Long-read human genome sequencing and its applications.
Nature reviews. Genetics | 2020-10-01 | PMID 32504078
Logsdon Glennis A, Vollger Mitchell R, Eichler Evan E
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.
Semantic proximity supports literature exploration. It does not establish scientific or clinical evidence.
Publications
Page 8174 of 10600
A global Slc7a7 knockout mouse model demonstrates characteristic phenotypes of human lysinuric protein intolerance.
Human molecular genetics | 2020-08-03 | PMID 32504080
Stroup Bridget M, Marom Ronit, Li Xiaohui and 19 more
Genes: F2, SLC7A7
Loss of TMEM106B leads to myelination deficits: implications for frontotemporal dementia treatment strategies.
Brain : a journal of neurology | 2020-06-01 | PMID 32504082
Zhou Xiaolai, Nicholson Alexandra M, Ren Yingxue and 19 more
Correction of amyotrophic lateral sclerosis related phenotypes in induced pluripotent stem cell-derived motor neurons carrying a hexanucleotide expansion mutation in C9orf72 by CRISPR/Cas9 genome editing using homology-directed repair.
Human molecular genetics | 2020-08-03 | PMID 32504093
Ababneh Nidaa A, Scaber Jakub, Flynn Rowan and 8 more
Arginine derivatives in atrial fibrillation progression phenotypes.
Journal of molecular medicine (Berlin, Germany) | 2020-07-01 | PMID 32504111
Büttner Petra, Bahls Martin, Böger Rainer H and 4 more
Toxoplasma infection in patients with myocardial infarction.
Wiener klinische Wochenschrift | 2020-12-01 | PMID 32504113
Gohari Omid, Dalimi Abdolhossen, Pirestani Majid
DHH pathogenic variants involved in 46,XY disorders of sex development differentially impact protein self-cleavage and structural conformation.
Human genetics | 2020-11-01 | PMID 32504121
Elzaiat Maëva, Flatters Delphine, Sierra-Díaz Diana Carolina and 3 more
Complete mitogenome data for the Serbian population: the contribution to high-quality forensic databases.
International journal of legal medicine | 2020-09-01 | PMID 32504149
Davidovic Slobodan, Malyarchuk Boris, Grzybowski Tomasz and 6 more
A rare case of oligodendroglioma with gangliocytic differentiation in a 31-year-old male: importance of genetic testing for IDH1/2.
Brain tumor pathology | 2020-07-01 | PMID 32504153
Park Ji Hyun, Cha Yoon Jin, Chang Jong Hee and 2 more
High Expression of NEK2 and PIM1, but Not PIM3, Is Linked to an Aggressive Phenotype of Bronchopulmonary Neuroendocrine Neoplasms.
Endocrine pathology | 2020-09-01 | PMID 32504181
Motylewska Ewelina, Braun Marcin, Stępień Henryk
Age-dependent association of CYP2C19 polymorphisms with clinical outcome of clopidogrel therapy in minor stroke patients with large-artery atherosclerosis.
European journal of clinical pharmacology | 2020-09-01 | PMID 32504182
Wang Dapeng, Li Lingjie, Jiang Jianhua and 5 more
Monosomal karyotype and chromosome 17p loss or TP53 mutations in decitabine-treated patients with acute myeloid leukemia.
Annals of hematology | 2020-07-01 | PMID 32504186
Becker Heiko, Pfeifer Dietmar, Ihorst Gabriele and 15 more
Two cases of somatic STK11 mosaicism in Danish patients with Peutz-Jeghers syndrome.
Familial cancer | 2021-01-01 | PMID 32504210
Jelsig Anne Marie, Bertelsen Birgitte, Forss Isabel and 1 more
Genome-wide association reveals a complex architecture for rust resistance in 2300 worldwide bread wheat accessions screened under various Australian conditions.
TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik | 2020-09-01 | PMID 32504212
Joukhadar Reem, Hollaway Grant, Shi Fan and 12 more
Fibroblast growth factor 21 and grow differentiation factor 15 are sensitive biomarkers of mitochondrial diseases due to mitochondrial transfer-RNA mutations and mitochondrial DNA deletions.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology | 2020-12-01 | PMID 32504279
Formichi Patrizia, Cardone Nastasia, Taglia Ilaria and 10 more
Serrated adenomas with a BRAF mutation in a young patient with familial adenomatous polyposis.
International journal of colorectal disease | 2020-10-01 | PMID 32504335
Moriichi Kentaro, Tanabe Hiroki, Ono Yusuke and 13 more
Celiac Disease Screening for High-Risk Groups: Are We Doing It Right?
Digestive diseases and sciences | 2020-08-01 | PMID 32504350
Kumral Dennis, Syed Sana
Decrease of miR-125a-5p in Gastritis and Gastric Cancer and Its Possible Association with H. pylori.
Journal of gastrointestinal cancer | 2021-06-01 | PMID 32504357
Dos Santos Mônica Pezenatto, Pereira Jéssica Nunes, De Labio Roger Willian and 6 more
Germline Genetic Mutations in a Multi-center Contemporary Cohort of 550 Phyllodes Tumors: An Opportunity for Expanded Multi-gene Panel Testing.
Annals of surgical oncology | 2020-10-01 | PMID 32504368
Rosenberger Laura H, Thomas Samantha M, Nimbkar Suniti N and 10 more
Growth plate gene involment and isolated short stature.
Endocrine | 2021-01-01 | PMID 32504378
Faienza Maria Felicia, Chiarito Mariangela, Brunetti Giacomina and 1 more
GAA gene mutation detection following clinical evaluation and enzyme activity analysis in Azeri Turkish patients with Pompe disease.
Metabolic brain disease | 2020-10-01 | PMID 32504392
Gharesouran Jalal, Jalaiei Abbas, Hosseinzadeh Aida and 8 more
Molecular characterization of hepatitis B virus isolated from Black South African cancer patients, with and without hepatocellular carcinoma.
Archives of virology | 2020-08-01 | PMID 32504396
Mak Daniel, Kramvis Anna
Polymorphism in the 3'-UTR of LIF but Not in the ATF6B Gene Associates with Schizophrenia Susceptibility: a Case-Control Study and In Silico Analyses.
Journal of molecular neuroscience : MN | 2020-12-01 | PMID 32504404
Moudi Mahdiyeh, Sargazi Saman, Heidari Nia Milad and 3 more
Impact of interleukin IL-6 rs-1474347 and IL-10 rs-1800896 genetic polymorphisms on the susceptibility of HCV-infected Egyptian patients to hepatocellular carcinoma.
Immunologic research | 2020-06-01 | PMID 32504406
Abd El-Baky Reham M, Hetta Helal F, Koneru Gopala and 8 more
Clonal Origin Evaluated by Trunk and Branching Drivers and Prevalence of Mutations in Multiple Lung Tumor Nodules.
Molecular diagnosis & therapy | 2020-08-01 | PMID 32504414
Rodriguez Erika F, Tseng Li-Hui, De Marchi Federico and 7 more
Cystic Fibrosis Presenting as Pseudo-Bartter Syndrome: An Important Diagnosis that is Missed!
Indian journal of pediatrics | 2020-09-01 | PMID 32504456
Mantoo Mohsin Raj, Kabra Madhulika, Kabra S K
Pathological mutations in PNKP trigger defects in DNA single-strand break repair but not DNA double-strand break repair.
Nucleic acids research | 2020-07-09 | PMID 32504494
Kalasova Ilona, Hailstone Richard, Bublitz Janin and 5 more
Leaf traits and performance vary with plant age and water availability in Artemisia californica.
Annals of botany | 2021-03-24 | PMID 32504539
Funk Jennifer L, Larson Julie E, Vose Gregory
Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures.
American journal of human genetics | 2020-07-02 | PMID 32504544
Popejoy Alice B, Crooks Kristy R, Fullerton Stephanie M and 13 more
Prevalence and genetic diversity of avian haemosporidian parasites at an intersection point of bird migration routes: Sultan Marshes National Park, Turkey.
Acta tropica | 2020-10-01 | PMID 32504592
Ciloglu Arif, Ergen Arzu Gursoy, Inci Abdullah and 7 more
Exolysin (ExlA) from Pseudomonas aeruginosa Punctures Holes into Target Membranes Using a Molten Globule Domain.
Journal of molecular biology | 2020-07-24 | PMID 32504624
Bertrand Quentin, Job Viviana, Maillard Antoine P and 7 more
A novel fast-channel myasthenia caused by mutation in β subunit of AChR reveals subunit-specific contribution of the intracellular M1-M2 linker to channel gating.
Experimental neurology | 2020-09-01 | PMID 32504635
Shen Xin-Ming, Di Li, Shen Shelley and 5 more
Comparative genome analysis and characterization of a MDR Klebsiella variicola.
Genomics | 2020-09-01 | PMID 32504650
Srinivasan Vijaya Bharathi, Rajamohan Govindan
The contribution of WTAP gene variants to Wilms tumor susceptibility.
Gene | 2020-09-05 | PMID 32504654
Ma Li, Hua Rui-Xi, Lin Huiran and 9 more
Absence of ECG Task Force Criteria does not rule out structural changes in genotype positive ARVC patients.
International journal of cardiology | 2020-10-15 | PMID 32504717
Stokke Mathis K, Castrini Anna I, Aneq Meriam Åström and 9 more
Immune-related genes have prognostic significance in head and neck squamous cell carcinoma.
Life sciences | 2020-09-01 | PMID 32504750
Yang Jingrun, Xie Kuixia, Li Chengxin
Roles for Drosophila cap1 2'-O-ribose methyltransferase in the small RNA silencing pathway associated with Argonaute 2.
Insect biochemistry and molecular biology | 2020-08-01 | PMID 32504809
Lee Seungjae, Hong Jae-Sang, Lim Do-Hwan and 1 more
Ternary complex factor regulates pancreatic islet size and blood glucose homeostasis in transgenic mice.
Pharmacological research | 2020-09-01 | PMID 32504838
Lesch Andrea, Backes Tobias M, Langfermann Daniel S and 3 more
Bok choy (Brassica rapa) grown in copper oxide nanoparticles-amended soils exhibits toxicity in a phenotype-dependent manner: Translocation, biodistribution and nutritional disturbance.
Journal of hazardous materials | 2020-11-05 | PMID 32504955
Deng Chaoyi, Wang Yi, Cota-Ruiz Keni and 8 more
Could autism spectrum disorders be a risk factor for COVID-19?
Medical hypotheses | 2020-11-01 | PMID 32505067
Lima Matheus Eugênio de Sousa, Barros Levi Coelho Maia, Aragão Gislei Frota
Generation of human induced pluripotent stem cell (SKLRMi001-A) from a patient with partial androgen insensitivity syndrome (PAIS).
Stem cell research | 2020-07-01 | PMID 32505105
Chen Junqing, Yang Xiaoyu, Fu Bifei and 5 more
In vivo histopathological staging in C9orf72-associated ALS: A tract of interest DTI study.
NeuroImage. Clinical | 2020-01-01 | PMID 32505118
Müller Hans-Peter, Del Tredici Kelly, Lulé Dorothée and 4 more
Application of a recombinase polymerase amplification (RPA) assay and pilot field testing for Giardia duodenalis at Lake Albert, Uganda.
Parasites & vectors | 2020-06-06 | PMID 32505215
Molina-Gonzalez Sandra J, Bhattacharyya Tapan, AlShehri Hajri R and 8 more
Characterization of an anti-FLAG antibody binding protein in V. cholerae.
Biochemical and biophysical research communications | 2020-07-30 | PMID 32505345
Shin Jung-Ho, Lanz Michael, Smolka Marcus B and 1 more
A novel molecular mechanism responsible for phosphorylation-independent desensitization of G protein-coupled receptors exemplified by the dopamine D3 receptor.
Biochemical and biophysical research communications | 2020-07-30 | PMID 32505358
Zheng Mei, Zhang Xiaohan, Sun Ningning and 3 more
Pharmacogenetic-guided and clinical warfarin dosing algorithm assessments with bleeding outcomes risk-stratified by genetic and covariate subgroups.
International journal of cardiology | 2020-10-15 | PMID 32505370
Dietz Nicholas, Ruff Christian, Giugliano Robert P and 2 more
A genetic study of new udder health indicator traits with data from automatic milking systems.
Journal of dairy science | 2020-08-01 | PMID 32505398
Wethal K B, Svendsen M, Heringstad B
New mutation associated with autosomal dominant polycystic kidney disease with founder effect located in the alpujarra region of granada.
Nefrologia | 2000-01-01 | PMID 32505451
García-Rabaneda Carmen, Martínez-Atienza Margarita, Morales-García Ana I and 7 more
KCNT1-positive epilepsy of infancy with migrating focal seizures successfully treated with nonnarcotic antitussive drugs after treatment failure with quinidine: A case report.
Brain & development | 2020-09-01 | PMID 32505479
Takase Chihiro, Shirai Kentaro, Matsumura Yu and 7 more
Survey of patients with spinal muscular atrophy on the island of Shikoku, Japan.
Brain & development | 2020-09-01 | PMID 32505480
Okamoto Kentaro, Motoki Takahiro, Saito Isao and 26 more
Laboratory reporting on the clinical spectrum of CFTR p.Arg117His: Still room for improvement.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society | 2020-11-01 | PMID 32505523
Laudus Nele, Audrézet Marie-Pierre, Girodon Emmanuelle and 8 more
Detection and genotyping of Giardia duodenalis from cattle and pigs in Hualien country, Eastern Taiwan.
Journal of microbiology, immunology, and infection = Wei mian yu gan ran za zhi | 2021-08-01 | PMID 32505531
Lam Ho Yin Pekkle, Chen Tina Tu-Wen, Tseng Yu-Chuan and 3 more
Mutation of DELAYED GREENING1 impairs chloroplast RNA editing at elevated ambient temperature in Arabidopsis.
Journal of genetics and genomics = Yi chuan xue bao | 2020-04-20 | PMID 32505546
Sun Jingliang, Tian Yingying, Lian Qichao and 1 more
Classical and Nonclassical Intercellular Communication in Senescence and Ageing.
Trends in cell biology | 2020-08-01 | PMID 32505550
Fafián-Labora Juan Antonio, O'Loghlen Ana
Contralateral breast cancer and tumor recurrence in BRCA1/2 carriers and non-carriers at a high risk of hereditary breast cancer after bilateral mastectomy.
Cirugia espanola | 2020-12-01 | PMID 32505558
Allué Cabañuz Marta, Domingo Bretón María, Chóliz Ezquerro Jorge and 2 more
Presentation and Follow-up of Familial Adenomatous Polyposis: Differences Between APC and MUTYH Mutations.
Cirugia espanola | 2020-10-01 | PMID 32505560
Bademci Refik, Bollo Jesús, Ramón Y Cajal Teresa and 3 more
An iRGD peptide fused superantigen mutant induced tumor-targeting and T lymphocyte infiltrating in cancer immunotherapy.
International journal of pharmaceutics | 2020-08-30 | PMID 32505575
Song Yubo, Xu Mingkai, Li Yongqiang and 6 more
Resistance to thyroid hormone due to a novel THRB p.Val349Ala mutation in a Taiwanese boy.
Journal of the Formosan Medical Association = Taiwan yi zhi | 2020-10-01 | PMID 32505587
Liu Zhen, Tsai Wen-Yu, Lee Cheng-Ting
Resection of a desmoid-type fibromatosis with a CTNNB1 p.S45P mutation using a cervico-thoracic approach: A case report and literature review.
Auris, nasus, larynx | 2021-08-01 | PMID 32505607
Sato Ryosuke, Bandoh Nobuyuki, Goto Takashi and 9 more
Treatment of Patients With Non-Small-Cell Lung Cancer Harboring Rare Oncogenic Mutations.
Clinical lung cancer | 2020-09-01 | PMID 32505631
Marmarelis Melina E, Langer Corey J
Analysis of Progression Patterns and Failure Sites of Patients With Metastatic Lung Adenocarcinoma With EGFR Mutations Receiving First-line Treatment of Tyrosine Kinase Inhibitors.
Clinical lung cancer | 2020-11-01 | PMID 32505632
Li Xiao-Yang, Zhu Xue-Ru, Zhang Chen-Chen and 5 more
Optimal processing for proteomic genotyping of single human hairs.
Forensic science international. Genetics | 2020-07-01 | PMID 32505640
Goecker Zachary C, Salemi Michelle R, Karim Noreen and 3 more
Tectal Low-Grade Glioma with H3 K27M Mutation.
World neurosurgery | 2020-09-01 | PMID 32505657
Sumi Koichiro, Shijo Katsunori, Igarashi Takahiro and 7 more
Molecular analysis of several in-house rRT-PCR protocols for SARS-CoV-2 detection in the context of genetic variability of the virus in Colombia.
Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases | 2020-10-01 | PMID 32505692
Álvarez-Díaz Diego A, Franco-Muñoz Carlos, Laiton-Donato Katherine and 10 more
Detection of African genotype in Hyalomma tick pools during Crimean Congo hemorrhagic fever outbreak, Rajasthan, India, 2019.
Virus research | 2020-09-01 | PMID 32505728
Sahay Rima R, Dhandore Suhas, Yadav Pragya D and 22 more
PPARγ gene Pro12Ala variants reduce the risk of obese individuals to non-alcoholic fatty liver: A study in Uygur Chinese population residing in Northwestern China.
Clinics and research in hepatology and gastroenterology | 2020-11-01 | PMID 32505733
Su Yinxia, Liu Zhenhui, Yang Lei and 4 more
Clinical and Molecular Correlates of Tumor Mutation Burden in Non-Small Cell Lung Cancer.
Lung cancer (Amsterdam, Netherlands) | 2020-08-01 | PMID 32505734
Sharpnack Michael F, Cho Ju Hwan, Johnson Travis S and 5 more
Newborn screening for isovaleric acidemia in Quanzhou, China.
Clinica chimica acta; international journal of clinical chemistry | 2020-10-01 | PMID 32505769
Lin Yiming, Chen Dongmei, Peng Weilin and 6 more
A 16-plex Y-SNP typing system based on allele-specific PCR for the genotyping of Chinese Y-chromosomal haplogroups.
Legal medicine (Tokyo, Japan) | 2020-09-01 | PMID 32505804
Zhou Zhihan, Zhou Yuxiang, Yao Yining and 8 more
Common polymorphisms in MC4R and FTO genes are associated with BMI and metabolic indicators in Mexican children: Differences by sex and genetic ancestry.
Gene | 2020-09-05 | PMID 32505845
López-Rodríguez Guadalupe, Estrada-Neria Alin, Suárez-Diéguez Teodoro and 3 more
Intestinal stem cells heterogeneity and clonal dominance during aging: two faces of the same coin?
Mechanisms of ageing and development | 2020-07-01 | PMID 32505859
Sirvinskas Dovydas, Annunziata Francesco, Neri Francesco
Generation of human induced pluripotent stem cell line (NIDCRi001-A) from a Muenke syndrome patient with an FGFR3 p.Pro250Arg mutation.
Stem cell research | 2020-07-01 | PMID 32505898
Mui Byron W H, Arora Deepika, Mallon Barbara S and 6 more
Co-Existence of Congenital Adrenal Hyperplasia and Bartter Syndrome due to Maternal Uniparental Isodisomy of HSD3B2 and CLCNKB Mutations.
Hormone research in paediatrics | 2020-01-01 | PMID 32506065
Giri Dinesh, Bockenhauer Detlef, Deshpande Charu and 6 more
Degradation of low-density poly ethylene (LDPE) by Enterobacter cloacae AKS7: a potential step towards sustainable environmental remediation.
Archives of microbiology | 2020-10-01 | PMID 32506149
Sarker Ranojit Kumar, Chakraborty Poulomi, Paul Payel and 2 more
Male adnexal tumor of probable Wolffian origin: a new entity in males similar to female adnexal tumor of probable Wolffian origin.
Virchows Archiv : an international journal of pathology | 2021-02-01 | PMID 32506155
Kanaan Christina, Genestie Catherine, Just Pierre-Alexandre and 1 more
Missense Variants in Hypoxia-Induced VEGFA/VEGFR2 Signaling Predict the Outcome of Large Artery Atherosclerotic Stroke.
Cellular and molecular neurobiology | 2021-08-01 | PMID 32506171
Li Zibao, Wang Mengmeng, Gu Jinyu and 4 more
Analytical validation of a novel targeted next-generation sequencing assay for mutation detection in thyroid nodule aspirates and tissue.
Endocrine | 2020-08-01 | PMID 32506194
Verrienti Antonella, Pecce Valeria, Abballe Luana and 11 more
Genome-wide association studies using 50 K rice genic SNP chip unveil genetic architecture for anaerobic germination of deep-water rice population of Assam, India.
Molecular genetics and genomics : MGG | 2020-09-01 | PMID 32506235
Rohilla Megha, Singh Nisha, Mazumder Abhishek and 5 more
Genome-wide association analysis reveals the genetic locus for high reproduction trait in Chinese Arbas Cashmere goat.
Genes & genomics | 2020-08-01 | PMID 32506265
Islam Rabiul, Liu Xuexue, Gebreselassie Gebremedhin and 3 more
Identification and characterization of the stunted sterile (ss) mutant in rice.
Genes & genomics | 2020-08-01 | PMID 32506267
Son Hyekyung, Kim Backki, Lee Gileung and 3 more
A novel nonsense mutation in NPR2 gene causing Acromesomelic dysplasia, type Maroteaux in a consanguineous family in Southern Punjab (Pakistan).
Genes & genomics | 2020-08-01 | PMID 32506268
Mustafa Saima, Akhtar Zafrin, Latif Muhammad and 3 more
Association mapping of malting quality traits in UK spring and winter barley cultivar collections.
TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik | 2020-09-01 | PMID 32506274
Looseley Mark E, Ramsay Luke, Bull Hazel and 7 more
Systemic lupus erythematosus in a girl with PTEN variant and transaldolase deficiency: a novel phenotype.
Clinical rheumatology | 2020-11-01 | PMID 32506314
Al-Mayouf Sulaiman M, AlTassan Ruqaiah S, AlOwain Mohammed A
Diffuse follicular lymphoma variant with a typical diagnostic pattern and an unusually aggressive clinical presentation.
International journal of hematology | 2020-08-01 | PMID 32506320
Martín-Moro Fernando, Marquet-Palomanes Juan, Piris-Villaespesa Miguel and 2 more
Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity.
Journal of clinical immunology | 2020-07-01 | PMID 32506361
Okano Tsubasa, Imai Kohsuke, Naruto Takuya and 17 more
Clinical Phenotypes and Immunological Characteristics of 18 Egyptian LRBA Deficiency Patients.
Journal of clinical immunology | 2020-08-01 | PMID 32506362
Meshaal Safa, El Hawary Rabab, Adel Rana and 15 more
Bartter syndrome representing digenic-based salt-losing tubulopathies presumably accelerated by renal insufficiency.
CEN case reports | 2020-11-01 | PMID 32506365
Umene Ryusuke, Kitamura Mineaki, Arai Hideyuki and 9 more
Detection of Low-level EGFR c.2369 C > T (p.Thr790Met) Resistance Mutation in Pre-treatment Non-small Cell Lung Carcinomas Harboring Activating EGFR Mutations and Correlation with Clinical Outcomes.
Pathology oncology research : POR | 2020-10-01 | PMID 32506395
Ye Linda, Mesbah Ardakani Nima, Thomas Carla and 4 more
Clinical, environmental and histological distribution of BRAF, NRAS and TERT promoter mutations among patients with cutaneous melanoma: a retrospective study of 563 patients.
The British journal of dermatology | 2021-03-01 | PMID 32506424
Manrique-Silva E, Rachakonda S, Millán-Esteban D and 5 more
Synovial chondrosarcoma: a single-institution experience with molecular investigations and review of the literature.
Histopathology | 2020-09-01 | PMID 32506447
Gambarotti Marco, Pacheco Marina, Ruengwanichayakun Poosit and 10 more
Late diagnosis of chronic granulomatous disease.
Clinical and experimental immunology | 2020-09-01 | PMID 32506450
Barkai T, Somech R, Broides A and 5 more
Genotype-phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review.
Clinical genetics | 2021-01-01 | PMID 32506467
Mariath Luiza Monteavaro, Santin Juliana Tosetto, Frantz Jeanine Aparecida and 3 more
Cross-sectional study reveals that HLA-C*07:02 is a potential biomarker of early onset/lesion severity of psoriasis.
Experimental dermatology | 2020-07-01 | PMID 32506489
Li Junqin, Li Xiaofang, He Fusheng and 10 more
Promising effect of intravenous immunoglobulin therapy for epidermolysis bullosa pruriginosa.
International journal of dermatology | 2020-07-01 | PMID 32506551
Ertop Pelin, Vural Secil, Gökpınar Ili Ezgi and 5 more
Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element.
Movement disorders : official journal of the Movement Disorder Society | 2020-08-01 | PMID 32506582
Cassinari Kévin, Rovelet-Lecrux Anne, Tury Sandrine and 16 more
Diagnostic yield of targeted sequential and massive panel approaches for inherited neuropathies.
Clinical genetics | 2020-08-01 | PMID 32506583
Padilha Janice Pacheco Dias, Brasil Carolina Serpa, Hoefel Alice Maria Luderitz and 4 more
Thymus aging in mice deficient in either EphB2 or EphB3, two master regulators of thymic epithelium development.
Developmental dynamics : an official publication of the American Association of Anatomists | 2020-10-01 | PMID 32506584
García-Ceca Javier, Montero-Herradón Sara, Zapata Agustín G
RNA sequencing of plasma exosomes revealed novel functional long noncoding RNAs in hepatocellular carcinoma.
Cancer science | 2020-09-01 | PMID 32506598
Huang Xuejing, Sun Liyuan, Wen Sha and 12 more
Spliceosomopathies: Diseases and mechanisms.
Developmental dynamics : an official publication of the American Association of Anatomists | 2020-09-01 | PMID 32506634
Griffin Casey, Saint-Jeannet Jean-Pierre
Two classic mutations in the linker-helix IIL45 and segment IIS6 of Apolygus lucorum sodium channel confer pyrethroid resistance.
Pest management science | 2020-12-01 | PMID 32506650
Wang Likui, Lin Lianyun, Wang Hao and 6 more