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 8279 of 10600

Impact of MnSOD and GPx1 Genotype at Different Levels of Enteral Nutrition Exposure on Oxidative Stress and Mortality: A Post hoc Analysis From the FeDOx Trial.
JPEN. Journal of parenteral and enteral nutrition | 2021-02-01 | PMID 32885455
McKeever Liam, Peterson Sarah J, Lateef Omar and 3 more
Severe epidermolysis bullosa simplex phenotype caused by codominant mutations p.Ile377Thr in keratin 14 and p.Gly138Glu in keratin 5.
Experimental dermatology | 2020-10-01 | PMID 32885477
Bchetnia Mbarka, Allard Jean-Pascal, Boucher-Lafleur Anne-Marie and 6 more
Leptin gene polymorphism (rs 7799039;G2548A) is associated with changes in lipid profile during a partial meal-replacement hypocaloric diet.
Journal of human nutrition and dietetics : the official journal of the British Dietetic Association | 2021-04-01 | PMID 32885526
Primo D, Izaola O, de Luis D
Genomic profiling of newly diagnosed glioblastoma patients and its potential for clinical utility - a prospective, translational study.
Molecular oncology | 2020-11-01 | PMID 32885540
Nørøxe Dorte S, Yde Christina W, Østrup Olga and 10 more
Sudden infant death with dysgenesis of the testes syndrome in a non-Amish infant: A case report.
American journal of medical genetics. Part A | 2020-11-01 | PMID 32885560
Slater Brady, Glinton Kevin, Dai Hongzheng and 7 more
Young-onset colorectal cancer is associated with a personal history of type 2 diabetes.
Asia-Pacific journal of clinical oncology | 2021-02-01 | PMID 32885561
Mikaeel Reger R, Symonds Erin L, Kimber James and 28 more
7q31.2q31.31 deletion downstream of FOXP2 segregating in a family with speech and language disorder.
American journal of medical genetics. Part A | 2020-11-01 | PMID 32885567
Rieger Melissa, Krumbiegel Mandy, Reuter Miriam S and 3 more
Macrophages in the pancreas: Villains by circumstances, not necessarily by actions.
Immunity, inflammation and disease | 2020-12-01 | PMID 32885589
Cruz Andrea F, Rohban Rokhsareh, Esni Farzad
Prenatal diagnosis of a rare β-thalassemia gene －90 (C>T) (HBB: c.-140 C>T) mutation associated with deletional Hb H disease (--SEA /-α4.2 ).
Molecular genetics & genomic medicine | 2020-11-01 | PMID 32885601
Qian Hou, Huang Jianlin, Xu Ji and 3 more
Genetic testing for the clinician in prostate cancer.
Expert review of molecular diagnostics | 2020-09-01 | PMID 32885704
López-Campos Fernando, Linares-Espinós Estefanía, Maldonado Pijoan Xavier and 5 more
The Endeavours in RAS Inhibition - the Past, Present, and Future.
Current topics in medicinal chemistry | 2020-01-01 | PMID 32885752
Hussain Javeena, Kirubakaran Sivapriya, Ravi Srimadhavi
Exploring Phenotypic and Genetic Overlap Between Cannabis Use and Schizotypy.
Twin research and human genetics : the official journal of the International Society for Twin Studies | 2020-08-01 | PMID 32885772
Vaissiere James, Thorp Jackson G, Ong Jue-Sheng and 2 more
Optimal sequencing strategies in the treatment of EGFR mutation-positive non-small cell lung cancer: Clinical benefits and cost-effectiveness.
American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System Pharmacists | 2020-09-04 | PMID 32885829
Hirsh Vera, Singh Jaspal
Innovative transcriptome-based genotyping highlights environmentally responsive genes for phenology, growth and yield in a non-model grain legume.
Plant, cell & environment | 2020-11-01 | PMID 32885839
Plewiński Piotr, Ćwiek-Kupczyńska Hanna, Rudy Elżbieta and 8 more
Effects of biophysical cues of 3D hydrogels on mesenchymal stem cells differentiation.
Journal of cellular physiology | 2021-04-01 | PMID 32885847
Guo Yutong, Du Shufang, Quan Shuqi and 3 more
Cyclin Pathway Genomic Alterations Across 190,247 Solid Tumors: Leveraging Large-Scale Data to Inform Therapeutic Directions.
The oncologist | 2021-01-01 | PMID 32885893
Jardim Denis L, Millis Sherri Z, Ross Jeffrey S and 3 more
Genes: AR, ESR1, CCND1, CCND2, CCNE1, CDK4, CDKN2A, CDKN2B
Genetic variations in S gene of porcine epidemic diarrhoea virus from 2018 in Sichuan Province, China.
Veterinary medicine and science | 2020-11-01 | PMID 32885908
Li Fei, Zeng Yubing, Zhang Rubo and 4 more
Current and future trends in non-small cell lung cancer biomarker testing: The American experience.
Cancer cytopathology | 2020-09-01 | PMID 32885913
VanderLaan Paul A, Roy-Chowdhuri Sinchita
ROS1 positive non-small cell lung cancer with pulmonary embolism in a 22-year woman.
Monaldi archives for chest disease = Archivio Monaldi per le malattie del torace | 2020-08-07 | PMID 32885935
Datta Ananda, Mantha Satya Padmaja, Mitra Suvradeep and 3 more
Genome-Wide Linkage Analysis of the Risk of Contracting a Bloodstream Infection in 47 Pedigrees Followed for 23 Years Assembled From a Population-Based Cohort (the HUNT Study).
Critical care medicine | 2020-11-01 | PMID 32885941
Rogne Tormod, Damås Jan Kristian, Solligård Erik and 1 more
Founder Mutation in N Terminus of Cardiac Troponin I Causes Malignant Hypertrophic Cardiomyopathy.
Circulation. Genomic and precision medicine | 2020-10-01 | PMID 32885985
Fahed Akl C, Nemer Georges, Bitar Fadi F and 11 more
Rhythm dynamics of the aging heart: an experimental study using conscious, restrained mice.
American journal of physiology. Heart and circulatory physiology | 2020-10-01 | PMID 32886003
Comelli Martina, Meo Marianna, Cervantes Daniel O and 7 more
Genetics of early growth traits.
Human molecular genetics | 2020-09-30 | PMID 32886111
Cousminer Diana L, Freathy Rachel M
Assessment of the potential role of natural selection in type 2 diabetes and related traits across human continental ancestry groups: comparison of phenotypic with genotypic divergence.
Diabetologia | 2020-12-01 | PMID 32886191
Hanson Robert L, Van Hout Cristopher V, Hsueh Wen-Chi and 5 more
A susceptibility-weighted imaging qualitative score of the motor cortex may be a useful tool for distinguishing clinical phenotypes in amyotrophic lateral sclerosis.
European radiology | 2021-03-01 | PMID 32886203
Conte Giorgio, Sbaraini Sara, Morelli Claudia and 8 more
Genetic variants in the glucocorticoid pathway genes and birth weight.
Archives of gynecology and obstetrics | 2021-02-01 | PMID 32886236
Schneider Michael O, Hübner Theresa, Pretscher Jutta and 8 more
Genome- wide structural and functional variant discovery of rice landraces using genotyping by sequencing.
Molecular biology reports | 2020-10-01 | PMID 32886328
Vasumathy Smitha Kunhiraman, Peringottillam Maya, Sundaram Krishna T and 2 more
A homozygous nonsense variant in DYM underlies Dyggve-Melchior-Clausen syndrome associated with ectodermal features.
Molecular biology reports | 2020-09-01 | PMID 32886330
Abdullah, Shah Pashmina Wiqar, Nawaz Shoaib and 4 more
Combined Effect of Inter- and Intrapatient Variability in Tacrolimus Exposure on Graft Impairment Within a 3-Year Period Following Kidney Transplantation: A Single-Center Experience.
European journal of drug metabolism and pharmacokinetics | 2020-12-01 | PMID 32886348
Stefanović Nikola Z, Veličković-Radovanović Radmila M, Danković Katarina S and 4 more
Genotype-Phenotype Correlation of Tracheal Cartilaginous Sleeves and Fgfr2 Mutations in Mice.
The Laryngoscope | 2021-04-01 | PMID 32886384
Lam Austin S, Liu Carrie C, Deutsch Gail H and 6 more
Radiofrequency ablation for DYT-28 dystonia: short term follow-up of three adult cases.
Annals of clinical and translational neurology | 2020-10-01 | PMID 32886413
Horisawa Shiro, Azuma Kenkou, Akagawa Hiroyuki and 3 more
A rare Waxy allele coordinately improves rice eating and cooking quality and grain transparency.
Journal of integrative plant biology | 2021-05-01 | PMID 32886440
Zhang Changquan, Yang Yong, Chen Shengjie and 9 more
Attempts to optimize postinduction treatment in childhood acute myeloid leukemia without core-binding factors: A report from the Japanese Pediatric Leukemia/Lymphoma Study Group (JPLSG).
Pediatric blood & cancer | 2020-12-01 | PMID 32886449
Hasegawa Daiichiro, Tawa Akio, Tomizawa Daisuke and 18 more
The origin of Wxla provides new insights into the improvement of grain quality in rice.
Journal of integrative plant biology | 2021-05-01 | PMID 32886450
Zhou Hao, Xia Duo, Zhao Da and 11 more
Linking Genes to Shape in Plants Using Morphometrics.
Annual review of genetics | 2020-11-23 | PMID 32886544
Xu Hao, Bassel George W
Transposon Insertion Sequencing, a Global Measure of Gene Function.
Annual review of genetics | 2020-11-23 | PMID 32886545
van Opijnen Tim, Levin Henry L
Co-existence of mutations in myeloproliferative neoplasms and their clinical significance: a prognostic approach.
Expert review of hematology | 2020-11-01 | PMID 32886563
Homaei Hadad Elham, Pezeshki Seyed Mohammad Sadegh, Shahrabi Saeid and 2 more
The interaction of Escherichia coli O157 :H7 and Salmonella Typhimurium flagella with host cell membranes and cytoskeletal components.
Microbiology (Reading, England) | 2020-10-01 | PMID 32886602
Wolfson Eliza B, Elvidge Johanna, Tahoun Amin and 13 more
nosX is essential for whole-cell N2O reduction in Paracoccus denitrificans but not for assembly of copper centres of nitrous oxide reductase.
Microbiology (Reading, England) | 2020-10-01 | PMID 32886603
Bennett Sophie P, Torres Maria J, Soriano-Laguna Manuel J and 3 more
Why is cyclic dominance so rare?
eLife | 2020-09-04 | PMID 32886604
Park Hye Jin, Pichugin Yuriy, Traulsen Arne
Association between tumor mutation profile and clinical outcomes among Hispanic Latina women with triple-negative breast cancer.
PloS one | 2020-01-01 | PMID 32886682
Philipovskiy Alexander, Dwivedi Alok K, Gamez Roberto and 5 more
p53 deficiency triggers dysregulation of diverse cellular processes in physiological oxygen.
The Journal of cell biology | 2020-11-02 | PMID 32886745
Valente Liz J, Tarangelo Amy, Li Albert Mao and 10 more
Evaluation of Positive B- and T-Cell Gene Rearrangement Studies in Patients With Negative Morphology, Flow Cytometry, and Immunohistochemistry.
Archives of pathology & laboratory medicine | 2021-02-01 | PMID 32886749
Mendoza Hadrian, Tormey Christopher A, Siddon Alexa J
Phenotypical and functional alteration of unconventional T cells in severe COVID-19 patients.
The Journal of experimental medicine | 2020-12-07 | PMID 32886755
Jouan Youenn, Guillon Antoine, Gonzalez Loïc and 11 more
Impact of protein glycosylation on lipoprotein metabolism and atherosclerosis.
Cardiovascular research | 2021-03-21 | PMID 32886765
Pirillo Angela, Svecla Monika, Catapano Alberico Luigi and 2 more
Fitness-associated substitutions following failure of direct-acting antivirals assessed by deep sequencing of full-length hepatitis C virus genomes.
Alimentary pharmacology & therapeutics | 2020-11-01 | PMID 32886807
Fourati Slim, Rodriguez Christophe, Soulier Alexandre and 10 more
Long-Term Response to Intermittent Binimetinib in Patients with NRAS-Mutant Melanoma.
The oncologist | 2020-11-01 | PMID 32886824
Matter Alexandra Valeska, Micaletto Sara, Urner-Bloch Ursula and 2 more
Neuron-specific deletion of CuZnSOD leads to an advanced sarcopenic phenotype in older mice.
Aging cell | 2020-10-01 | PMID 32886862
Bhaskaran Shylesh, Pollock Natalie, C Macpherson Peter and 11 more
Design, Evolution, and Characterization of a Xylose Biosensor in Escherichia coli Using the XylR/xylO System with an Expanded Operating Range.
ACS synthetic biology | 2020-10-16 | PMID 32886884
Tang Rui-Qi, Wagner James M, Alper Hal S and 2 more
Complexities of Next-Generation Sequencing in Solid Tumors: Case Studies.
Journal of the National Comprehensive Cancer Network : JNCCN | 2020-09-01 | PMID 32886903
Sokolova Alexandra O, Shirts Brian H, Konnick Eric Q and 6 more
Associations of the LPL S447X and Hind III Polymorphism with Type 2 Diabetes Mellitus Risk: A Meta-Analysis.
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme | 2021-01-01 | PMID 32886944
Liu Na, Sang Yan, Chen Shengzhi and 1 more
A weighted empirical Bayes risk prediction model using multiple traits.
Statistical applications in genetics and molecular biology | 2020-09-04 | PMID 32887211
Li Gengxin, Hou Lin, Liu Xiaoyu and 1 more
Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL.
Genes | 2020-09-02 | PMID 32887222
Barbosa-Gouveia Sofia, González-Vioque Emiliano, Hermida Álvaro and 7 more
Hepatitis B Virus preS/S Truncation Mutant rtM204I/sW196* Increases Carcinogenesis through Deregulated HIF1A, MGST2, and TGFbi.
International journal of molecular sciences | 2020-09-02 | PMID 32887289
Lai Ming-Wei, Liang Kung-Hao, Yeh Chau-Ting
A Missense Variant in ALDH5A1 Associated with Canine Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) in the Saluki Dog.
Genes | 2020-09-02 | PMID 32887425
Vernau Karen M, Struys Eduard, Letko Anna and 19 more
Development of a Molecular Snail Xenomonitoring Assay to Detect Schistosoma haematobium and Schistosoma bovis Infections in their Bulinus Snail Hosts.
Molecules (Basel, Switzerland) | 2020-09-02 | PMID 32887445
Pennance Tom, Archer John, Lugli Elena Birgitta and 12 more
Whole Mitochondrial Genome Analysis in Serbian Cases of Leber's Hereditary Optic Neuropathy.
Genes | 2020-09-02 | PMID 32887465
Dawod Phepy G A, Jancic Jasna, Marjanovic Ana and 10 more
Isolation and characterization of antibody fragments selective for human FTD brain derived TDP-43 variants.
BMC neuroscience | 2020-09-04 | PMID 32887544
Venkataraman Lalitha, He Ping, Khan Galam and 2 more
Signatures of selection reveal candidate genes involved in economic traits and cold acclimation in five Swedish cattle breeds.
Genetics, selection, evolution : GSE | 2020-09-04 | PMID 32887549
Ghoreishifar Seyed Mohammad, Eriksson Susanne, Johansson Anna M and 5 more
Whole exome sequencing highlights variants in association with Keratoconus in Jordanian families.
BMC medical genetics | 2020-09-04 | PMID 32887565
Froukh Tawfiq, Hawwari Ammar, Al Zubi Khalid
Diversity of Cryptosporidium spp. in wild rodents from the Canary Islands, Spain.
Parasites & vectors | 2020-09-04 | PMID 32887646
García-Livia Katherine, Martín-Alonso Aarón, Foronda Pilar
Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation.
Acta neuropathologica communications | 2020-09-04 | PMID 32887649
Schuld Julia, Orfanos Zacharias, Chevessier Frédéric and 11 more
Genotypic Characterization of the U.S. Peanut Core Collection.
G3 (Bethesda, Md.) | 2020-11-05 | PMID 32887672
Otyama Paul I, Kulkarni Roshan, Chamberlin Kelly and 11 more
Genomic risk scores for juvenile idiopathic arthritis and its subtypes.
Annals of the rheumatic diseases | 2020-12-01 | PMID 32887683
Cánovas Rodrigo, Cobb Joanna, Brozynska Marta and 9 more
Long-read sequencing for non-small-cell lung cancer genomes.
Genome research | 2020-09-01 | PMID 32887687
Sakamoto Yoshitaka, Xu Liu, Seki Masahide and 12 more
High-throughput single-cell functional elucidation of neurodevelopmental disease-associated genes reveals convergent mechanisms altering neuronal differentiation.
Genome research | 2020-09-01 | PMID 32887689
Lalli Matthew A, Avey Denis, Dougherty Joseph D and 2 more
CRISPR-GEMM Pooled Mutagenic Screening Identifies KMT2D as a Major Modulator of Immune Checkpoint Blockade.
Cancer discovery | 2020-12-01 | PMID 32887696
Wang Guangchuan, Chow Ryan D, Zhu Lvyun and 16 more
Mutant and Recombinant Phages Selected from In Vitro Coevolution Conditions Overcome Phage-Resistant Listeria monocytogenes.
Applied and environmental microbiology | 2020-10-28 | PMID 32887717
Peters Tracey Lee, Song Yaxiong, Bryan Daniel W and 2 more
Bacillus thuringiensis Cry1Ab Domain III β-22 Mutants with Enhanced Toxicity to Spodoptera frugiperda (J. E. Smith).
Applied and environmental microbiology | 2020-10-28 | PMID 32887720
Gómez Isabel, Ocelotl Josue, Sánchez Jorge and 5 more
Mutagenomics: A Rapid, High-Throughput Method to Identify Causative Mutations from a Genetic Screen.
Plant physiology | 2020-12-01 | PMID 32887734
Hodgens Charles, Chang Nicole, Schaller G Eric and 1 more
An Early Pandemic Analysis of SARS-CoV-2 Population Structure and Dynamics in Arizona.
mBio | 2020-09-04 | PMID 32887735
Ladner Jason T, Larsen Brendan B, Bowers Jolene R and 20 more
A CEP Peptide Receptor-Like Kinase Regulates Auxin Biosynthesis and Ethylene Signaling to Coordinate Root Growth and Symbiotic Nodulation in Medicago truncatula.
The Plant cell | 2020-09-01 | PMID 32887805
Zhu Fugui, Deng Jie, Chen Hong and 9 more
Pan-cancer study detects genetic risk variants and shared genetic basis in two large cohorts.
Nature communications | 2020-09-04 | PMID 32887889
Rashkin Sara R, Graff Rebecca E, Kachuri Linda and 16 more
Protein signatures of seminal plasma from bulls with contrasting frozen-thawed sperm viability.
Scientific reports | 2020-09-04 | PMID 32887897
Gomes Fabio P, Park Robin, Viana Arabela G and 6 more
Systems-level differential gene expression analysis reveals new genetic variants of oral cancer.
Scientific reports | 2020-09-04 | PMID 32887903
Abbas Syeda Zahra, Qadir Muhammad Imran, Muhammad Syed Aun
Telomere-to-telomere assembled and centromere annotated genomes of the two main subspecies of the button mushroom Agaricus bisporus reveal especially polymorphic chromosome ends.
Scientific reports | 2020-09-04 | PMID 32887908
Sonnenberg Anton S M, Sedaghat-Telgerd Narges, Lavrijssen Brian and 5 more
Diversity and pathogenicity of Colletotrichum species causing strawberry anthracnose in Taiwan and description of a new species, Colletotrichum miaoliense sp. nov.
Scientific reports | 2020-09-04 | PMID 32887909
Chung Pei-Che, Wu Hung-Yi, Wang Yen-Wen and 5 more
Impact of DNA extraction on whole genome sequencing analysis for characterization and relatedness of Shiga toxin-producing Escherichia coli isolates.
Scientific reports | 2020-09-04 | PMID 32887913
Nouws Stéphanie, Bogaerts Bert, Verhaegen Bavo and 6 more
Kinship analysis on single cells after whole genome amplification.
Scientific reports | 2020-09-04 | PMID 32887915
Weymaere Jana, Vander Plaetsen Ann-Sophie, Tilleman Laurentijn and 5 more
A normative modelling approach reveals age-atypical cortical thickness in a subgroup of males with autism spectrum disorder.
Communications biology | 2020-09-04 | PMID 32887930
Bethlehem Richard A I, Seidlitz Jakob, Romero-Garcia Rafael and 3 more
Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS.
European journal of human genetics : EJHG | 2021-02-01 | PMID 32887937
Braunisch Matthias Christoph, Riedhammer Korbinian Maria, Herr Pierre-Maurice and 12 more
Characterization of glycerol-3-phosphate acyltransferase 9 (AhGPAT9) genes, their allelic polymorphism and association with oil content in peanut (Arachis hypogaea L.).
Scientific reports | 2020-09-04 | PMID 32887939
Lv Yuying, Zhang Xiurong, Luo Lu and 5 more
Efficacy and Safety of Sofosbuvir/Velpatasvir/Voxilaprevir for Hepatitis C Virus (HCV) NS5A-Inhibitor Experienced Patients With Difficult to Cure Characteristics.
Clinical infectious diseases : an official publication of the Infectious Diseases Society of America | 2021-11-02 | PMID 32887983
Papaluca Timothy, Roberts Stuart K, Strasser Simone I and 34 more
Update on the Role of NFκB in Promoting Aggressive Phenotypes of Estrogen Receptor-Positive Breast Cancer.
Endocrinology | 2020-10-01 | PMID 32887995
Smart Emily, Semina Svetlana E, Frasor Jonna
Fine mapping genetic variants associated with age at puberty and sow fertility using SowPro90 genotyping array.
Journal of animal science | 2020-10-01 | PMID 32888012
Wijesena Hiruni R, Kachman Stephen D, Lents Clay A and 5 more
Survival in patients with glioblastoma at a first progression does not correlate with isocitrate dehydrogenase (IDH)1 gene mutation status.
Japanese journal of clinical oncology | 2021-01-01 | PMID 32888020
Tabei Yusuke, Kobayashi Keiichi, Saito Kuniaki and 5 more
Genetic diversity and genome-wide association analysis in Chinese hulless oat germplasm.
TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik | 2020-12-01 | PMID 32888041
Yan Honghai, Zhou Pingping, Peng Yun and 4 more
Harnessing the power of genetics: fast forward genetics in Caenorhabditis elegans.
Molecular genetics and genomics : MGG | 2021-01-01 | PMID 32888055
Singh Jogender
Prevalence of germline TP53 variants among early-onset breast cancer patients from Polish population.
Breast cancer (Tokyo, Japan) | 2021-01-01 | PMID 32888145
Rogoża-Janiszewska Emilia, Malińska Karolina, Górski Bohdan and 9 more
Bioaccumulation of cadmium in different genotypes of wheat crops irrigated with different sources of water in agricultural regions.
Environmental science and pollution research international | 2021-01-01 | PMID 32888150
Zafar Asma, Khan Zafar Iqbal, Liu Wuyi and 10 more
Progressive Ataxia with Hemiplegic Migraines: a Phenotype of CACNA1A Missense Mutations, Not CAG Repeat Expansions.
Cerebellum (London, England) | 2021-02-01 | PMID 32888184
Duque Kevin R, Marsili Luca, Sturchio Andrea and 4 more
Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine-5'-phosphate oxidase deficiency.
Clinical genetics | 2021-01-01 | PMID 32888189
Alghamdi Malak, Bashiri Fahad A, Abdelhakim Marwa and 5 more
Family History of Eating Disorder and the Broad Autism Phenotype in Autism.
Autism research : official journal of the International Society for Autism Research | 2020-09-01 | PMID 32888262
Barrionuevo Bianca A, Chowdhury Aneesa R, Lee Joycelyn M and 4 more
Next-generation sequencing in hypoplastic bone marrow failure: What difference does it make?
European journal of haematology | 2021-01-01 | PMID 32888355
Skibenes Sofie T, Clausen Ida, Raaschou-Jensen Klas
Systemic and ocular manifestations of a patient with mosaic ARID1A-associated Coffin-Siris syndrome and review of select mosaic conditions with ophthalmic manifestations.
American journal of medical genetics. Part C, Seminars in medical genetics | 2020-09-01 | PMID 32888375
Miraldi Utz Virginia, Brightman Diana S, Sandoval Monica A and 2 more
The new landscape of retinal gene therapy.
American journal of medical genetics. Part C, Seminars in medical genetics | 2020-09-01 | PMID 32888388
Ku Cristy A, Pennesi Mark E
Functional variation of SLC52A3 rs13042395 predicts survival of Chinese gastric cancer patients.
Journal of cellular and molecular medicine | 2020-11-01 | PMID 32888389
Qu Xiaofei, Cheng Lei, Zhao Liqin and 2 more
Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith-Lemli-Opitz syndrome.
American journal of medical genetics. Part A | 2020-11-01 | PMID 32888391
Gana Simone, Plumari Massimo, Rossi Elena and 5 more
Characterization of the Robinow syndrome skeletal phenotype, bone micro-architecture, and genotype-phenotype correlations with the osteosclerotic form.
American journal of medical genetics. Part A | 2020-11-01 | PMID 32888393
Shayota Brian J, Zhang Chaofan, Shypailo Roman J and 3 more
Longitudinal Measurements of Glucocerebrosidase activity in Parkinson's patients.
Annals of clinical and translational neurology | 2020-10-01 | PMID 32888397
Alcalay Roy N, Wolf Pavlina, Chiang Ming Sum Ruby and 16 more