Evidence for metabolite composition underlying consumer preference in Sub-Saharan African Musa spp.
Food chemistry | 2024-03-01 | PMID 37774620
Drapal Margit, Amah Delphine, Uwimana Brigitte and 3 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 9279 of 10600
Reduced synthesis of phospho-polysaccharide in Lactococcus as a strategy to evade phage infection.
International journal of food microbiology | 2023-12-16 | PMID 37774633
Giesbers Conradus A P, Fagan Jack, Parlindungan Elvina and 8 more
Loss of p53 and mutational heterogeneity drives immune resistance in an autochthonous mouse lung cancer model with high tumor mutational burden.
Cancer cell | 2023-10-09 | PMID 37774698
Zhu Mingrui, Kim Jiwoong, Deng Qing and 14 more
Creating an HLA-homozygous iPS cell bank for the Brazilian population: Challenges and opportunities.
Stem cell reports | 2023-10-10 | PMID 37774702
Martins de Oliveira Marcio Lassance, Tura Bernardo Rangel, Meira Leite Mauro and 4 more
Multidrug resistance phenotype and its relation to stem cell characteristics in chronic myeloid leukemia.
Gene | 2024-01-20 | PMID 37774806
Lettnin Aline Portantiolo, Wagner Eduardo Felipe, Salgado Mariana Teixeira Santos Figueiredo and 4 more
Comprehensive genetic analysis reveals the mutational landscape of ABCA4-associated retinal dystrophy in a Chinese cohort.
Gene | 2024-01-15 | PMID 37774808
Tian Lu, Chen Chun-Jie, Song Yu-Ning and 6 more
KZ02 enhances the radiosensitivity of BRAF-mutated CRC in vitro and in vivo.
European journal of pharmacology | 2023-11-15 | PMID 37775019
Guo Yuying, Li Xuejiao, Yuan Renbin and 4 more
Comparative Study of the Mutations Observed in the SARS-CoV-2 RBD Variants of Concern and Their Impact on the Interaction with the ACE2 Protein.
The journal of physical chemistry. B | 2023-10-12 | PMID 37775095
Ghoula Mariem, Deyawe Kongmeneck Audrey, Eid Rita and 2 more
The landscape of MHC-presented phosphopeptides yields actionable shared tumor antigens for cancer immunotherapy across multiple HLA alleles.
Journal for immunotherapy of cancer | 2023-09-01 | PMID 37775115
Molvi Zaki, Klatt Martin G, Dao Tao and 3 more
Carriers of autosomal recessive conditions: are they really 'unaffected?'
Journal of medical genetics | 2023-12-21 | PMID 37775265
Hames Amber, Khan Sophia, Gilliland Clara and 4 more
The Effects of Drug Exposure and Single Nucleotide Polymorphisms on Aaptinib-Induced Severe Toxicities in Solid Tumors.
Drug metabolism and disposition: the biological fate of chemicals | 2023-12-01 | PMID 37775332
Chen Youhao, Lin Yaobin, Guan Shaoxing and 18 more
Autosomal dominant distal renal tubular acidosis in two pediatric patients with mutations in the SLC4A1 gene. Can the maximum urinary pCO2 test be normal?
Nefrologia | 2000-01-01 | PMID 37775346
Guerra Hernández Norma E, Gómez Tenorio Circe, Méndez Silva Laura Paloma and 5 more
Plant subindividual functional diversity and carbon cycling.
Trends in plant science | 2023-12-01 | PMID 37775453
Sobral Mar
Vitamin C intake and colorectal cancer survival according to KRAS and BRAF mutation: a prospective study in two US cohorts.
British journal of cancer | 2023-11-01 | PMID 37775523
Shi Shanshan, Wang Kai, Ugai Tomotaka and 8 more
Genes: BRAF, KRAS, SLC2A1
Epithelial-to-mesenchymal transition in cancer progression: unraveling the immunosuppressive module driving therapy resistance.
Cancer metastasis reviews | 2024-03-01 | PMID 37775641
Singh Deepti, Siddique Hifzur R
A phase 1 trial of fuzuloparib in combination with apatinib for advanced ovarian and triple-negative breast cancer: efficacy, safety, pharmacokinetics and germline BRCA mutation analysis.
BMC medicine | 2023-09-29 | PMID 37775744
Liu Yaxin, Wang Wei, Yin Rutie and 15 more
Integrating plasma proteomes with genome-wide association data for causal protein identification in multiple myeloma.
BMC medicine | 2023-09-29 | PMID 37775746
Wang Qiangsheng, Shi Qiqin, Wang Zhenqian and 2 more
Contrasting genetic and morphological differentiation among geographical lineages of a stenotopic miniature rasborine, Boraras maculatus, in Peninsular Malaysia.
Journal of fish biology | 2024-01-01 | PMID 37775959
Fam Yi Qing, Jamaluddin Jamsari Amirul Firdaus, Muhammad-Rasul Abdullah Halim and 3 more
Population pharmacokinetic-pharmacodynamic modeling of clopidogrel for dose regimen optimization based on CYP2C19 phenotypes: A proof of concept study.
CPT: pharmacometrics & systems pharmacology | 2024-01-01 | PMID 37775990
Jung Yun Seob, Jin Byung Hak, Park Min Soo and 2 more
Stratification of patients with KRAS-mutated advanced non-small cell lung cancer: improving prognostics.
Expert review of respiratory medicine | 2000-01-01 | PMID 37776047
Zhang Yuda, Zeng Fanxu, Peng Shixuan and 13 more
Three new HLA class II alleles detected in Bashkir individuals.
HLA | 2024-01-01 | PMID 37776063
Loginova Maria, Repnicyna Kristina, Obukhov Ivan and 1 more
Unrepresented human leucocyte antigen alleles in single-antigen bead assays: A single-centre cohort study.
International journal of immunogenetics | 2023-12-01 | PMID 37776087
Ho Quan Yao, Phang Chew Yen, Liew Ian Tatt and 5 more
Evolutionary rescue under demographic and environmental stochasticity.
Journal of evolutionary biology | 2023-10-01 | PMID 37776088
Xu Kuangyi, Vision Todd J, Servedio Maria R
Relationship Between Time-Varying Achieved High-Density Lipoprotein Cholesterol and Risk of Coronary Events Depends on Haptoglobin Phenotype Within the ACCORD Lipid Study.
Journal of the American Heart Association | 2023-10-03 | PMID 37776200
Warren Rachel A, Carew Allie S, Andreou Pantelis and 8 more
Primary cilia are critical for tracheoesophageal septation.
Developmental dynamics : an official publication of the American Association of Anatomists | 2024-03-01 | PMID 37776236
Fitzsimons Lindsey Avery, Tasouri Evangelia, Willaredt Marc August and 6 more
Optical genome mapping identifies structural variants in potentially new cancer predisposition candidate genes in pediatric cancer patients.
International journal of cancer | 2024-02-15 | PMID 37776287
Wagener Rabea, Brandes Danielle, Jung Marie and 8 more
Genes: BRCA2, RPA1
Characterization of the novel HLA-A*33:237 allele by sequencing-based typing.
HLA | 2024-01-01 | PMID 37776303
Torio Alberto, Rodriguez-Nicolas Antonio, Cabo-Zabala Laura and 1 more
BrKCS6 mutation conferred a bright glossy phenotype to Chinese cabbage.
TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik | 2023-09-30 | PMID 37776330
Song Gengxing, Dong Shiyao, Liu Chuanhong and 3 more
Allele-specific regulatory effects on the pig transcriptome.
GigaScience | 2022-12-28 | PMID 37776365
Lin Yu, Li Jing, Chen Li and 9 more
Phenotype-driven reanalysis reveals five novel pathogenic variants in 40 exome-negative families with Charcot-Marie-Tooth Disease.
Journal of neurology | 2024-01-01 | PMID 37776383
Lin Zhiqiang, Liu Lei, Li Xiaobo and 6 more
LDLR and PCSK9 3´UTR variants and their putative effects on microRNA molecular interactions in familial hypercholesterolemia: a computational approach.
Molecular biology reports | 2023-11-01 | PMID 37776414
de Freitas Renata Caroline Costa, Bortolin Raul Hernandes, Borges Jessica Bassani and 10 more
Association of HOTAIR gene rs920778 (C > T) and rs4759314 (A > G) polymorphism with breast cancer in Egyptian women.
Molecular biology reports | 2023-11-01 | PMID 37776415
Anber Nahla, Tarabay Mohammad M, Elmougy Rehab and 2 more
Identifying the effectiveness of 3D culture systems to recapitulate breast tumor tissue in situ.
Cellular oncology (Dordrecht, Netherlands) | 2024-04-01 | PMID 37776423
Ludwik Katarzyna A, Greathouse Frances R, Han Samuel and 4 more
Widespread alternative splicing dysregulation occurs presymptomatically in CAG expansion spinocerebellar ataxias.
Brain : a journal of neurology | 2024-02-01 | PMID 37776516
Shorrock Hannah K, Lennon Claudia D, Aliyeva Asmer and 9 more
Combined BRAF, MEK, and heat-shock protein 90 inhibition in advanced BRAF V600-mutant melanoma.
Cancer | 2024-01-01 | PMID 37776537
Eroglu Zeynep, Chen Y Ann, Smalley Inna and 8 more
Targeted mutation and inactivation of the kinesin light chain 3 protein-encoding gene have no impact on mouse fertility†.
Biology of reproduction | 2024-01-13 | PMID 37776549
Daniel-Carlier Nathalie, Castille Johan, Passet Bruno and 7 more
Genetic Diagnosis of Children With Neurodevelopmental Disorders Using Whole Genome Sequencing.
Pediatric neurology | 2023-12-01 | PMID 37776660
Shin Sunghwan, Lee Jiwon, Kim Young-Gon and 5 more
Frequency of SCN2A-related disorder in the regional epilepsy centre of brescia between 2002 and 2021.
Clinical neurology and neurosurgery | 2023-11-01 | PMID 37776663
Filippi Corinna, Milito Giuseppe, Accorsi Patrizia and 5 more
Candidate genes related to acute cerebral circulatory disorders in Preeclampsia in the Kazakh Population.
Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association | 2023-11-01 | PMID 37776726
Svyatova Gulnara, Mirzakhmetova Dinara, Berezina Galina and 1 more
Genes: ACE, ITGA2, KDR, PGF, SERPINE1, FLT1, THBD
COVID-19 lockdown, genetic ADHD susceptibility, and mental health in 10- year-old children.
Psychiatry research | 2023-11-01 | PMID 37776756
Hernández-Lorca María, Sevelsted Astrid, Jepsen Jens Richardt Møllegaard and 13 more
A common benign intronic deletion masking a pathogenic deep intronic PCCB variant - genome sequencing and RNA studies to the rescue.
Molecular genetics and metabolism | 2023-11-01 | PMID 37776842
Kurolap Alina, Barel Dalit, Shaul Lotan Nava and 6 more
Analysis of proteome-wide degradation dynamics in ALS SOD1 iPSC-derived patient neurons reveals disrupted VCP homeostasis.
Cell reports | 2023-10-31 | PMID 37776851
Tsioras Konstantinos, Smith Kevin C, Edassery Seby L and 14 more
An AsCas12f-based compact genome-editing tool derived by deep mutational scanning and structural analysis.
Cell | 2023-10-26 | PMID 37776859
Hino Tomohiro, Omura Satoshi N, Nakagawa Ryoya and 24 more
Superior anodic electro-fermentation by enhancing capacity for extracellular electron transfer.
Bioresource technology | 2023-12-01 | PMID 37776913
Gu Liuyan, Xiao Xinxin, Yup Lee Sang and 2 more
Biologics in severe asthma: A pragmatic approach for choosing the right treatment for the right patient.
Respiratory medicine | 2023-11-01 | PMID 37776915
Rogers Linda, Jesenak Milos, Bjermer Leif and 3 more
Safety, Tolerability, Pharmacokinetics, and Preliminary Efficacy of YK-029A in Treatment-Naive Patients With Advanced NSCLC Harboring EGFR Exon 20 Insertion Mutations: A Phase 1 Trial.
Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer | 2024-02-01 | PMID 37776953
Duan Jianchun, Wu Lin, Yang Kunyu and 32 more
Unraveling the genomic background of resilience based on variability in milk yield and milk production levels in North American Holstein cattle through genome-wide association study and Mendelian randomization analyses.
Journal of dairy science | 2024-02-01 | PMID 37776995
Chen Shi-Yi, Gloria Leonardo S, Pedrosa Victor B and 3 more
Unraveling the complexity of polycystic ovary syndrome with animal models.
Journal of genetics and genomics = Yi chuan xue bao | 2024-02-01 | PMID 37777062
Liu Huanju, Tu Mixue, Yin Zhiyong and 3 more
LRRK2 G2019S and Parkinson's disease: insight from Neuroinflammation.
Postgraduate medical journal | 2023-12-21 | PMID 37777187
Yao Xiao-Yan, Guan Li-Na, Chen Qi and 1 more
Fibroblast growth factor receptor 3 mutation attenuates response to immune checkpoint blockade in metastatic urothelial carcinoma by driving immunosuppressive microenvironment.
Journal for immunotherapy of cancer | 2023-09-01 | PMID 37777251
Song Yuxuan, Peng Yun, Qin Caipeng and 4 more
Identification of cystic fibrosis transmembrane conductance regulator gene (CFTR) variants: A retrospective study on the western and southern regions of Saudi Arabia.
Saudi medical journal | 2023-10-01 | PMID 37777263
Almaghamsi Talal, Attiyah Wejdan Ba, Bahasan Mona and 7 more
Coronavirus-19 disease risk and protective factors associated with HLA/KIR polymorphisms in Ecuadorian patients residing in Madrid.
Human immunology | 2023-11-01 | PMID 37777360
Balas Antonio, Moreno-Hidalgo Miguel Ángel, de la Calle-Prieto Fernando and 6 more
Epilepsy-associated genes: an update.
Seizure | 2024-03-01 | PMID 37777370
Zhang Meng-Wen, Liang Xiao-Yu, Wang Jie and 6 more
The origin of bi-dimensionality in plant root traits.
Trends in ecology & evolution | 2024-01-01 | PMID 37777374
Zhang Yue, Cao Jingjing, Lu Mingzhen and 4 more
A case of cerebrotendinous xanthomatosis with massive xanthomas but without a considerable increase in serum cholestanol levels.
Journal of clinical lipidology | 2000-01-01 | PMID 37777472
Takahashi Manabu, Okazaki Hiroaki, Tada Hayato and 1 more
Dendrimer nanotherapy targeting of glial dysfunction improves inflammation and neurobehavioral phenotype in adult female Mecp2-heterozygous mouse model of Rett syndrome.
Journal of neurochemistry | 2024-05-01 | PMID 37777475
Khoury Elizabeth Smith, Patel Ruchit V, O'Ferrall Caroline and 11 more
Gains and losses of the epiphytic lifestyle in epidendroid orchids: review and new analyses of succulence traits.
Annals of botany | 2023-11-25 | PMID 37777476
Collobert Géromine, Perez-Lamarque Benoît, Dubuisson Jean-Yves and 1 more
Effect of recombination on genetic diversity of Caenorhabditis elegans.
Scientific reports | 2023-09-30 | PMID 37777524
Hwang Ho-Yon, Wang Jiou
Deleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortality.
Nature communications | 2023-09-30 | PMID 37777527
Hong Yun Soo, Battle Stephanie L, Shi Wen and 23 more
Genetic diversity of Actinidia spp. shapes the oomycete pattern associated with Kiwifruit Vine Decline Syndrome (KVDS).
Scientific reports | 2023-09-30 | PMID 37777544
Mian Giovanni, Cipriani Guido, Firrao Giuseppe and 2 more
KIF15 missense variant is associated with the early onset of idiopathic pulmonary fibrosis.
Respiratory research | 2023-09-30 | PMID 37777755
Hollmén Maria, Laaka Atte, Partanen Juulia J and 5 more
Host genetic variation drives the differentiation in the ecological role of the native Miscanthus root-associated microbiome.
Microbiome | 2023-09-30 | PMID 37777794
Ji Niuniu, Liang Di, Clark Lindsay V and 2 more
Genome-first approach of the prevalence and cancer phenotypes of pathogenic or likely pathogenic germline TP53 variants.
HGG advances | 2024-01-11 | PMID 37777824
de Andrade Kelvin C, Strande Natasha T, Kim Jung and 15 more
GWAS Meta-Analysis of Suicide Attempt: Identification of 12 Genome-Wide Significant Loci and Implication of Genetic Risks for Specific Health Factors.
The American journal of psychiatry | 2023-10-01 | PMID 37777856
Docherty Anna R, Mullins Niamh, Ashley-Koch Allison E and 245 more
Genes: CACNG2, DRD2, FURIN, NLGN1, PDE4B, SLC6A9, SOX5
Genomic selection for survival under naturally occurring Saprolegnia oomycete infection in farmed European whitefish Coregonus lavaretus.
Journal of animal science | 2023-01-03 | PMID 37777972
Calboli Federico C F, Iso-Touru Terhi, Bitz Oliver and 6 more
Yield of genetic evaluation in non-syndromic pediatric moyamoya patients.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery | 2024-03-01 | PMID 37778001
Slingerland Anna L, Keusch Dylan S, Lehman Laura L and 3 more
Genes: CBL, RNF213
Does the clopidogrel CYP2C19 genotype assay predict postprocedure stenosis in cerebral aneurysms treated with a flow diverter?
Neurosurgical focus | 2023-10-01 | PMID 37778046
Allen Austin J, Gelinne Aaron, Quig Nathan S and 4 more
Preliminary report of transmitted drug resistance to integrase strand chain transfer inhibitors in treatment-naïve HIV infected patients.
Diagnostic microbiology and infectious disease | 2023-12-01 | PMID 37778156
Ferrer Pablo, Ramos Verónica, Puente Maria Ignacia and 1 more
Phylogenetic analysis reveals multiple origins of Chinese gamecocks.
Poultry science | 2023-12-01 | PMID 37778296
Ren Xufang, Guan Zi, Li Haiying and 9 more
Serial Quality of Life Assessment around Screening for Familial Intracranial Aneurysms: A Prospective Cohort Study.
Cerebrovascular diseases (Basel, Switzerland) | 2024-01-01 | PMID 37778329
Mensing Liselore A, Atash Keneshka, Rinkel Gabriel J E and 1 more
APOL1 Gene Variants and Risk for Cardiovascular Disease.
Kidney & blood pressure research | 2023-01-01 | PMID 37778341
Duran Carlos Eduardo, Estacio Mayra, Espinosa Daniela and 4 more
The D647N mutation of FGFR1 induces ligand-independent receptor activation.
Biochimica et biophysica acta. General subjects | 2023-12-01 | PMID 37778450
Domenichini Mattia, Ravelli Cosetta, Corsini Michela and 8 more
APOE-Genotype and Insulin Modulate Estimated Effect of Dietary Macronutrients on Cognitive Performance: Panel Analyses in Nondiabetic Older Adults at Risk of Dementia.
The Journal of nutrition | 2023-12-01 | PMID 37778510
Norgren Jakob, Sindi Shireen, Matton Anna and 2 more
Clinical Subtypes of Neutrophilic Asthma: A Cluster Analysis From Australasian Severe Asthma Network.
The journal of allergy and clinical immunology. In practice | 2024-03-01 | PMID 37778630
He Li Xiu, Deng Ke, Wang Ji and 18 more
Noninvasive prediction of IDH mutation status in gliomas using preoperative multiparametric MRI radiomics nomogram: A mutlicenter study.
Magnetic resonance imaging | 2023-12-01 | PMID 37778708
Lu Jun, Xu Wenjuan, Chen Xiaocao and 2 more
Genome-wide meta-analysis of 92 cardiometabolic protein serum levels.
Molecular metabolism | 2023-12-01 | PMID 37778719
Gilly Arthur, Park Young-Chan, Tsafantakis Emmanouil and 3 more
A purebred South American breed showing high effective population size and independent breed ancestry: The Chilean Terrier.
Animal genetics | 2023-12-01 | PMID 37778752
Mujica Paola C, Martinez Víctor
Endoscopic features with associated histological and molecular alterations in serrated polyps with dysplasia: Retrospective analysis of a tertiary case series.
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver | 2024-04-01 | PMID 37778895
Trecca Antonello, Borghini Raffaele, Medicina Daniela and 6 more
Genes: BRAF, KRAS, NRAS
Differential Expression of Peripheral Circulating MicroRNA-146a Between Patients with Atherosclerotic Vulnerable Plaque and Stable Plaque.
International heart journal | 2023-01-01 | PMID 37778988
Song Yenwen, Zhang Lei, Huang Ye
Human Keratinocyte Entry of Noninvasive Streptococcus dysgalactiae Subsp. equisimilis from Humans and Companion Animals: Relatedness with Lancefield Group, Source, Virulence-Associated Genes, and Antimicrobial Resistance Phenotype.
Japanese journal of infectious diseases | 2024-01-24 | PMID 37779027
Yoshida Haruno, Takayama Yoshiko, Goto Mieko and 3 more
Impact of somatic mutations and transcriptomic alterations on cancer aneuploidy.
Biomedical research (Tokyo, Japan) | 2023-01-01 | PMID 37779031
Hatakeyama Keiichi, Nagashima Takeshi, Ohshima Keiichi and 12 more
STAT1 Mutations in Chronic Mucocutaneous Candidiasis Diagnosed in an Adult.
Internal medicine (Tokyo, Japan) | 2024-05-01 | PMID 37779067
Andou Miya, Tominaga Masaki, Nishikomori Ryuta and 5 more
Intrahepatic Cholangiocarcinoma with High Microsatellite Instability and Tumor Mutation Burden That Responded Significantly to Pembrolizumab but Perforated within a Short Period.
Internal medicine (Tokyo, Japan) | 2024-04-15 | PMID 37779076
Yamazaki Shiori, Kubota Koji, Shimizu Akira and 9 more
Intraindividual variation in histone acetylation and its impact on autoimmune thyroid diseases.
Endocrine journal | 2023-12-28 | PMID 37779085
Haga Emi, Inoue Naoya, Iwatani Yoshinori and 6 more
Influence of variant-specific mutations, temperature and pH on conformations of a large set of SARS-CoV-2 spike trimer vaccine antigen candidates.
Scientific reports | 2023-10-01 | PMID 37779126
Stuible Matthew, Schrag Joseph D, Sheff Joey and 12 more
Oncogenic KRAS mutation confers chemoresistance by upregulating SIRT1 in non-small cell lung cancer.
Experimental & molecular medicine | 2023-10-01 | PMID 37779142
Shin Dong Hoon, Jo Jeong Yeon, Choi Minyoung and 3 more
Biomarker Testing for Actionable Alterations in NSCLC-Perspectives from US-Based Academic and Community Oncologists: A Podcast.
Advances in therapy | 2023-12-01 | PMID 37779172
Iams Wade T, Konduri Kartik
Relationship between antibiotic resistance and the cagA and vacA genotypes among Helicobacter pylori strain isolates from patients in Xi'an.
Brazilian journal of microbiology : [publication of the Brazilian Society for Microbiology] | 2023-12-01 | PMID 37779175
Zhao Ping, Zhao Juhui, Shi Haitao and 4 more
The novel HLA-A*11:448 allele, identified by Sanger dideoxy nucleotide sequencing in a Chinese individual.
HLA | 2024-01-01 | PMID 37779348
Lou Can, Wang Jing, An Lin and 2 more
Multi-tissue transcriptome-wide association study reveals susceptibility genes and drug targets for insulin resistance-relevant phenotypes.
Diabetes, obesity & metabolism | 2024-01-01 | PMID 37779362
Duan Yuan-Yuan, Ke Xin, Wu Hao and 9 more
Genes: CACNB2, DRD2, H6PD
Associations Between Sleep Traits and Social Isolation: Observational and Bidirectional Mendelian Randomization Study.
The journals of gerontology. Series A, Biological sciences and medical sciences | 2024-01-01 | PMID 37779488
Wang Jiao, Wang Ying, Jiang Chao Qiang and 5 more
Effect of ethyl methanesulfonate mediated mutation for enhancing morpho-physio-biochemical and yield contributing traits of fragrant rice.
PeerJ | 2023-01-01 | PMID 37780391
Shamshad Areeqa, Rashid Muhammad, Jankuloski Ljupcho and 6 more
Association detection between multiple traits and rare variants based on family data via a nonparametric method.
PeerJ | 2023-01-01 | PMID 37780393
Chi Jinling, Xu Meijuan, Sheng Xiaona and 1 more
Case Report: A 65-year-old man with paraganglioma accompanied by elevated interleukin-6 levels and KIF1B single gene mutation.
Frontiers in endocrinology | 2023-01-01 | PMID 37780619
Wang Chi, Guan Ming, Zhang Shuang and 1 more
Nature and nurture: understanding phenotypic variation in inborn errors of immunity.
Frontiers in cellular and infection microbiology | 2023-01-01 | PMID 37780853
Similuk Morgan, Kuijpers Taco
Expanding OBSL1 Mutation Phenotype: Disproportionate Short Stature, Barrel Chest, Thoracic Kyphoscoliosis, Hypogonadism, and Hypospadias.
The Yale journal of biology and medicine | 2023-09-01 | PMID 37780995
Koprulu Mine, Shabbir Rana Muhammad Kamran, Mumtaz Sara and 2 more
A Recurrent Mutation in Growth Hormone Receptor (GHR) Gene Underlying Laron-type Dwarfism in a Pakistani Family.
The Yale journal of biology and medicine | 2023-09-01 | PMID 37780997
Shabbir Rana Muhammad Kamran, Nalbant Gökhan, Zaman Qamar and 3 more
Homozygous Mutations in Thyroid Peroxidase (TPO) in Hypothyroidism with Intellectual Disability, Developmental Delay, and Hearing and Ocular Anomalies in Two Families: Severe Manifestation of Untreated TPO-deficiency Poses a Diagnostic Dilemma.
The Yale journal of biology and medicine | 2023-09-01 | PMID 37780999
Naqvi Syeda Farwa, Yıldız-Bölükbaşı Esra, Afzal Muhammad and 4 more
A Stop-gain Variant c.220C>T (p.(Gln74*)) in FLNB Segregates with Spondylocarpotarsal Synostosis Syndrome in a Consanguineous Family.
The Yale journal of biology and medicine | 2023-09-01 | PMID 37781000
Shahid Hamna, Shakoor Nazish, Bibi Anisa and 5 more
Mutations on a conserved distal enhancer in the porcine C-reactive protein gene impair its expression in liver.
Frontiers in immunology | 2023-01-01 | PMID 37781386
Hernández-Banqué Carles, Jové-Juncà Teodor, Crespo-Piazuelo Daniel and 7 more