Genetic testing and family entanglements.
Social science & medicine (1982) | 2022-04-01 | PMID 35245754
Dimond Rebecca, Doheny Shane, Ballard Lisa 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 8854 of 10600
EGFR-RAD51 fusion in lung adenocarcinoma with systemic and intracranial response to osimertinib: A case report and review of the literature.
Lung cancer (Amsterdam, Netherlands) | 2022-04-01 | PMID 35245845
Copia Sperandio Rubens, Luiza Teixeira Tostes Francinne, Vidal Campregher Paulo and 3 more
Generation of heterozygous (MRli003-A-3) and homozygous (MRli003-A-4) TRPM4 knockout human iPSC lines.
Stem cell research | 2022-04-01 | PMID 35245852
Zhang Fangfang, Meier Anna B, Lipp Peter and 3 more
Generation of catecholaminergic polymorphic ventricular tachycardia patient-specific induced pluripotent stem cell line.
Stem cell research | 2022-04-01 | PMID 35245853
Colombani Sarah, Bernardin Albin A, Vincenti Marie and 7 more
High-throughput sequencing data revealed genotype-specific changes evoked by heat stress in crown tissue of barley sdw1 near-isogenic lines.
BMC genomics | 2022-03-04 | PMID 35246029
Mikołajczak Krzysztof, Kuczyńska Anetta, Ogrodowicz Piotr and 6 more
Partial CHARGE syndrome with bilateral retinochoroidal colobomas associated with 7q11.23 duplication syndrome: case report.
BMC ophthalmology | 2022-03-04 | PMID 35246073
Donabedian Patrick L, Walia Jessica Y, Agarwal-Sinha Swati
A compound heterozygous mutation in the S-Antigen Visual Arrestin SAG gene in a Chinese patient with Oguchi type one: a case report.
BMC ophthalmology | 2022-03-04 | PMID 35246075
Deng Zhen, Fan Fangli, Tang Danyan and 3 more
Fragile X premutation carrier screening in Pakistani preconception women in primary care consultation.
BMC women's health | 2022-03-04 | PMID 35246105
Meraj Neelam, Yasin Muhammad, Rehman Zia Ur and 10 more
Li-Fraumeni syndrome in Tunisian carriers with different and rare tumor phenotype: genotype-phenotype correlation.
BMC medical genomics | 2022-03-04 | PMID 35246108
Sassi Hela, Meddeb Rym, Cherif Mohamed Aziz and 5 more
A novel bi-alleleic DDX41 mutations in B-cell lymphoblastic leukemia: case report.
BMC medical genomics | 2022-03-04 | PMID 35246110
Shin Woo Yong, Yoon Seug Yun, Park Rojin and 5 more
Acceleration of the DNA methylation clock among lynch syndrome-associated mutation carriers.
BMC medical genomics | 2022-03-04 | PMID 35246124
Cuadros Marta, Cano Carlos, Garcia-Rodriguez Sonia and 13 more
De novo generation of the NPM-ALK fusion recapitulates the pleiotropic phenotypes of ALK+ ALCL pathogenesis and reveals the ROR2 receptor as target for tumor cells.
Molecular cancer | 2022-03-04 | PMID 35246138
Babin Loélia, Darchen Alice, Robert Elie and 18 more
A novel approach for relapsed/refractory FLT3mut+ acute myeloid leukaemia: synergistic effect of the combination of bispecific FLT3scFv/NKG2D-CAR T cells and gilteritinib.
Molecular cancer | 2022-03-04 | PMID 35246156
Li Ke-Xin, Wu Hui-Yang, Pan Wan-Ying and 6 more
Increased risk of internal tumors in DNA repair-deficient xeroderma pigmentosum patients: analysis of four international cohorts.
Orphanet journal of rare diseases | 2022-03-04 | PMID 35246173
Nikolaev Sergey, Yurchenko Andrey A, Sarasin Alain
Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia.
Orphanet journal of rare diseases | 2022-03-04 | PMID 35246174
Taylor Rachel L, Soriano Carla Sanjuro, Williams Simon and 9 more
Prevalence and distribution of human papillomavirus (HPV) in Luoyang city of Henan province during 2015-2021 and the genetic variability of HPV16 and 52.
Virology journal | 2022-03-04 | PMID 35246180
Wang Xiuli, Han Shuizhong, Li Xingwei and 3 more
Improving clinical trial readiness to accelerate development of new therapeutics for Rett syndrome.
Orphanet journal of rare diseases | 2022-03-04 | PMID 35246185
Leonard Helen, Gold Wendy, Samaco Rodney and 3 more
Application of a VP4/VP2-inferred transmission clusters in estimating the impact of interventions on rhinovirus transmission.
Virology journal | 2022-03-04 | PMID 35246187
Ng Kim Tien, Ng Liang Jie, Oong Xiang Yong and 5 more
Genetic mutation spectrum of pantothenate kinase-associated neurodegeneration expanded by breakpoint sequencing in pantothenate kinase 2 gene.
Orphanet journal of rare diseases | 2022-03-04 | PMID 35246191
Yang Dahae, Cho Sanghyun, Cho Sung Im and 3 more
Transcriptomic analysis of patients with clinical suspicion of maturity-onset diabetes of the young (MODY) with a negative genetic diagnosis.
Orphanet journal of rare diseases | 2022-03-04 | PMID 35246208
Vázquez-Mosquera María E, González-Vioque Emiliano, Barbosa-Gouveia Sofía and 7 more
Allele-specific expression reveals genes with recurrent cis-regulatory alterations in high-risk neuroblastoma.
Genome biology | 2022-03-04 | PMID 35246212
Sen Arko, Huo Yuchen, Elster Jennifer and 2 more
Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of the genomic and phenotypic profiles.
Italian journal of pediatrics | 2022-03-04 | PMID 35246213
Serra Gregorio, Antona Vincenzo, Giuffrè Mario and 4 more
A new phenotype of aldolase a deficiency in a 14 year-old boy with epilepsy and rhabdomyolysis - case report.
Italian journal of pediatrics | 2022-03-04 | PMID 35246226
Santoro Lucia, Pjetraj Dorina, Velmishi Virtut and 4 more
Mutational status may supersede tumor size in predicting the presence of aggressive pathologic features in well differentiated thyroid cancer.
Journal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-faciale | 2022-03-04 | PMID 35246262
Semsar-Kazerooni Koorosh, Morand Grégoire B, Payne Alexandra E and 6 more
Enhancer promoter interactome and Mendelian randomization identify network of druggable vascular genes in coronary artery disease.
Human genomics | 2022-03-04 | PMID 35246263
Chignon Arnaud, Mathieu Samuel, Rufiange Anne and 6 more
Circular RNA detection identifies circPSEN1 alterations in brain specific to autosomal dominant Alzheimer's disease.
Acta neuropathologica communications | 2022-03-04 | PMID 35246267
Chen Hsiang-Han, Eteleeb Abdallah, Wang Ciyang and 19 more
Genes: PSEN1, APP, PSEN2, DCC
InFUSing antisense oligonucleotides for treating ALS.
Trends in molecular medicine | 2022-04-01 | PMID 35246398
Codron Philippe, Cassereau Julien, Vourc'h Patrick
Genes: FUS
Noonan syndrome: improving recognition and diagnosis.
Archives of disease in childhood | 2022-12-01 | PMID 35246453
Zenker Martin, Edouard Thomas, Blair Joanne C and 1 more
Familial risk of atrioventricular block in first-degree relatives.
Heart (British Cardiac Society) | 2022-07-13 | PMID 35246466
Dyssekilde Johnni Resdal, Christiansen Morten Krogh, Johansen Jens Brock and 3 more
Risk factors for placental human papillomavirus infection.
Sexually transmitted infections | 2022-12-01 | PMID 35246478
Niyibizi Joseph, Mayrand Marie-Hélène, Audibert Francois and 13 more
Whole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil.
Nature communications | 2022-03-04 | PMID 35246524
Naslavsky Michel S, Scliar Marilia O, Yamamoto Guilherme L and 39 more
Elevated lipoprotein(a) and genetic polymorphisms in the LPA gene may predict cardiovascular events.
Scientific reports | 2022-03-04 | PMID 35246583
Gu Jun-Xu, Huang Juan, Li Shan-Shan and 8 more
The symptom discounting effect: what to do when negative genetic test results become risk factors for alcohol use disorder.
Scientific reports | 2022-03-04 | PMID 35246586
Ahn Woo-Kyoung, Perricone Annalise M
Treatment of severe Kaposiform lymphangiomatosis positive for NRAS mutation by MEK inhibition.
Pediatric research | 2023-12-01 | PMID 35246606
Chowers Guy, Abebe-Campino Gadi, Golan Hana and 12 more
Region-based analysis of rare genomic variants in whole-genome sequencing datasets reveal two novel Alzheimer's disease-associated genes: DTNB and DLG2.
Molecular psychiatry | 2022-04-01 | PMID 35246634
Prokopenko Dmitry, Lee Sanghun, Hecker Julian and 10 more
A novel in-frame GFAP p.E138_L148del mutation in Type II Alexander disease with atypical phenotypes.
European journal of human genetics : EJHG | 2022-06-01 | PMID 35246666
Kang You-Ri, Lee So-Hyun, Lin Ni-Hsuan and 9 more
Research progress of miRNA-disease association prediction and comparison of related algorithms.
Briefings in bioinformatics | 2022-05-13 | PMID 35246678
Yu Liang, Zheng Yujia, Ju Bingyi and 2 more
5-HTT genotype and inertia of negative affect in adolescents and young adults from the general population.
Journal of neural transmission (Vienna, Austria : 1996) | 2022-03-01 | PMID 35246765
Ollmann T M, Seidl E, Venz J and 8 more
Geometry and phenomenology of the living: Limits and possibilities of mathematization, complexity and individuation in biological sciences.
Theory in biosciences = Theorie in den Biowissenschaften | 2022-06-01 | PMID 35246778
Boi Luciano, Lobo Carlos
A Novel AICDA Splice-Site Mutation in Two Siblings with HIGM2 Permits Somatic Hypermutation but Abrogates Mutational Targeting.
Journal of clinical immunology | 2022-05-01 | PMID 35246784
Dirks Johannes, Haase Gabriele, Cantaert Tineke and 6 more
The periplasmic chaperone protein Psg_2795 contributes to the virulence of Pseudomonas savastanoi pv. glycinea: the causal agent of bacterial blight of soybean.
Journal of microbiology (Seoul, Korea) | 2022-05-01 | PMID 35246805
Wang Xiuhua, Zhang Xiaoyan, Lu Bao-Hui and 1 more
Clinical Spectrum of Monogenic Infantile-Onset Inflammatory Bowel Disease.
Indian journal of pediatrics | 2022-05-01 | PMID 35246832
Ganesh Ramaswamy, Sathiyasekeran Malathi, Srinivas Sankaranarayanan and 1 more
A novel homozygous variant in COX5A causes an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia, and short stature.
Clinical genetics | 2022-07-01 | PMID 35246835
Torraco Alessandra, Morlino Silvia, Rizza Teresa and 8 more
Whole-transcriptome sequencing identifies postzygotic ATP2A2 mutations in a patient misdiagnosed with herpes zoster, confirming the diagnosis of very late-onset segmental Darier disease.
Experimental dermatology | 2022-06-01 | PMID 35246884
Mohaghegh Fatemeh, Youssefian Leila, Galehdari Hamid and 3 more
Toward a better understanding of the experience of patients with moderate penetrance breast cancer gene pathogenic/likely pathogenic variants: A focus on ATM and CHEK2.
Journal of genetic counseling | 2022-08-01 | PMID 35246915
McCormick Shelley, Hicks Stephanie, Wooters Mackenzie and 1 more
Distribution and phylogenetics of hepatitis E virus genotype 4 in humans and animals.
Zoonoses and public health | 2022-08-01 | PMID 35246959
Li Bingzhe, Wagner Abram L, Song Yujian and 2 more
Full genomic sequence of the HLA-DPA1*02:46 allele identified by next generation sequencing.
HLA | 2022-07-01 | PMID 35246963
Liacini Abdelhamid, Peters Lindsey, Pfau Kimberly and 2 more
Pulmonary manifestations and the effectiveness of enzyme replacement therapy in Fabry Disease with the p. Arg227Ter (p.R227*) mutation.
Molecular genetics & genomic medicine | 2022-05-01 | PMID 35246967
Pietilä-Effati Päivi, Söderström Johan, Saarinen Jukka T and 2 more
PP6 deficiency in mice with KRAS mutation and Trp53 loss promotes early death by PDAC with cachexia-like features.
Cancer science | 2022-05-01 | PMID 35247012
Fukui Katsuya, Nomura Miyuki, Kishimoto Kazuhiro and 18 more
Leptin gene contributes to beef marbling standard, meat brightness, meat firmness, and beef fat standard of the Kumamoto sub-breed of Japanese Brown cattle.
Animal science journal = Nihon chikusan Gakkaiho | 2000-01-01 | PMID 35247014
Matsumoto Hirokazu, Kimura Satoshi, Nagai Yohsuke and 5 more
Pollen morphology of selected melliferous plants and its taxonomic implications using microscopy.
Microscopy research and technique | 2022-07-01 | PMID 35247018
Attique Rafia, Zafar Muhammad, Ahmad Mushtaq and 9 more
Alternative LIM homeodomain splice variants are dynamically regulated at key developmental steps in vertebrates.
Developmental dynamics : an official publication of the American Association of Anatomists | 2022-07-01 | PMID 35247020
Wheaton Benjamin Joel, Häggström Sara Lea, Muppavarapu Mridula and 2 more
Risk stratification of indeterminate thyroid nodules by novel multigene testing: a study of Asians with a high risk of malignancy.
Molecular oncology | 2022-04-01 | PMID 35247035
Hu Chunfang, Jing Weiwei, Chang Qing and 9 more
Cancer Stem Cell DNA Enabled Real-Time Genotyping with Self-Functionalized Quantum Superstructures-Overcoming the Barriers of Noninvasive cfDNA Cancer Diagnostics.
Small methods | 2022-04-01 | PMID 35247038
Haldavnekar Rupa, Ganesh Swarna, Venkatakrishnan Krishnan and 1 more
Genetic diversity, frequency and concurrent infections of picobirnaviruses in diarrhoeic calves in Turkey.
Tropical animal health and production | 2022-03-05 | PMID 35247085
Atasoy Mustafa Ozan, Isidan Hakan, Turan Turhan
Plastid ribosome protein L5 is essential for post-globular embryo development in Arabidopsis thaliana.
Plant reproduction | 2022-09-01 | PMID 35247095
Dupouy Gilles, McDermott Emma, Cashell Ronan and 8 more
Warfarin dosing strategies evolution and its progress in the era of precision medicine, a narrative review.
International journal of clinical pharmacy | 2022-06-01 | PMID 35247148
Fahmi Amr Mohamed, Elewa Hazem, El Jilany Islam
Thyroid hormone tinkering elicits integrated phenotypic changes potentially explaining rapid adaptation of color vision in cichlid fish.
Evolution; international journal of organic evolution | 2022-04-01 | PMID 35247267
Karagic Nidal, Härer Andreas, Meyer Axel and 1 more
Integrated multi-omic data and analyses reveal the pathways underlying key ornamental traits in carnation flowers.
Plant biotechnology journal | 2022-06-01 | PMID 35247284
Zhang Xiaoni, Lin Shengnan, Peng Dan and 9 more
A novel KCNQ2 missense variant in non-syndromic intellectual disability causes mild gain-of-function of Kv7.2 channel.
Clinica chimica acta; international journal of clinical chemistry | 2022-05-01 | PMID 35247435
Xiong Juan, Chen Shimeng, Chen Baiyu and 9 more
SLC35E2 promoter mutation as a prognostic marker of esophageal squamous cell carcinoma.
Life sciences | 2022-05-01 | PMID 35247439
Li Yang, Feng Riyue, Yu Xiao and 6 more
High dose sofosbuvir and sofosbuvir-plus-ribavirin therapy inhibit Hepatitis E Virus (HEV) replication in a rabbit model for acute HEV infection.
Antiviral research | 2022-03-01 | PMID 35247472
Liang Zhaochao, Shu Jingyi, He Qiyu and 5 more
Whole genome analysis of rotavirus strains circulating in Benin before vaccine introduction, 2016-2018.
Virus research | 2022-05-01 | PMID 35247484
Agbla Jijoho Michel, Esona Mathew D, Jaimes Jose and 9 more
Apoptotic body-inspired nanoparticles target macrophages at sites of inflammation to support an anti-inflammatory phenotype shift.
International journal of pharmaceutics | 2022-04-25 | PMID 35247497
Kraynak Chelsea A, Huang Wenbai, Bender Elizabeth C and 4 more
SARS-CoV-2's high rate of genetic mutation under immune selective pressure: from oropharyngeal B.1.1.7 to intrapulmonary B.1.533 in a vaccinated patient.
International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases | 2022-05-01 | PMID 35247550
Musso Nicolò, Maugeri Jessica Giuseppina, Bongiorno Dafne and 4 more
The Importance of Periodical Screening for Primary Hyperparathyroidism in a Pituitary Tumor Cohort in Searching Patients With MEN1 and Its Genetic Profile.
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists | 2022-05-01 | PMID 35247589
Damianse Sabrina S P, Nascimento Gilvan C, Rocha Viviane C C and 8 more
The identification of PSEN1 p.Tyr159Ser mutation in a non-canonic early-onset Alzheimer's disease family.
Molecular and cellular neurosciences | 2022-05-01 | PMID 35247599
Li Haitao, Li Yu, Liang Wenping and 12 more
Transcriptome unveiled the gene expression patterns of root architecture in drought-tolerant and sensitive wheat genotypes.
Plant physiology and biochemistry : PPB | 2022-05-01 | PMID 35247694
Rasool Fatima, Khan Muhammad Ramzan, Schneider Michael and 5 more
A genome-wide association study of mare fertility in the Pura Raza Español horse.
Animal : an international journal of animal bioscience | 2022-03-01 | PMID 35247706
Laseca N, Demyda-Peyrás S, Valera M and 4 more
The associations between sleep behaviors, lifestyle factors, genetic risk and mental disorders: A cohort study of 402 290 UK Biobank participants.
Psychiatry research | 2022-05-01 | PMID 35247746
Pan Chuyu, Ye Jing, Wen Yan and 13 more
Non-adaptive complexity and biochemical function.
Current opinion in structural biology | 2022-04-01 | PMID 35247750
Schulz Luca, Sendker Franziska L, Hochberg Georg K A
Computational studies on the interaction of SARS-CoV-2 Omicron SGp RBD with human receptor ACE2, limonin and glycyrrhizic acid.
Computers in biology and medicine | 2022-05-01 | PMID 35247766
Vardhan Seshu, Sahoo Suban K
Generation of a heterozygous FUS-Q290X knock in human embryonic stem cell line (WAe009-A-83) using CRISPR/Cas9 system.
Stem cell research | 2022-04-01 | PMID 35247836
Zhang Yamin, Zhu Jing, Dai Yaozhang and 3 more
Generation of a gene corrected human isogenic iPSC line (CPGHi001-A-1) from a hearing loss patient with the TMC1 p.M418K mutation using CRISPR/Cas9.
Stem cell research | 2022-04-01 | PMID 35247837
Wang Hongyang, Luo Yi, Li Jin and 3 more
Generation of human induced pluripotent stem cell (iPSC) lines derived from five patients carrying the pathogenic phospholamban-R14del (PLN-R14del) variant and three non-carrier family members.
Stem cell research | 2022-04-01 | PMID 35247838
Mittal Nishka, Dave Jaydev, Harakalova Magdalena and 6 more
Generation of three induced pluripotent stem cell lines (UQACi003-A, UQACi004-A, and UQACi006-A) from three patients with KRT5 epidermolysis bullosa simplex mutations.
Stem cell research | 2022-04-01 | PMID 35247839
Bchetnia Mbarka, Martineau Laurie, Racine Véronique and 6 more
Generation of three hiPSC clones from a Parkinson's disease patient with a heterozygous variant of VPS35 p.D620N.
Stem cell research | 2022-04-01 | PMID 35247840
Ishikawa Kei-Ichi, Ishiguro Mayu, Li Yuanzhe and 3 more
Establishment of human embryonic stem cell WAe009-A-74 carrying a Long QT syndrome mutation in KCNH2.
Stem cell research | 2022-04-01 | PMID 35247842
Sun Lixiang, Zhong Jiaqi, Wu Fujian and 3 more
Generation of two induced pluripotent stem cell (iPSC) lines (BBANTWi006-A, BBANTWi007-A) from Brugada syndrome patients carrying an SCN5A mutation.
Stem cell research | 2022-04-01 | PMID 35247843
Simons Eline, Nijak Aleksandra, Loeys Bart and 1 more
Mutation and evolution of metallo-beta-lactamase CphA under the selective pressure of biapenem continuous concentration gradient.
Journal of inorganic biochemistry | 2022-05-01 | PMID 35247853
Dong Xiaoting, Wang Jing, Wang Zhuanhong and 2 more
Genetic Regulation of DNA Methylation Yields Novel Discoveries in GWAS of Colorectal Cancer.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology | 2022-05-04 | PMID 35247911
Barfield Richard, Huyghe Jeroen R, Lemire Mathieu and 27 more
Proteolytic pan-RAS Cleavage Leads to Tumor Regression in Patient-derived Pancreatic Cancer Xenografts.
Molecular cancer therapeutics | 2022-05-04 | PMID 35247912
Vidimar Vania, Park Minyoung, Stubbs Caleb K and 6 more
Targeted Analysis of Cell-free Circulating Tumor DNA is Suitable for Early Relapse and Actionable Target Detection in Patients with Neuroblastoma.
Clinical cancer research : an official journal of the American Association for Cancer Research | 2022-05-02 | PMID 35247920
Lodrini Marco, Graef Josefine, Thole-Kliesch Theresa M and 18 more
Genome-wide recombination map construction from single sperm sequencing in cattle.
BMC genomics | 2022-03-05 | PMID 35247961
Yang Liu, Gao Yahui, Li Mingxun and 20 more
DrGA: cancer driver gene analysis in a simpler manner.
BMC bioinformatics | 2022-03-05 | PMID 35247965
Nguyen Quang-Huy, Nguyen Tin, Le Duc-Hau
Hydrogen sulfide attenuates intracellular oxidative stress via repressing glycolate oxidase activities in Arabidopsis thaliana.
BMC plant biology | 2022-03-05 | PMID 35247968
Wang Lijuan, Mu Xiujie, Chen Xi and 1 more
Linking genome wide RNA sequencing with physio-biochemical and cytological responses to catalogue key genes and metabolic pathways for alkalinity stress tolerance in lentil (Lens culinaris Medikus).
BMC plant biology | 2022-03-05 | PMID 35247970
Singh Dharmendra, Singh Chandan Kumar, Taunk Jyoti and 8 more
Anti-tumor treatment and healthcare consumption near death in the era of novel treatment options for patients with melanoma brain metastases.
BMC cancer | 2022-03-05 | PMID 35247992
Eggen Annemarie C, Hospers Geke A P, Bosma Ingeborg and 3 more
Association of CATSPER1, SPATA16 and TEX11 genes polymorphism with idiopathic azoospermia and oligospermia risk in Iranian population.
BMC medical genomics | 2022-03-05 | PMID 35248021
Behvarz Mohammadreza, Rahmani Seyyed Ali, Siasi Torbati Elham and 2 more
Cost-utility analysis of four WHO-recommended sofosbuvir-based regimens for the treatment of chronic hepatitis C in sub-Saharan Africa.
BMC health services research | 2022-03-05 | PMID 35248039
Boyer Sylvie, Baudoin Maël, Nishimwe Marie Libérée and 13 more
Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes.
Orphanet journal of rare diseases | 2022-03-05 | PMID 35248088
Mutai Hideki, Momozawa Yukihide, Kamatani Yoichiro and 6 more
Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations.
Orphanet journal of rare diseases | 2022-03-05 | PMID 35248096
Chikhaoui Asma, Kraoua Ichraf, Calmels Nadège and 10 more
The GAIRS Checklist: a useful global assessment tool in patients with Rett syndrome.
Orphanet journal of rare diseases | 2022-03-05 | PMID 35248112
Fabio Rosa Angela, Semino Martina, Giannatiempo Samantha
Temperature, season, and latitude influence development-related phenotypes of Philippine Aedes aegypti (Linnaeus): Implications for dengue control amidst global warming.
Parasites & vectors | 2022-03-05 | PMID 35248140
Edillo Frances, Ymbong Rhoniel Ryan, Bolneo Alyssa Angel and 6 more
Echinococcus spp. and genotypes infecting humans in Tibet Autonomous Region of China: a molecular investigation with near-complete/complete mitochondrial sequences.
Parasites & vectors | 2022-03-05 | PMID 35248153
Zhao Yanping, Gesang Dunzhu, Wan Li and 14 more
Genetics of cognitive dysfunction in Parkinson's disease.
Progress in brain research | 2022-01-01 | PMID 35248195
Wise Adina H, Alcalay Roy N
Elevated non-coding promoter mutations are associated with malignant transformation of melanocytic naevi to melanoma.
Pathology | 2022-08-01 | PMID 35248370
Colebatch Andrew J, Paver Elizabeth C, Vergara Ismael A and 4 more
Selection on functional longevity in a commercial population of dairy goats translates into significant differences in longevity in a common farm environment.
Journal of dairy science | 2022-05-01 | PMID 35248381
Ithurbide M, Huau C, Palhière I and 3 more
The β-casein (CSN2) A2 allelic variant alters milk protein profile and slightly worsens coagulation properties in Holstein cows.
Journal of dairy science | 2022-05-01 | PMID 35248385
Bisutti V, Pegolo S, Giannuzzi D and 7 more
Selective Xi reactivation and alternative methods to restore MECP2 function in Rett syndrome.
Trends in genetics : TIG | 2022-09-01 | PMID 35248405
Grimm Niklas-Benedikt, Lee Jeannie T