD) A-Variant Frequency and Novel Polymorphism in Haiti.
The American journal of tropical medicine and hygiene | 2022-11-14 | PMID 36191877
Vincent Jeanne P, Existe Alexandre V, Komaki-Yasuda Kanako and 2 more
Retrospective Analysis of Treatment Pathways in Patients With BRAFV600E-mutant Metastatic Colorectal Carcinoma - MORSECRC.
Anticancer research | 2022-10-01 | PMID 36191968
Gerger Armin, Eisterer Wolfgang, Fuxius Stefan and 15 more
Prognostic Significance of Clinical Factors Including BRCA Mutation in Epithelial Ovarian, Peritoneal, Fallopian Tube Cancer.
Anticancer research | 2022-10-01 | PMID 36191979
Kim Ji Young, Park Haeil, Lee Dae Woo and 4 more
The Phenotypic Continuum of ATP1A3-Related Disorders.
Neurology | 2022-10-04 | PMID 36192182
Vezyroglou Aikaterini, Akilapa Rhoda, Barwick Katy and 26 more
Having an eye for myotonic dystrophy: A qualitative study on experiences and support needs in myotonic dystrophy type 1 patients with a diagnostic delay after early-onset cataract.
Neuromuscular disorders : NMD | 2022-10-01 | PMID 36192279
Karnebeek I E A, Boon H T M, Huis A M P and 7 more
Multidimensional analysis of behavior predicts genotype with high accuracy in a mouse model of Angelman syndrome.
Translational psychiatry | 2022-10-03 | PMID 36192373
Tanas Joseph K, Kerr Devante D, Wang Li and 4 more
Peripheral level of CD33 and Alzheimer's disease: a bidirectional two-sample Mendelian randomization study.
Translational psychiatry | 2022-10-03 | PMID 36192375
Gu Xiaojing, Dou Meng, Cao Bei and 2 more
Chemical engineering of therapeutic siRNAs for allele-specific gene silencing in Huntington's disease models.
Nature communications | 2022-10-03 | PMID 36192390
Conroy Faith, Miller Rachael, Alterman Julia F and 14 more
HOXA9 has the hallmarks of a biological switch with implications in blood cancers.
Nature communications | 2022-10-03 | PMID 36192425
Talarmain Laure, Clarke Matthew A, Shorthouse David and 4 more