Sarcoidosis: A Clinical Overview from Symptoms to Diagnosis.
Cells | 2021-03-31 | PMID 33807303
Sève Pascal, Pacheco Yves, Durupt François and 8 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 8520 of 10600
D-Mannitol Induces a Brown Fat-like Phenotype via a β3-Adrenergic Receptor-Dependent Mechanism.
Cells | 2021-03-31 | PMID 33807329
Jeon Hui-Jeon, Choi Dong Kyu, Choi JaeHeon and 4 more
HIV-1 Subtype C Drug Resistance Mutations in Heavily Treated Patients Failing Integrase Strand Transfer Inhibitor-Based Regimens in Botswana.
Viruses | 2021-03-31 | PMID 33807382
Seatla Kaelo K, Maruapula Dorcas, Choga Wonderful T and 13 more
High Heterogeneity of Echoviruses in Brazilian Children with Acute Gastroenteritis.
Viruses | 2021-03-31 | PMID 33807396
do Socorro Fôro Ramos Endrya, Rosa Ulisses Alves, de Oliveira Ribeiro Geovani and 12 more
Upregulated Angiogenesis Is Incompetent to Rescue Dilated Cardiomyopathy Phenotype in Mice.
Cells | 2021-03-31 | PMID 33807406
Arif Mohammed, Alam Perwez, Ahmed Rafeeq Ph and 3 more
Sex-Related Differences in Chronic Myeloid Neoplasms: From the Clinical Observation to the Underlying Biology.
International journal of molecular sciences | 2021-03-05 | PMID 33807519
Karantanos Theodoros, Jain Tania, Moliterno Alison R and 2 more
A Systematic Review of Genetic Polymorphisms Associated with Binge Eating Disorder.
Nutrients | 2021-03-05 | PMID 33807560
Manfredi Lucia, Accoto Alessandra, Couyoumdjian Alessandro and 1 more
First Case Report of Maternal Mosaic Tetrasomy 9p Incidentally Detected on Non-Invasive Prenatal Testing.
Genes | 2021-03-05 | PMID 33807602
Shu Wendy, Cheng Shirley S W, Xue Shuwen and 5 more
Allele-Specific Knockout by CRISPR/Cas to Treat Autosomal Dominant Retinitis Pigmentosa Caused by the G56R Mutation in NR2E3.
International journal of molecular sciences | 2021-03-05 | PMID 33807610
Diakatou Michalitsa, Dubois Gregor, Erkilic Nejla and 3 more
The Effects of Childhood Maltreatment on Non-Suicidal Self-Injury in Male Adolescents: The Moderating Roles of the Monoamine Oxidase A (MAOA) Gene and the Catechol-O-Methyltransferase (COMT) Gene.
International journal of environmental research and public health | 2021-03-05 | PMID 33807669
Gao Yemiao, Xiong Yuke, Liu Xia and 1 more
Potential Genetic Contributions of the Central Nervous System to a Predisposition to Elite Athletic Traits: State-of-the-Art and Future Perspectives.
Genes | 2021-03-05 | PMID 33807752
Kitazawa Hiroya, Hasegawa Kazuya, Aruga Daichi and 1 more
Population-Predicted MHC Class II Epitope Presentation of SARS-CoV-2 Structural Proteins Correlates to the Case Fatality Rates of COVID-19 in Different Countries.
International journal of molecular sciences | 2021-03-05 | PMID 33807854
Liang Chunguang, Bencurova Elena, Psota Eric and 4 more
The Unique Biology behind the Early Onset of Breast Cancer.
Genes | 2021-03-05 | PMID 33807872
Siddig Alaa, Tengku Din Tengku Ahmad Damitri Al-Astani, Mohd Nafi Siti Norasikin and 3 more
Novel Emerging Molecular Targets in Non-Small Cell Lung Cancer.
International journal of molecular sciences | 2021-03-05 | PMID 33807876
Rebuzzi Sara Elena, Zullo Lodovica, Rossi Giovanni and 12 more
The Role of Immunogenetics in COVID-19.
International journal of molecular sciences | 2021-03-05 | PMID 33807915
Pojero Fanny, Candore Giuseppina, Caruso Calogero and 5 more
Genetic Variation in the Domain II, 3' Untranslated Region of Human and Mosquito Derived Dengue Virus Strains in Sri Lanka.
Viruses | 2021-03-05 | PMID 33807922
Dayananda P D, de Silva Harendra, Fernando LakKumar and 1 more
Novel Homozygous Mutations in the Genes TGM1, SULT2B1, SPINK5 and FLG in Four Families Underlying Congenital Ichthyosis.
Genes | 2021-03-05 | PMID 33807935
Fozia Fozia, Nazli Rubina, Alam Khan Sher and 9 more
Sitosterolemia: Twenty Years of Discovery of the Function of ABCG5ABCG8.
International journal of molecular sciences | 2021-03-05 | PMID 33807969
Williams Kori, Segard Allison, Graf Gregory A
Therapeutic Targeting of the NRF2 Signaling Pathway in Cancer.
Molecules (Basel, Switzerland) | 2021-03-05 | PMID 33808001
Telkoparan-Akillilar Pelin, Panieri Emiliano, Cevik Dilek and 2 more
Seroprevalence of Infection with Feline Morbilliviruses Is Associated with FLUTD and Increased Blood Creatinine Concentrations in Domestic Cats.
Viruses | 2021-03-30 | PMID 33808115
Busch Johannes, Heilmann Romy M, Vahlenkamp Thomas W and 1 more
Defining Phenotype, Tropism, and Retinal Gene Therapy Using Adeno-Associated Viral Vectors (AAVs) in New-Born Brown Norway Rats with a Spontaneous Mutation in Crb1.
International journal of molecular sciences | 2021-03-30 | PMID 33808129
Boon Nanda, Alves C Henrique, Mulder Aat A and 7 more
DEEPGENTM-A Novel Variant Calling Assay for Low Frequency Variants.
Genes | 2021-03-30 | PMID 33808158
Hermann Bernd Timo, Pfeil Sebastian, Groenke Nicole and 5 more
Identification of Candidate Genes for Root Traits Using Genotype-Phenotype Association Analysis of Near-Isogenic Lines in Hexaploid Wheat (Triticum aestivum L.).
International journal of molecular sciences | 2021-03-30 | PMID 33808237
Halder Tanushree, Liu Hui, Chen Yinglong and 2 more
The Major Ciliary Isoforms of RPGR Build Different Interaction Complexes with INPP5E and RPGRIP1L.
International journal of molecular sciences | 2021-03-30 | PMID 33808286
Vössing Christine, Atigbire Paul, Eilers Jannis and 4 more
Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism.
Genes | 2021-03-30 | PMID 33808351
Chan Hwei Wuen, Schiff Elena R, Tailor Vijay K and 4 more
GmNF-YC4-2 Increases Protein, Exhibits Broad Disease Resistance and Expedites Maturity in Soybean.
International journal of molecular sciences | 2021-03-30 | PMID 33808355
O'Conner Seth, Zheng Wenguang, Qi Mingsheng and 4 more
Allosteric Kinase Inhibitors Reshape MEK1 Kinase Activity Conformations in Cells and In Silico.
Biomolecules | 2021-03-30 | PMID 33808483
Fleischmann Jakob, Feichtner Andreas, DeFalco Louis and 4 more
Vitamin D Deficiency Induces Chronic Pain and Microglial Phenotypic Changes in Mice.
International journal of molecular sciences | 2021-03-30 | PMID 33808491
Alessio Nicola, Belardo Carmela, Trotta Maria Consiglia and 11 more
Transcriptome Analysis Unravels Key Factors Involved in Response to Potassium Deficiency and Feedback Regulation of K+ Uptake in Cotton Roots.
International journal of molecular sciences | 2021-03-19 | PMID 33808570
Yang Doudou, Li Fangjun, Yi Fei and 3 more
Genetic Variation of the Serine Acetyltransferase Gene Family for Sulfur Assimilation in Maize.
Genes | 2021-03-19 | PMID 33808582
Zhao Zhixuan, Li Shuai, Ji Chen and 3 more
The Interactome between Metabolism and Gene Mutations in Myeloid Malignancies.
International journal of molecular sciences | 2021-03-19 | PMID 33808599
Gurnari Carmelo, Pagliuca Simona, Visconte Valeria
Combined Transcriptome Analysis Reveals the Ovule Abortion Regulatory Mechanisms in the Female Sterile Line of Pinus tabuliformis Carr.
International journal of molecular sciences | 2021-03-19 | PMID 33808669
Gong Zaixin, Han Rui, Xu Li and 6 more
Melanin Distribution in Human Skin: Influence of Cytoskeletal, Polarity, and Centrosome-Related Machinery of Stratum basale Keratinocytes.
International journal of molecular sciences | 2021-03-19 | PMID 33808676
Castellano-Pellicena Irene, Morrison Ciaran G, Bell Mike and 2 more
Aromatic Amino Acid Decarboxylase Deficiency: The Added Value of Biochemistry.
International journal of molecular sciences | 2021-03-19 | PMID 33808712
Montioli Riccardo, Borri Voltattorni Carla
Comparative Analysis of Within-Host Mutation Patterns and Diversity of Hepatitis C Virus Subtypes 1a, 1b, and 3a.
Viruses | 2021-03-19 | PMID 33808782
Tisthammer Kaho H, Dong Weiyan, Joy Jeffrey B and 1 more
Metabolomic Variation Aligns with Two Geographically Distinct Subpopulations of Brachypodium Distachyon before and after Drought Stress.
Cells | 2021-03-19 | PMID 33808796
Skalska Aleksandra, Beckmann Manfred, Corke Fiona and 5 more
Roles of Plant Growth-Promoting Rhizobacteria (PGPR) in Stimulating Salinity Stress Defense in Plants: A Review.
International journal of molecular sciences | 2021-03-19 | PMID 33808829
Ha-Tran Dung Minh, Nguyen Trinh Thi My, Hung Shih-Hsun and 2 more
Roma Socioeconomic Status Has a Higher Impact on Smoking Behaviour than Genetic Susceptibility.
International journal of environmental research and public health | 2021-03-19 | PMID 33808833
Merzah Mohammed, Kósa Zsigmond, Sándor János and 4 more
Early-Transmitted Variants and Their Evolution in a HIV-1 Positive Couple: NGS and Phylogenetic Analyses.
Viruses | 2021-03-19 | PMID 33808903
Lai Alessia, Giacomet Vania, Bergna Annalisa and 5 more
The Decisive Case-Control Study Elaborates the Null Association between ESR1 XbaI and Osteoarthritis in Asians: A Case-Control Study and Meta-Analysis.
Genes | 2021-03-12 | PMID 33808990
Huang Yu-Hao, Fang Wen-Hui, Tsai Dung-Jang and 7 more
The Role of Single-Nucleotide Variants of NOS1, NOS2, and NOS3 Genes in the Comorbidity of Arterial Hypertension and Tension-Type Headache.
Molecules (Basel, Switzerland) | 2021-03-12 | PMID 33809023
Shnayder Natalia A, Petrova Marina M, Moskaleva Polina V and 3 more
The Uncovered Function of the Drosophila GBA1a-Encoded Protein.
Cells | 2021-03-12 | PMID 33809074
Cabasso Or, Paul Sumit, Maor Gali and 4 more
Clinical, Pathological and Molecular Characteristics of Chilean Patients with Early-, Intermediate- and Late-Onset Colorectal Cancer.
Cells | 2021-03-12 | PMID 33809084
Alvarez Karin, Cassana Alessandra, De La Fuente Marjorie and 3 more
KLF15 Loss-of-Function Mutation Underlying Atrial Fibrillation as well as Ventricular Arrhythmias and Cardiomyopathy.
Genes | 2021-03-12 | PMID 33809104
Li Ning, Xu Ying-Jia, Shi Hong-Yu and 6 more
Identification of SNPs Associated with Stress Response Traits within High Stress and Low Stress Lines of Japanese Quail.
Genes | 2021-03-12 | PMID 33809122
Shumaker Steven, Khatri Bhuwan, Shouse Stephanie and 4 more
Evaluation of a Custom Design Gene Panel as a Diagnostic Tool for Human Non-Syndromic Infertility.
Genes | 2021-03-12 | PMID 33809228
Okutman Ozlem, Tarabeux Julien, Muller Jean and 1 more
Novel Genetic Rearrangements in Hepatitis B Virus: Complex Structural Variations and Structural Variation Polymorphisms.
Viruses | 2021-03-12 | PMID 33809245
Fujiwara Kei
A Novel Truncating Mutation in HOMER2 Causes Nonsyndromic Progressive DFNA68 Hearing Loss in a Spanish Family.
Genes | 2021-03-12 | PMID 33809266
Lachgar María, Morín Matías, Villamar Manuela and 2 more
Traces of Late Bronze and Early Iron Age Mongolian Horse Mitochondrial Lineages in Modern Populations.
Genes | 2021-03-12 | PMID 33809280
Kusliy Mariya A, Vorobieva Nadezhda V, Tishkin Alexey A and 5 more
The Discovery of Endoplasmic Reticulum Storage Disease. The Connection between an H&E Slide and the Brain.
International journal of molecular sciences | 2021-03-12 | PMID 33809321
Callea Francesco, Desmet Valeer
The Vps13 Family of Lipid Transporters and Its Role at Membrane Contact Sites.
International journal of molecular sciences | 2021-03-12 | PMID 33809364
Dziurdzik Samantha Katarzyna, Conibear Elizabeth
Multiple Sclerosis-Associated hnRNPA1 Mutations Alter hnRNPA1 Dynamics and Influence Stress Granule Formation.
International journal of molecular sciences | 2021-03-12 | PMID 33809384
Clarke Joseph-Patrick W E, Thibault Patricia A, Salapa Hannah E and 3 more
A Modified Actin (Gly65Val Substitution) Expressed in Cotton Disrupts Polymerization of Actin Filaments Leading to the Phenotype of Ligon Lintless-1 (Li1) Mutant.
International journal of molecular sciences | 2021-03-16 | PMID 33809404
Cao Yuefen, Huang Hui, Yu Yanjun and 9 more
Molecular Alterations in Sporadic and SOD1-ALS Immortalized Lymphocytes: Towards a Personalized Therapy.
International journal of molecular sciences | 2021-03-16 | PMID 33809456
Lastres-Becker Isabel, Porras Gracia, Arribas-Blázquez Marina and 7 more
Molecular Evolution of Infectious Pancreatic Necrosis Virus in China.
Viruses | 2021-03-16 | PMID 33809489
Duan Kaiyue, Zhao Jingzhuang, Ren Guangming and 6 more
Mechanisms of Neurodegeneration in Various Forms of Parkinsonism-Similarities and Differences.
Cells | 2021-03-16 | PMID 33809527
Koziorowski Dariusz, Figura Monika, Milanowski Łukasz M and 4 more
Association between HOX Transcript Antisense RNA Single-Nucleotide Variants and Recurrent Implantation Failure.
International journal of molecular sciences | 2021-03-16 | PMID 33809601
Lee Jeong Yong, Ahn Eun Hee, Park Hyeon Woo and 4 more
If Virchow and Ehrlich Had Dreamt Together: What the Future Holds for KRAS-Mutant Lung Cancer.
International journal of molecular sciences | 2021-03-16 | PMID 33809660
Köhler Jens, Jänne Pasi A
Simple Models to Study Spectral Properties of Microbial and Animal Rhodopsins: Evaluation of the Electrostatic Effect of Charged and Polar Residues on the First Absorption Band Maxima.
International journal of molecular sciences | 2021-03-16 | PMID 33809708
Shtyrov Andrey A, Nikolaev Dmitrii M, Mironov Vladimir N and 4 more
Role of Oxidative Stress in the Pathogenesis of Amyotrophic Lateral Sclerosis: Antioxidant Metalloenzymes and Therapeutic Strategies.
Biomolecules | 2021-03-16 | PMID 33809730
Hemerková Pavlína, Vališ Martin
The Serine Biosynthesis of Paenibacillus polymyxa WLY78 Is Regulated by the T-Box Riboswitch.
International journal of molecular sciences | 2021-03-16 | PMID 33809732
Zhang Haowei, Li Qin, Li Yongbin and 1 more
A High-Throughput Screening System Based on Fluorescence-Activated Cell Sorting for the Directed Evolution of Chitinase A.
International journal of molecular sciences | 2021-03-16 | PMID 33809788
Menghiu Gheorghita, Ostafe Vasile, Prodanović Radivoje and 2 more
CaDHN3, a Pepper (Capsicum annuum L.) Dehydrin Gene Enhances the Tolerance against Salt and Drought Stresses by Reducing ROS Accumulation.
International journal of molecular sciences | 2021-03-22 | PMID 33809823
Meng Yuan-Cheng, Zhang Hua-Feng, Pan Xiao-Xiao and 5 more
An Integrative Transcriptome-Wide Analysis of Amyotrophic Lateral Sclerosis for the Identification of Potential Genetic Markers and Drug Candidates.
International journal of molecular sciences | 2021-03-22 | PMID 33809961
Park Sungmin, Kim Daeun, Song Jaeseung and 1 more
CRISPR/Cas9 Guided Mutagenesis of Grain Size 3 Confers Increased Rice (Oryza sativa L.) Grain Length by Regulating Cysteine Proteinase Inhibitor and Ubiquitin-Related Proteins.
International journal of molecular sciences | 2021-03-22 | PMID 33810044
Usman Babar, Zhao Neng, Nawaz Gul and 4 more
Transglycosylation Activity of Engineered Bifidobacterium Lacto-N-Biosidase Mutants at Donor Subsites for Lacto-N-Tetraose Synthesis.
International journal of molecular sciences | 2021-03-22 | PMID 33810098
Castejón-Vilatersana Mireia, Faijes Magda, Planas Antoni
Transient Receptor Potential (TRP) Channels in the Pacific Oyster (Crassostrea gigas): Genome-Wide Identification and Expression Profiling after Heat Stress between C. gigas and C. angulata.
International journal of molecular sciences | 2021-03-22 | PMID 33810107
Fu Huiru, Jiao Zexin, Li Yongjing and 5 more
Noninvasive Prenatal Paternity Testing with a Combination of Well-Established SNP and STR Markers Using Massively Parallel Sequencing.
Genes | 2021-03-22 | PMID 33810139
Shen Xuefeng, Li Ran, Li Haixia and 6 more
Energy Metabolism in IDH1 Wild-Type and IDH1-Mutated Glioblastoma Stem Cells: A Novel Target for Therapy?
Cells | 2021-03-22 | PMID 33810170
van Noorden Cornelis J F, Hira Vashendriya V V, van Dijck Amber J and 3 more
Analysis of HPV Integrations in Mexican Pre-Tumoral Cervical Lesions Reveal Centromere-Enriched Breakpoints and Abundant Unspecific HPV Regions.
International journal of molecular sciences | 2021-03-22 | PMID 33810183
Garza-Rodríguez María Lourdes, Oyervides-Muñoz Mariel Araceli, Pérez-Maya Antonio Alí and 8 more
Solid Pseudopapillary Neoplasm of the Pancreas and Abdominal Desmoid Tumor in a Patient Carrying Two Different BRCA2 Germline Mutations: New Horizons from Tumor Molecular Profiling.
Genes | 2021-03-26 | PMID 33810291
Mafficini Andrea, Lawlor Rita T, Ghimenton Claudio and 11 more
Inhibition of Soluble Epoxide Hydrolase Ameliorates Phenotype and Cognitive Abilities in a Murine Model of Niemann Pick Type C Disease.
International journal of molecular sciences | 2021-03-26 | PMID 33810307
Griñán-Ferré Christian, Companys-Alemany Júlia, Jarné-Ferrer Júlia and 7 more
Influence of ACE Gene I/D Polymorphism on Cardiometabolic Risk, Maximal Fat Oxidation, Cardiorespiratory Fitness, Diet and Physical Activity in Young Adults.
International journal of environmental research and public health | 2021-03-26 | PMID 33810312
Montes-de-Oca-García Adrián, Perez-Bey Alejandro, Velázquez-Díaz Daniel and 7 more
Eltrombopag Improves Erythroid Differentiation in a Human Induced Pluripotent Stem Cell Model of Diamond Blackfan Anemia.
Cells | 2021-03-26 | PMID 33810313
Qanash Husam, Li Yongqin, Smith Richard H and 7 more
Regulation of Fruit Growth in a Peach Slow Ripening Phenotype.
Genes | 2021-03-26 | PMID 33810423
Farinati Silvia, Forestan Cristian, Canton Monica and 3 more
Generation of a Novel Nkx6-1 Venus Fusion Reporter Mouse Line.
International journal of molecular sciences | 2021-03-26 | PMID 33810480
Burtscher Ingo, Tarquis-Medina Marta, Salinno Ciro and 4 more
Identification of a Novel Cis-Acting Regulator of HIV-1 Genome Packaging.
International journal of molecular sciences | 2021-03-26 | PMID 33810482
Sakuragi Sayuri, Kotani Osamu, Yokoyama Masaru and 3 more
Genotyping by Sequencing Reveals Genetic Relatedness of Southwestern U.S. Blue Maize Landraces.
International journal of molecular sciences | 2021-03-26 | PMID 33810494
Nankar Amol N, Pratt Richard C
Annexin Animal Models-From Fundamental Principles to Translational Research.
International journal of molecular sciences | 2021-03-26 | PMID 33810523
Grewal Thomas, Rentero Carles, Enrich Carlos and 3 more
Control of Protein and Energy Metabolism in the Pituitary Gland in Response to Three-Week Running Training in Adult Male Mice.
Cells | 2021-03-26 | PMID 33810540
Walz Christina, Brenmoehl Julia, Trakooljul Nares and 7 more
Novel GRHL2 Gene Variant Associated with Hearing Loss: A Case Report and Review of the Literature.
Genes | 2021-03-26 | PMID 33810548
Trebusak Podkrajsek Katarina, Tesovnik Tine, Bozanic Urbancic Nina and 1 more
Clinical and Molecular Diagnosis of Beckwith-Wiedemann Syndrome with Single- or Multi-Locus Imprinting Disturbance.
International journal of molecular sciences | 2021-03-26 | PMID 33810554
Fontana Laura, Tabano Silvia, Maitz Silvia and 5 more
Construction of a Full-Length cDNA Over-Expressing Library to Identify Valuable Genes from Populus tomentosa.
International journal of molecular sciences | 2021-03-26 | PMID 33810585
Kong Lingfei, Li Zeyu, Song Qin and 2 more
Household mold exposure interacts with inflammation-related genetic variants on childhood asthma: a case-control study.
BMC pulmonary medicine | 2021-04-02 | PMID 33810791
Zhang Yu, Hua Li, Liu Quan-Hua and 6 more
New advances in Amyotrophic Lateral Sclerosis genetics: Towards gene therapy opportunities for familial and young cases.
Revue neurologique | 2021-05-01 | PMID 33810837
Amador M-D-M, Muratet F, Teyssou E and 2 more
Association between MBOAT7 rs641738 polymorphism and non-alcoholic fatty liver in overweight or obese children.
Nutrition, metabolism, and cardiovascular diseases : NMCD | 2021-05-06 | PMID 33810963
Zusi C, Morandi A, Maguolo A and 9 more
rs629301 CELSR2 polymorphism confers a ten-year equivalent risk of critical stenosis assessed by coronary angiography.
Nutrition, metabolism, and cardiovascular diseases : NMCD | 2021-05-06 | PMID 33810964
Noto Davide, Cefalù Angelo B, Martinelli Nicola and 16 more
The APOB polymorphism rs1801701 A/G (p.R3638Q) is an independent risk factor for early-onset coronary artery disease: Data from a Spanish cohort.
Nutrition, metabolism, and cardiovascular diseases : NMCD | 2021-05-06 | PMID 33810965
Coto Eliecer, Lorca Rebeca, Rodríguez-Reguero Julián and 11 more
Cnngeno: A high-precision deep learning based strategy for the calling of structural variation genotype.
Computational biology and chemistry | 2021-10-01 | PMID 33810991
Bai Ruofei, Ling Cheng, Cai Lei and 1 more
A LysR Family Transcriptional Regulator Modulates Burkholderia cenocepacia Biofilm Formation and Protease Production.
Applied and environmental microbiology | 2021-05-26 | PMID 33811025
Wang Kai, Li Xia, Yang Chunxi and 4 more
Association of polymorphisms in ZFHX1B, KCNQ5 and GJD2 with myopia progression and polygenic risk prediction in children.
The British journal of ophthalmology | 2021-12-01 | PMID 33811038
Chen Li Jia, Li Fen Fen, Lu Shi Yao and 9 more
A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy.
Cold Spring Harbor molecular case studies | 2021-06-01 | PMID 33811063
Briere Lauren C, Walker Melissa A, High Frances A and 15 more
Optimized sample selection for cost-efficient long-read population sequencing.
Genome research | 2021-05-01 | PMID 33811084
Ranallo-Benavidez T Rhyker, Lemmon Zachary, Soyk Sebastian and 6 more
Smoking associates with distinct clinical phenotypes in patients with systemic lupus erythematosus: a nationwide Danish cross-sectional study.
Lupus science & medicine | 2021-04-01 | PMID 33811110
Leffers Henrik Christian Bidstrup, Troldborg Anne, Voss Anne and 9 more
Adult phenotype of KCNQ2 encephalopathy.
Journal of medical genetics | 2022-06-01 | PMID 33811133
Boets Stephanie, Johannesen Katrine M, Destree Anne and 9 more
Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome.
Journal of medical genetics | 2022-05-01 | PMID 33811134
Aubert Mucca Marion, Patat Olivier, Whalen Sandra and 17 more
Characterisation of protein-truncating and missense variants in PALB2 in 15 768 women from Malaysia and Singapore.
Journal of medical genetics | 2022-05-01 | PMID 33811135
Ng Pei Sze, Boonen Rick Acm, Wijaya Eldarina and 27 more
Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy.
Journal of medical genetics | 2022-04-01 | PMID 33811136
Liu Zhimei, Zhang Li, Ren Changhong and 13 more
Reverse genetics systems for contemporary isolates of respiratory syncytial virus enable rapid evaluation of antibody escape mutants.
Proceedings of the National Academy of Sciences of the United States of America | 2021-04-06 | PMID 33811145
Jo Wendy K, Schadenhofer Alina, Habierski Andre and 11 more
Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.
Journal of the American Society of Nephrology : JASN | 2021-06-01 | PMID 33811157
Schlingmann Karl P, Renigunta Aparna, Hoorn Ewout J and 28 more