Plasma Concentrations of Calcium and Risk of Alzheimer Disease-Observational and Genetic Studies.
Clinical chemistry | 2023-04-28 | PMID 36950916
Thomassen Jesper Qvist, Nordestgaard Børge G, Tybjærg-Hansen Anne and 1 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 9139 of 10600
Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee.
Korean journal of ophthalmology : KJO | 2023-04-01 | PMID 36950921
Han Jinu, Joo Kwangsic, Kim Ungsoo Samuel and 6 more
A novel optinEuRin stress connection in glaucoma.
The FEBS journal | 2023-06-01 | PMID 36950994
Lafont Elodie, Avril Tony
Unexpected phenotypic and molecular changes of combined glucocerebrosidase and acid sphingomyelinase deficiency.
Disease models & mechanisms | 2023-06-01 | PMID 36951087
Keatinge Marcus, Gegg Matthew E, Watson Lisa and 10 more
Age estimation based on blood DNA methylation levels in brown bears.
Molecular ecology resources | 2023-08-01 | PMID 36951099
Nakamura Shiori, Yamazaki Jumpei, Matsumoto Naoya and 9 more
Identifying prognostic gene panels in acute myeloid leukemia.
Expert review of hematology | 2023-04-01 | PMID 36951195
Sanchez-Garcia Joaquin, Serrano Josefina, Prados de La Torre Esther and 4 more
TDP-43 pathology and functional deficits in wild-type and ALS/FTD mutant cyclin F mouse models.
Neuropathology and applied neurobiology | 2023-04-01 | PMID 36951214
van Hummel Annika, Sabale Miheer, Przybyla Magdalena and 6 more
Current allele distribution of the human longevity gene APOE in Europe can mainly be explained by ancient admixture.
Aging cell | 2023-05-01 | PMID 36951219
Kolbe Daniel, da Silva Nicolas A, Dose Janina and 4 more
Genetic associations with age at dementia onset in the PSEN1 E280A Colombian kindred.
Alzheimer's & dementia : the journal of the Alzheimer's Association | 2023-09-01 | PMID 36951251
Cochran Jesse Nicholas, Acosta-Uribe Juliana, Esposito Bianca T and 27 more
Antivinculin Antibodies in Systemic Sclerosis: Associations With Slow Gastric Transit and Extraintestinal Clinical Phenotype.
Arthritis care & research | 2023-10-01 | PMID 36951252
Herrán María, Adler Brittany L, Perin Jamie and 3 more
Impact of NOTCH1 polymorphisms on liver cancer in a Chinese Han population.
Cell cycle (Georgetown, Tex.) | 2023-05-01 | PMID 36951273
Wang Baofeng, Ma Xiaobin, Zhang Wenjie and 6 more
Causal associations and shared genetics between hypertension and COVID-19.
Journal of medical virology | 2023-04-01 | PMID 36951353
Baranova Ancha, Cao Hongbao, Zhang Fuquan
Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta.
Journal of dental research | 2023-06-01 | PMID 36951356
Yamaguti P M, de La Dure-Molla M, Monnot S and 18 more
Structural and functional characterization of novel F7 mutations identified in Chinese factor VII-deficient patients.
British journal of haematology | 2023-08-01 | PMID 36951360
Lou Can, Jiang Jiali, Chen Weizhi and 10 more
The novel HLA-DPB1*05:01:18 allele, identified by Sanger dideoxy nucleotide sequencing in a Chinese individual.
HLA | 2023-07-01 | PMID 36951489
Hu Peng, Zheng Zhong-Zheng, Du Ke-Ming and 2 more
UBQLN2 restrains the domesticated retrotransposon PEG10 to maintain neuronal health in ALS.
eLife | 2023-03-23 | PMID 36951542
Black Holly H, Hanson Jessica L, Roberts Julia E and 9 more
Next-generation sequencing identifies two novel HLA-DRB1 alleles, HLA-DRB1*04:362 and HLA-DRB1*07:148.
HLA | 2023-07-01 | PMID 36951586
Loginova Maria, Repnicyna Kristina, Paramonov Igor
Characterization of the novel HLA-DRB1 allele, HLA-DRB1*04:328 in a Chinese individual.
HLA | 2023-07-01 | PMID 36951607
Zhang Jingjing, Chen Nanying, Chen Chen and 2 more
Next-generation sequencing reveals a novel HLA-C allele, HLA-C*15:255.
HLA | 2023-07-01 | PMID 36951618
Rakhmanov Mirzokhid, Bernheiden Martin, Verboom Murielle and 1 more
Genomic sequence of the HLA-B*13:177, HLA-C*06:02:104, and HLA-C*07:1062N alleles identified in bone marrow donors.
HLA | 2023-07-01 | PMID 36951653
Loginova Maria, Smirnova Daria, Paramonov Igor
Identification of the novel HLA-C*01:02:86 allele in a Chinese individual.
HLA | 2023-07-01 | PMID 36951755
Shi Xiu-Min, Li Pei-Tong, Hu Rui-Ping and 2 more
Identification of the HLA-B*40:01:02:59 and -C*05:01:73 alleles in individuals from the northern regions of India.
HLA | 2023-07-01 | PMID 36951758
Rajak Jyoti, Pinto Andrea S, D'Silva Selma Z and 1 more
Pituitary tumours: molecular and genetic aspects.
The Journal of endocrinology | 2023-06-01 | PMID 36951812
De Sousa Sunita M C, Lenders Nèle F, Lamb Lydia S and 2 more
Association Study of Transforming Growth Factor Beta 1 + 29 T/C exon 1 Polymorphism in Breast Cancer Patients from North Indian Population.
Applied biochemistry and biotechnology | 2023-06-01 | PMID 36951937
Pal Ranjana, Dutta Siddhartha
Natural disease history of a canine model of oligogenic RPGRIP1-cone-rod dystrophy establishes variable effects of previously and newly mapped modifier loci.
Human molecular genetics | 2023-06-19 | PMID 36951959
Ripolles-Garcia Ana, Murgiano Leonardo, Ziolkowska Natalia and 5 more
Morphological and behavioral analysis of Slc35f1-deficient mice revealed no neurodevelopmental phenotype.
Brain structure & function | 2023-05-01 | PMID 36951990
Ehlers Julia Sophie, Bracke Katharina, von Bohlen Und Halbach Viola and 3 more
Toward combining qualitative race-specific and quantitative race-nonspecific disease resistance by genomic selection.
TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik | 2023-03-23 | PMID 36952008
Michel Sebastian, Löschenberger Franziska, Ametz Christian and 1 more
Updated guidelines for gene nomenclature in wheat.
TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik | 2023-03-23 | PMID 36952017
Boden S A, McIntosh R A, Uauy C and 25 more
Identification of a stable major sucrose-related QTL and diagnostic marker for flavor improvement in peanut.
TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik | 2023-03-23 | PMID 36952020
Li Weitao, Huang Li, Liu Nian and 12 more
A 5.5-kb LTR-retrotransposon insertion inside phytochrome B gene (CsPHYB) results in long hypocotyl and early flowering in cucumber (Cucumis sativus L.).
TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik | 2023-03-23 | PMID 36952021
Hu Liangliang, Zhang Miaomiao, Shang Jingjing and 5 more
Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?
Human genetics | 2024-04-01 | PMID 36952035
Harris Jacqueline R, Gao Christine W, Britton Jacquelyn F and 3 more
Structural variation of GL1 gene determines the trichome formation in Brassica juncea.
TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik | 2023-03-23 | PMID 36952042
Meng Yiqing, Lyu Xiagolong, Liu Jiaqi and 8 more
Introgression and targeting of the Pl37 and Pl38 genes for downy mildew resistance from wild Helianthus annuus and H. praecox into cultivated sunflower (Helianthus annuus L.).
TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik | 2023-03-23 | PMID 36952051
Qi L L, Talukder Z I, Ma G J and 1 more
Exploring haplotype block structure, runs of homozygosity, and effective population size among dairy cattle breeds of India.
Tropical animal health and production | 2023-03-23 | PMID 36952060
Dash Soumya, Singh Avtar, Dixit S P and 2 more
Identification and validation of quantitative trait loci for fertile spikelet number per spike and grain number per fertile spikelet in bread wheat (Triticum aestivum L.).
TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik | 2023-03-23 | PMID 36952062
Jiang Cheng, Xu Zhibin, Fan Xiaoli and 8 more
Complete Loss of Myelin protein zero (MPZ) in a patient with a late onset Charcot-Marie-Tooth (CMT).
Metabolic brain disease | 2023-08-01 | PMID 36952089
Gharesouran Jalal, Hosseinzadeh Hassan, Naghiloo Ali and 5 more
The effect of cycles of genomic selection on the wheat (T. aestivum) genome.
TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik | 2023-03-23 | PMID 36952091
Arguello-Blanco M N, Sneller Clay H
Cost-effective genotyping for classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) in resource-poor settings: multiplex ligation probe amplification (MLPA) with/without sequential next-generation sequencing (NGS).
Hormones (Athens, Greece) | 2023-06-01 | PMID 36952211
Monteiro Ana, Pavithran Praveen V, Puthukulangara Manuprasad and 4 more
Life course effects of genetic susceptibility to higher body size on body fat and lean mass: prospective cohort study.
International journal of epidemiology | 2023-10-05 | PMID 36952292
Waterfield Scott, Richardson Tom G, Davey Smith George and 2 more
Differentiating Inhibition Selectivity and Binding Affinity of Isocitrate Dehydrogenase 1 Variant Inhibitors.
Journal of medicinal chemistry | 2023-04-13 | PMID 36952395
Liu Shuang, Abboud Martine, Mikhailov Victor and 3 more
Genes: IDH1
The evolution of white-tailed jackrabbit camouflage in response to past and future seasonal climates.
Science (New York, N.Y.) | 2023-03-24 | PMID 36952420
Ferreira Mafalda S, Thurman Timothy J, Jones Matthew R and 8 more
Exploring the growth trait molecular markers in two sheep breeds based on Genome-wide association analysis.
PloS one | 2023-01-01 | PMID 36952432
Tuersuntuoheti Mirenisa, Zhang Jihu, Zhou Wen and 4 more
Contributions of ARID5B, IKZF1, PIP4K2A, and GATA3 Gene Polymorphisms to Childhood Acute Lymphoblastic Leukemia in a Chinese Population.
Journal of pediatric hematology/oncology | 2023-04-01 | PMID 36952466
Liu Xiaorong, Xiao Min, Xing Zhihao and 7 more
A highly efficient and accurate method of detecting and subtyping Influenza A pdm H1N1 and H3N2 viruses with newly emerging mutations in the matrix gene in Eastern Taiwan.
PloS one | 2023-01-01 | PMID 36952488
Yang Hui-Hua, Huang I-Tsong, Wu Ren-Chieh and 1 more
Cross-sectional study to describe allergic rhinitis flare-ups and associated airways phenotype in house dust mite sensitization.
PloS one | 2023-01-01 | PMID 36952530
de Gabory Ludovic, Amet Sabine, Le Maux Annelore and 3 more
Multigene typing of Giardia Duodenalis isolated from tuberculosis and non-tuberculosis subjects.
PloS one | 2023-01-01 | PMID 36952535
Mohammad Rahimi Hanieh, Javanmard Ehsan, Taghipour Ali and 2 more
Using targeted sequencing and TaqMan approaches to detect acaricide (bifenthrin, bifenazate, and etoxazole) resistance associated SNPs in Tetranychus urticae collected from peppermint fields and hop yards.
PloS one | 2023-01-01 | PMID 36952542
Shumate Silas, Haylett Maggie, Nelson Brenda and 5 more
TERT Immunohistochemistry as a Surrogate Marker for TERT Promoter Mutations in Infiltrating Gliomas.
Applied immunohistochemistry & molecular morphology : AIMM | 2000-01-01 | PMID 36952585
Dono Antonio, Moosvi Ali M, Goli Puneetha S and 4 more
Polygenic Pharmacogenomic Markers as Predictors of Toxicity Phenotypes in the Treatment of Acute Lymphoblastic Leukemia: A Single-Center Study.
JCO precision oncology | 2023-03-01 | PMID 36952646
Larkin Trisha, Kashif Reema, Elsayed Abdelrahman H and 7 more
Experimental Evidence That Phenotypic Evolution but Not Plasticity Occurs along Genetic Lines of Least Resistance in Homogeneous Environments.
The American naturalist | 2023-04-01 | PMID 36957997
Walter Greg M
Eco-Evolutionary Consequences of Dispersal Syndromes during Colonization in a Passerine Bird.
The American naturalist | 2023-04-01 | PMID 36958003
Nicolaus Marion, Ubels Richard, Both Christiaan
The Difficulty of Predicting Evolutionary Change in Response to Novel Ecological Interactions: A Field Experiment with Anolis Lizards.
The American naturalist | 2023-04-01 | PMID 36958004
Thurman Timothy J, Palmer Todd M, Kolbe Jason J and 12 more
A Theoretical Framework for Trait-Based Eco-Evolutionary Dynamics: Population Structure, Intraspecific Variation, and Community Assembly.
The American naturalist | 2023-04-01 | PMID 36958005
Wickman Jonas, Koffel Thomas, Klausmeier Christopher A
Emergence of Ancylostoma caninum parasites with the benzimidazole resistance F167Y polymorphism in the US dog population.
International journal for parasitology. Drugs and drug resistance | 2023-04-01 | PMID 36958067
Leutenegger Christian M, Lozoya Cecilia E, Tereski Jeffrey and 3 more
Novel WFS1 mutations in patients with low-to-middle frequency hearing loss.
International journal of pediatric otorhinolaryngology | 2023-04-01 | PMID 36958120
Guo Luo, Gu Xiaodong, Sun Qin and 3 more
Landscape of chromatin remodeling gene alterations in endometrial carcinoma.
Gynecologic oncology | 2023-05-01 | PMID 36958196
Momeni-Boroujeni Amir, Vanderbilt Chad, Yousefi Elham and 6 more
CESSAT: A chemical additive-enhanced single-step accurate CRISPR/Cas13 testing system for field-deployable ultrasensitive detection and genotyping of SARS-CoV-2 variants of concern.
Biosensors & bioelectronics | 2023-06-01 | PMID 36958206
Wang Yunxiang, Chen Hong, Gao Huixia and 7 more
Generation of human induced pluripotent stem cell line (BCRTi006-A) from a patient with focal segmental glomerulosclerosis disease.
Stem cell research | 2023-06-01 | PMID 36958215
Batool Lilas, Raab Constanze, Beez Christien Madlen and 4 more
Prediction of IDH mutation status of glioma based on terahertz spectral data.
Spectrochimica acta. Part A, Molecular and biomolecular spectroscopy | 2023-07-05 | PMID 36958244
Sun Zhiyan, Wu Xianhao, Tao Rui and 8 more
Narcolepsy is associated with an increased risk of HLA-related autoimmune diseases: Evidence from a nationwide healthcare system data in South Korea.
Sleep medicine | 2023-05-01 | PMID 36958254
Oh Jihye, Cho Eunhae, Um Yoo-Hyun and 2 more
Genomic analyses of hair from Ludwig van Beethoven.
Current biology : CB | 2023-04-24 | PMID 36958333
Begg Tristan James Alexander, Schmidt Axel, Kocher Arthur and 30 more
Pathogenic Mis-splicing of CPEB4 in Schizophrenia.
Biological psychiatry | 2023-08-15 | PMID 36958377
Ollà Ivana, Pardiñas Antonio F, Parras Alberto and 15 more
Detection of rare genetic variations in the promoter regions of the ATG16L gene in Parkinson's patients.
Neuroscience letters | 2023-05-01 | PMID 36958426
Gómez-Martín A, Fuentes José M, Jordán J and 2 more
Integration of Mendelian randomisation and systems biology models to identify novel blood-based biomarkers for stroke.
Journal of biomedical informatics | 2023-05-01 | PMID 36958462
Islam Tania, Rahman Md Rezanur, Khan Asaduzzaman and 1 more
The intramembrane COOH-terminal domain of PRRT2 regulates voltage-dependent Na+ channels.
The Journal of biological chemistry | 2023-05-01 | PMID 36958475
Franchi Francesca, Marte Antonella, Corradi Beatrice and 10 more
Addition of the T5 exonuclease increases the prime editing efficiency in plants.
Journal of genetics and genomics = Yi chuan xue bao | 2023-08-01 | PMID 36958601
Liang Zhen, Wu Yuqing, Guo Yingjie and 1 more
High-content analysis of testicular toxicity of BPA and its selected analogs in mouse spermatogonial, Sertoli cells, and Leydig cells revealed BPAF induced unique multinucleation phenotype associated with the increased DNA synthesis.
Toxicology in vitro : an international journal published in association with BIBRA | 2023-06-01 | PMID 36958674
Yin Lei, Hu Chelin, Yu Xiaozhong John
Poziotinib in Treatment-Naive NSCLC Harboring HER2 Exon 20 Mutations: ZENITH20-4, A Multicenter, Multicohort, Open-Label, Phase 2 Trial (Cohort 4).
Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer | 2023-08-01 | PMID 36958688
Cornelissen Robin, Prelaj Arsela, Sun Sophie and 13 more
Histone Deacetylase 6 Inhibition Exploits Selective Metabolic Vulnerabilities in LKB1 Mutant, KRAS Driven NSCLC.
Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer | 2023-07-01 | PMID 36958689
Zhang Hua, Nabel Christopher S, Li Dezhi and 29 more
Clinical Profiles and Patterns of Neurodegeneration in Amyotrophic Lateral Sclerosis: A Cluster-Based Approach Based on MR Imaging Metrics.
AJNR. American journal of neuroradiology | 2023-04-01 | PMID 36958798
Milella G, Introna A, Mezzapesa D M and 5 more
Associations between MICA and MICB Genetic Variants, Protein Levels, and Colorectal Cancer: Atherosclerosis Risk in Communities (ARIC).
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology | 2023-06-01 | PMID 36958849
Wang Shuo, Onyeaghala Guillaume C, Pankratz Nathan and 11 more
Genes: MICA, MICB, IMPACT
Compensatory mutations reducing the fitness cost of plasmid carriage occur in plant rhizosphere communities.
FEMS microbiology ecology | 2023-03-23 | PMID 36958858
Bird Susannah M, Ford Samuel, Thompson Catriona M A and 6 more
Modeling human mutations to understand TRIO GEF function during development.
Trends in neurosciences | 2023-06-01 | PMID 36959051
Fingleton Erin, Roche Katherine W
Innovative treatments for meningiomas.
Revue neurologique | 2023-06-01 | PMID 36959063
Graillon T, Tabouret E, Salgues B and 9 more
Changes in the Long Noncoding RNA Expression Profile in the Development of the Embryonic External Ear After BMP5 Gene Mutation.
The Journal of craniofacial surgery | 2000-01-01 | PMID 36959163
Liu Wei, Jin Shengyang, Lin Lin and 2 more
Diffusion Basis Spectrum Imaging Identifies Clinically Relevant Disease Phenotypes of Cervical Spondylotic Myelopathy.
Clinical spine surgery | 2023-04-01 | PMID 36959182
Zhang Justin K, Javeed Saad, Greenberg Jacob K and 3 more
FTD-tau S320F mutation stabilizes local structure and allosterically promotes amyloid motif-dependent aggregation.
Nature communications | 2023-03-23 | PMID 36959205
Chen Dailu, Bali Sofia, Singh Ruhar and 9 more
Circulating tumor DNA in molecular assessment feasibly predicts early progression of pancreatic cancer that cannot be identified via initial imaging.
Scientific reports | 2023-03-23 | PMID 36959222
Watanabe Fumiaki, Suzuki Koichi, Aizawa Hidetoshi and 6 more
Cue: a deep-learning framework for structural variant discovery and genotyping.
Nature methods | 2023-04-01 | PMID 36959322
Popic Victoria, Rohlicek Chris, Cunial Fabio and 4 more
Adjusting for common variant polygenic scores improves yield in rare variant association analyses.
Nature genetics | 2023-04-01 | PMID 36959364
Jurgens Sean J, Pirruccello James P, Choi Seung Hoan and 5 more
Artificial-intelligence-based molecular classification of diffuse gliomas using rapid, label-free optical imaging.
Nature medicine | 2023-04-01 | PMID 36959422
Hollon Todd, Jiang Cheng, Chowdury Asadur and 22 more
Analyses of Mutation Displacements from Homology Models.
Methods in molecular biology (Clifton, N.J.) | 2023-01-01 | PMID 36959449
Carpentier Mathilde, Chomilier Jacques
Multicenter retrospective analysis of clinical outcome of adult patients with mixed-phenotype acute leukemia treated with acute myeloid leukemia-like or acute lymphoblastic leukemia-like chemotherapy and impact of allogeneic stem cell transplantation: a Campus ALL study.
Annals of hematology | 2023-05-01 | PMID 36959485
Lazzarotto Davide, Tanasi Ilaria, Vitale Antonella and 19 more
Mammal-related Cryptosporidium infections in endemic reptiles of New Zealand.
Parasitology research | 2023-05-01 | PMID 36959486
Garcia-R Juan C, Pita Anthony B, Velathanthiri Niluka and 2 more
Predicting miRNA-disease associations based on PPMI and attention network.
BMC bioinformatics | 2023-03-23 | PMID 36959547
Xie Xuping, Wang Yan, He Kai and 1 more
A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family.
BMC ophthalmology | 2023-03-23 | PMID 36959549
Aziz Nobia, Ullah Mukhtar, Rashid Abdur and 6 more
Genome-wide mapping of signatures of selection using a high-density array identified candidate genes for growth traits and local adaptation in chickens.
Genetics, selection, evolution : GSE | 2023-03-23 | PMID 36959552
Mastrangelo Salvatore, Ben-Jemaa Slim, Perini Francesco and 5 more
Receptor tyrosine kinase C-kit promotes a destructive phenotype of FLS in osteoarthritis via intracellular EMT signaling.
Molecular medicine (Cambridge, Mass.) | 2023-03-23 | PMID 36959556
Cao Xu, Wu Song, Wang Xinxing and 3 more
Influence of clusterin genetic variants on IOP elevation in pseudoexfoliation syndrome and pseudoexfoliative glaucoma in Turkish population.
BMC ophthalmology | 2023-03-23 | PMID 36959561
Demirdöğen Birsen Can, Demirkaya-Budak Sinem
The Glioma-IRE project - Molecular profiling in patients with glioma: steps toward an individualized diagnostic and therapeutic approach.
Journal of translational medicine | 2023-03-23 | PMID 36959606
Villani Veronica, Casini Beatrice, Tanzilli Antonio and 12 more
DNA methylation patterns at birth predict health outcomes in young adults born very low birthweight.
Clinical epigenetics | 2023-03-23 | PMID 36959629
Cameron Vicky A, Jones Gregory T, Horwood L John and 10 more
The clinicopathologic significance of NPM1 mutation and ability to detect mutated NPM1 by immunohistochemistry in non-AML myeloid neoplasms.
Genes, chromosomes & cancer | 2023-10-01 | PMID 36959701
Kaseb Hatem, Visconte Valeria, Socha Daniel S and 6 more
Causal association between asthma and periodontitis: A two-sample Mendelian randomization analysis.
Oral diseases | 2024-04-01 | PMID 36959704
Jiao Ruofeng, Li Wei, Song Jukun and 1 more
Multiple Perianal Epidermal Cysts Found in a Case of Lowe Syndrome: A Case Report and Review of the Literature.
The American journal of case reports | 2023-03-24 | PMID 36959724
Goodman Corban P, Park Hyunsoo, Mladenov Georgi D and 4 more
Decarboxylation and Protonation Enigma in the H85Q Mutant of Cytochrome P450OleT.
The journal of physical chemistry. B | 2023-04-06 | PMID 36959730
Yadav Shalini, Shaik Sason, Dubey Kshatresh Dutta
CARD11 gain-of-function mutation drives cell-autonomous accumulation of PD-1+ ICOShigh activated T cells, T-follicular, T-regulatory and T-follicular regulatory cells.
Frontiers in immunology | 2023-01-01 | PMID 36960072
Masle-Farquhar Etienne, Jeelall Yogesh, White Jacqueline and 5 more
A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family.
Frontiers in endocrinology | 2023-01-01 | PMID 36960394
Ahmad Safeer, Ali Muhammad Zeeshan, Abbasi Sumra Wajid and 9 more
Pediatric Nemaline Myopathy: A Systematic Review Using Individual Patient Data.
Journal of child neurology | 2022-06-01 | PMID 36960434
Christophers Briana, Lopez Michael A, Gupta Vandana A and 2 more
Patients with MMAF induced by novel biallelic CFAP43 mutations have good fertility outcomes after intracytoplasmic sperm injection.
Asian journal of andrology | 2023-09-01 | PMID 36960497
Ma Jing, Long Shun-Hua, Yu Hai-Bing and 8 more
Prevalence of CYP2C9 and CYP2C19 variants and the impact on clopidogrel efficacy in patients having CYPC19*2 variant.
Indian journal of pharmacology | 2000-01-01 | PMID 36960518
Mehta Meha P, Gajjar Normi D, Patel Rutvi J and 2 more