Heterozygous missense variant in EIF6 gene: A novel form of Shwachman-Diamond syndrome?
American journal of medical genetics. Part A | 2020-09-01 | PMID 32657013
Koh Ai Ling, Bonnard Carine, Lim Jiin Ying and 10 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.
Semantic proximity supports literature exploration. It does not establish scientific or clinical evidence.
Publications
Page 8217 of 10600
Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study.
ESC heart failure | 2020-10-01 | PMID 32657043
Gurka Jiri, Piherova Lenka, Majer Filip and 12 more
Genes: LAMP2
Characterization of a new HLA-A allele, HLA-A*29:128, in a Spanish individual.
HLA | 2020-10-01 | PMID 32657047
Sánchez-Gordo Francisco P
Genetic profile of non-small cell lung cancer (NSCLC): A hospital-based survey in Jinhua.
Molecular genetics & genomic medicine | 2020-09-01 | PMID 32657049
Chen Xianguo, Xu Bo, Li Qiang and 4 more
Improving genetic diagnostics of skeletal muscle channelopathies.
Expert review of molecular diagnostics | 2020-07-01 | PMID 32657178
Vivekanandam Vinojini, Männikkö Roope, Matthews Emma and 1 more
Polymorphisms in BMPR-IB gene and their association with litter size trait in Chinese Hu sheep.
Animal biotechnology | 2022-04-01 | PMID 32657205
Yang Zhenwei, Yang Xinyue, Liu Guangbin and 5 more
A CRISPR/Cas9-mediated gene knockout system in Aspergillus luchuensis mut. kawachii.
Bioscience, biotechnology, and biochemistry | 2020-10-01 | PMID 32657224
Kadooka Chihiro, Yamaguchi Masaaki, Okutsu Kayu and 6 more
Identification and characterization of a female gametophyte defect in sdk1-7 +/- abi3-6 +/- heterozygotes of Arabidopsis thaliana.
Plant signaling & behavior | 2020-08-02 | PMID 32657242
Sankaranarayanan Subramanian, Jamshed Muhammad, Delmas Frédéric and 2 more
Identifying diagnosis-specific genotype-phenotype associations via joint multitask sparse canonical correlation analysis and classification.
Bioinformatics (Oxford, England) | 2020-07-01 | PMID 32657360
Du Lei, Liu Fang, Liu Kefei and 6 more
Prediction of cancer driver genes through network-based moment propagation of mutation scores.
Bioinformatics (Oxford, England) | 2020-07-01 | PMID 32657361
Gumpinger Anja C, Lage Kasper, Horn Heiko and 1 more
MAGGIE: leveraging genetic variation to identify DNA sequence motifs mediating transcription factor binding and function.
Bioinformatics (Oxford, England) | 2020-07-01 | PMID 32657363
Shen Zeyang, Hoeksema Marten A, Ouyang Zhengyu and 2 more
Genes: TF
ClonArch: visualizing the spatial clonal architecture of tumors.
Bioinformatics (Oxford, England) | 2020-07-01 | PMID 32657368
Wu Jiaqi, El-Kebir Mohammed
Combinatorial and statistical prediction of gene expression from haplotype sequence.
Bioinformatics (Oxford, England) | 2020-07-01 | PMID 32657373
Alpay Berk A, Demetci Pinar, Istrail Sorin and 1 more
Topological and kernel-based microbial phenotype prediction from MALDI-TOF mass spectra.
Bioinformatics (Oxford, England) | 2020-07-01 | PMID 32657381
Weis Caroline, Horn Max, Rieck Bastian and 3 more
Identifying tumor clones in sparse single-cell mutation data.
Bioinformatics (Oxford, England) | 2020-07-01 | PMID 32657385
Myers Matthew A, Zaccaria Simone, Raphael Benjamin J
MHCAttnNet: predicting MHC-peptide bindings for MHC alleles classes I and II using an attention-based deep neural model.
Bioinformatics (Oxford, England) | 2020-07-01 | PMID 32657386
Venkatesh Gopalakrishnan, Grover Aayush, Srinivasaraghavan G and 1 more
Mutational signature learning with supervised negative binomial non-negative matrix factorization.
Bioinformatics (Oxford, England) | 2020-07-01 | PMID 32657388
Lyu Xinrui, Garret Jean, Rätsch Gunnar and 1 more
Network-based characterization of disease-disease relationships in terms of drugs and therapeutic targets.
Bioinformatics (Oxford, England) | 2020-07-01 | PMID 32657408
Iida Midori, Iwata Michio, Yamanishi Yoshihiro
Cancer mutational signatures representation by large-scale context embedding.
Bioinformatics (Oxford, England) | 2020-07-01 | PMID 32657413
Zhang Yang, Xiao Yunxuan, Yang Muyu and 1 more
MutCombinator: identification of mutated peptides allowing combinatorial mutations using nucleotide-based graph search.
Bioinformatics (Oxford, England) | 2020-07-01 | PMID 32657416
Choi Seunghyuk, Paek Eunok
Genomic mechanisms in Alzheimer's disease.
Brain pathology (Zurich, Switzerland) | 2020-09-01 | PMID 32657454
Bertram Lars, Tanzi Rudolph E
Metabolic signalling to somatotrophs: Transcriptional and post-transcriptional mediators.
Journal of neuroendocrinology | 2020-11-01 | PMID 32657474
Allensworth-James Melody L, Odle Angela K, Lim Juchan and 7 more
Does harvest affect genetic diversity in grey wolves?
Molecular ecology | 2020-09-01 | PMID 32657476
Ausband David E, Waits Lisette
Porcine reproductive and respiratory syndrome virus dissemination across pig production systems in the United States.
Transboundary and emerging diseases | 2021-03-01 | PMID 32657491
Jara Manuel, Rasmussen David A, Corzo Cesar A and 1 more
Methods for identifying and interpreting sex-linked SNP markers and carrying out sex assignment: application to thornback ray (Raja clavata).
Molecular ecology resources | 2020-11-01 | PMID 32657500
Trenkel Verena M, Boudry Pierre, Verrez-Bagnis Véronique and 1 more
Analysis of canine parvoviruses circulating in Australia reveals predominance of variant 2b and identifies feline parvovirus-like mutations in the capsid proteins.
Transboundary and emerging diseases | 2021-03-01 | PMID 32657506
Kwan Emily, Carrai Maura, Lanave Gianvito and 8 more
Rational drug discovery: Ellagic acid as a potent dual-target inhibitor against hepatitis C virus genotype 3 (HCV G3) NS3 enzymes.
Chemical biology & drug design | 2021-01-01 | PMID 32657543
Lim See Khai, Othman Rozana, Yusof Rohana and 1 more
Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum.
Archives of Iranian medicine | 2020-07-01 | PMID 32657593
Taghizadeh Sara, Vazehan Raheleh, Beheshtian Maryam and 8 more
A decade of hepatitis C at the University of Cape Town/Groote Schuur Hospital Liver Clinic, South Africa, in the pre-direct-acting antivirals era.
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde | 2020-01-29 | PMID 32657679
Nordien R, Sonderup M W, Spearman C W
Direct-acting antiviral therapy for hepatitis C: The initial experience of the University of Cape Town/Groote Schuur Hospital Liver Clinic, South Africa.
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde | 2020-01-29 | PMID 32657680
Sonderup M W, Gogela N, Nordien R and 4 more
CYP3A5 polymorphisms and their effects on tacrolimus exposure in an ethnically diverse South African renal transplant population.
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde | 2020-01-29 | PMID 32657689
Muller W K, Dandara C, Manning K and 4 more
Genomic landscape of metastatic breast cancer identifies preferentially dysregulated pathways and targets.
The Journal of clinical investigation | 2020-08-03 | PMID 32657779
Paul Matt R, Pan Tien-Chi, Pant Dhruv K and 15 more
Insights into pathogenesis and clinical implications in myositis-associated interstitial lung diseases.
Current opinion in pulmonary medicine | 2020-09-01 | PMID 32657836
Yanagihara Toyoshi, Inoue Yoshikazu
Progressive fibrosing interstitial lung disease: treatable traits and therapeutic strategies.
Current opinion in pulmonary medicine | 2020-09-01 | PMID 32657838
Wongkarnjana Amornpun, Scallan Ciaran, Kolb Martin R J
Two novel pathogenic variants in KIAA1109 causing Alkuraya-Kučinskas syndrome in two Czech Roma brothers.
Clinical dysmorphology | 2020-10-01 | PMID 32657846
Meszarosova Anna Uhrova, Lastuvkova Jana, Rennerova Ladislava and 4 more
Two cases of Nicolaides-Baraitser syndrome, one with a novel SMARCA2 variant.
Clinical dysmorphology | 2020-10-01 | PMID 32657847
Karaer Kadri
Complete Metabolic Response Assessed by FDG PET/CT to FOLFOXIRI-Bevacizumab in First-Line Treatment of BRAFV600E Mutated Metastatic Colorectal Cancer.
Clinical nuclear medicine | 2020-09-01 | PMID 32657876
Amrane Karim, le Pennec Romain, Schick Ulrike and 2 more
18F-FDG PET/CT in Labrune Syndrome.
Clinical nuclear medicine | 2020-10-01 | PMID 32657880
Cuzzocrea Marco, Florimonte Luigia, Scola Elisa and 2 more
Magnetic resonance spectroscopy of isocitrate dehydrogenase mutated gliomas: current knowledge on the neurochemical profile.
Current opinion in neurology | 2020-08-01 | PMID 32657882
Branzoli Francesca, Marjańska Małgorzata
Recent genetic advances in early-onset dystonia.
Current opinion in neurology | 2020-08-01 | PMID 32657892
Steel Dora, Kurian Manju A
Wilson disease.
Current opinion in neurology | 2020-08-01 | PMID 32657896
Aggarwal Annu, Bhatt Mohit
Medullary Pancreatic Carcinoma Due to Somatic POLE Mutation: A Distinctive Pancreatic Carcinoma With Marked Long-Term Survival.
Pancreas | 2020-08-01 | PMID 32658072
Kryklyva Valentyna, Ter Linden Esther, Kroeze Leonie I and 10 more
Complex Genetics in Pancreatitis: Insights Gained From a New Candidate Locus Panel.
Pancreas | 2020-08-01 | PMID 32658084
Ellison Mitchell A, Spagnolo Daniel M, Shelton Celeste and 4 more
Brief Report: Toll-like Receptor 9-1635A/G Polymorphism Is Associated With HIV-1 Rebound After Four Weeks of Interruption of Antiretroviral Therapy.
Journal of acquired immune deficiency syndromes (1999) | 2020-10-01 | PMID 32658127
Vallejo Alejandro, Molina-Pinelo Sonia, de Felipe Beatriz and 4 more
Mapping the Structure-Function Relationships of Disordered Oncogenic Transcription Factors Using Transcriptomic Analysis.
Journal of visualized experiments : JoVE | 2020-06-27 | PMID 32658189
Showpnil Iftekhar A, Miller Kyle R, Taslim Cenny and 3 more
Large variability in feeding behavior among crossbred growing cattle.
Journal of animal science | 2020-07-01 | PMID 32658252
Kelly David N, Sleator Roy D, Murphy Craig P and 3 more
Comprehensive nucleosome interactome screen establishes fundamental principles of nucleosome binding.
Nucleic acids research | 2020-09-25 | PMID 32658293
Skrajna Aleksandra, Goldfarb Dennis, Kedziora Katarzyna M and 10 more
Viral metagenomics analysis of kidney donors and recipients: Torque teno virus genotyping and prevalence.
Journal of medical virology | 2020-12-01 | PMID 32658305
Kulifaj Dorian, Tilloy Valentin, Scaon Erwan and 8 more
"Colonization routes and demographic history of Chirostoma humboldtianum in the central Mexican plateau".
Journal of fish biology | 2020-10-01 | PMID 32658333
García-Martínez Rosa María, de Los Angeles Barriga-Sosa Irene, López Benjamín and 1 more
The role of host genetics in the immune response to SARS-CoV-2 and COVID-19 susceptibility and severity.
Immunological reviews | 2020-07-01 | PMID 32658335
Ovsyannikova Inna G, Haralambieva Iana H, Crooke Stephen N and 2 more
Lack of association between glutathione S-transferase M1 and T1 gene polymorphisms and susceptibility to preeclampsia: An updated systematic review and meta-analysis.
American journal of reproductive immunology (New York, N.Y. : 1989) | 2020-12-01 | PMID 32658338
Sljivancanin Jakovljevic Tamara, Jacimovic Jelena, Nikolic Nadja and 1 more
Maternal origins, population structure and demographic history of ten Chinese indigenous goat breeds from Yunnan.
Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie | 2021-01-01 | PMID 32658371
Li Rong, Sun Jianshu, Zhao Yincheng and 2 more
GBA-Related Parkinson's Disease: Dissection of Genotype-Phenotype Correlates in a Large Italian Cohort.
Movement disorders : official journal of the Movement Disorder Society | 2020-11-01 | PMID 32658388
Petrucci Simona, Ginevrino Monia, Trezzi Ilaria and 32 more
Familial Hemophagocytic Lymphohistiocytosis Type 2 in a Chinese Infant with PRF1 Homozygous Mutation: a Case Report.
Clinical laboratory | 2020-07-01 | PMID 32658436
Ji Qiong, Wang Guohua, Xu Wei
Next-Generation Sequencing of Plasma Cell-Free DNA for Treatment Monitoring in Advanced Head and Neck Cancer Patients.
Clinical laboratory | 2020-07-01 | PMID 32658437
Bai Jing, Zhang Shurong, Li Xinyu and 2 more
Radiation-induced transgenerational effects in animals.
International journal of radiation biology | 2022-01-01 | PMID 32658553
Dubrova Yuri E, Sarapultseva Elena I
Innate lymphoid cells regulate radiation-induced skin damage via CCR10 signaling.
International journal of radiation biology | 2020-09-01 | PMID 32658555
Mao Yiwen, Tao Rui, Cao Xiaoping and 3 more
Human norovirus detection in bivalve shellfish in Brazil and evaluation of viral infectivity using PMA treatment.
Marine pollution bulletin | 2020-08-01 | PMID 32658680
Sarmento Sylvia Kahwage, Guerra Caroline Rezende, Malta Fábio Correia and 3 more
Dental Forensic Kit (DFK®) and Quick Extract™ FFPE DNA extraction kit, a new workflow for obtaining dental DNA for human genetic identity.
Journal of forensic and legal medicine | 2020-07-01 | PMID 32658750
Inostroza Carolina, Carrasco Patricio, Godoy Marianela and 2 more
Emerging atypicalities in functional connectivity of language-related networks in young infants at high familial risk for ASD.
Developmental cognitive neuroscience | 2020-10-01 | PMID 32658762
Liu Janelle, Okada Nana J, Cummings Kaitlin K and 5 more
Serum latent transforming growth factor-β binding protein 4 as a novel biomarker for idiopathic pleuroparenchymal fibroelastosis.
Respiratory medicine | 2020-09-01 | PMID 32658840
Kinoshita Yoshiaki, Ikeda Takato, Kushima Hisako and 4 more
GCK-MODY in a child with cystic fibrosis: the doubt of the treatment plan.
Journal of pediatric endocrinology & metabolism : JPEM | 2020-07-13 | PMID 32658865
Salzano Giuseppina, Passanisi Stefano, Lucanto Maria Cristina and 3 more
Genetic association of hypoxia inducible factor 1-alpha (HIF1A) Pro582Ser polymorphism with risk of diabetes and diabetic complications.
Aging | 2020-07-13 | PMID 32658866
Ren Huan, Luo Jian-Quan, Gao Yong-Chao and 5 more
A non-canonical RNAi pathway controls virulence and genome stability in Mucorales.
PLoS genetics | 2020-07-01 | PMID 32658892
Pérez-Arques Carlos, Navarro-Mendoza María Isabel, Murcia Laura and 3 more
Epistatic interactions between PHOTOPERIOD1, CONSTANS1 and CONSTANS2 modulate the photoperiodic response in wheat.
PLoS genetics | 2020-07-01 | PMID 32658893
Shaw Lindsay M, Li Chengxia, Woods Daniel P and 5 more
Assessing the performance of methods for copy number aberration detection from single-cell DNA sequencing data.
PLoS computational biology | 2020-07-01 | PMID 32658894
Mallory Xian F, Edrisi Mohammadamin, Navin Nicholas and 1 more
Transcriptome analysis indicates dominant effects on ribosome and mitochondrial function of a premature termination codon mutation in the zebrafish gene psen2.
PloS one | 2020-01-01 | PMID 32658922
Jiang Haowei, Pederson Stephen Martin, Newman Morgan and 3 more
Genome-Wide Association Analysis Identifies a Genetic Basis of Infectivity in a Model Bacterial Pathogen.
Molecular biology and evolution | 2020-12-16 | PMID 32658956
Andras Jason P, Fields Peter D, Du Pasquier Louis and 2 more
A New Cerkl Mouse Model Generated by CRISPR-Cas9 Shows Progressive Retinal Degeneration and Altered Morphological and Electrophysiological Phenotype.
Investigative ophthalmology & visual science | 2020-07-01 | PMID 32658961
Domènech Elena B, Andrés Rosa, López-Iniesta M José and 9 more
Performance of the 2019 ACR/EULAR classification criteria for IgG4-related disease and clinical phenotypes in a Spanish multicentre registry (REERIGG4).
Rheumatology (Oxford, England) | 2021-01-05 | PMID 32658963
Fernández-Codina Andreu, Pinilla Blanca, Pinal-Fernández Iago and 9 more
SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect.
Brain : a journal of neurology | 2020-08-01 | PMID 32658972
McNeill Alisdair, Iovino Emanuela, Mansard Luke and 17 more
Large-scale assessment of antimicrobial resistance marker databases for genetic phenotype prediction: a systematic review.
The Journal of antimicrobial chemotherapy | 2020-11-01 | PMID 32658975
Mahfouz Norhan, Ferreira Inês, Beisken Stephan and 2 more
Drosophila Mon1 and Rab7 interact to regulate glutamate receptor levels at the neuromuscular junction.
The International journal of developmental biology | 2020-01-01 | PMID 32658990
Basargekar Anagha, Yogi Shweta, Mushtaq Zeeshan and 4 more
Fungal senescence induced by the Neurospora sen mutation and mitochondrial plasmids - the contributions of Ramesh Maheshwari.
The International journal of developmental biology | 2020-01-01 | PMID 32659014
Kasbekar Durgadas P
Relation between mutations in the 5' UTR of ANKRD26 gene and inherited thrombocytopenia with predisposition to myeloid malignancies. An Egyptian study.
Platelets | 2021-07-04 | PMID 32659145
Zidan Nahla Ibrahim, AbdElmonem Doaa Metwally, Elsheikh Haitham Mohamed and 3 more
The Diagnostic Accuracy of Liquid Biopsy in EGFR-Mutated NSCLC: A Systematic Review and Meta-Analysis of 40 Studies.
SLAS technology | 2021-02-01 | PMID 32659150
Wang Naiqun, Zhang Xiaolian, Wang Feilong and 6 more
Hereditary C1 inhibitor deficiency associated with systemic lupus erythematosus.
Lupus | 2020-10-01 | PMID 32659156
Shukla Anuj, Gaur Priyanka
Can Vitamin D and L-Cysteine Co-Supplementation Reduce 25(OH)-Vitamin D Deficiency and the Mortality Associated with COVID-19 in African Americans?
Journal of the American College of Nutrition | 2000-01-01 | PMID 32659175
Jain Sushil K, Parsanathan Rajesh
Cryptosporidium bollandi n. sp. (Apicomplexa: Cryptosporidiiae) from angelfish (Pterophyllum scalare) and Oscar fish (Astronotus ocellatus).
Experimental parasitology | 2020-10-01 | PMID 32659234
Bolland S J, Zahedi Alireza, Oskam Charlotte and 2 more
ETV6 gene aberrations in non-haematological malignancies: A review highlighting ETV6 associated fusion genes in solid tumors.
Biochimica et biophysica acta. Reviews on cancer | 2020-08-01 | PMID 32659251
Biswas Angana, Rajesh Yetirajam, Mitra Pralay and 1 more
Metabogenomics reveals four candidate regions involved in the pathophysiology of Equine Metabolic Syndrome.
Molecular and cellular probes | 2020-10-01 | PMID 32659253
Patterson Rosa Laura, Mallicote Martha F, Long Maureen T and 1 more
Identification of two novel SMN1 point mutations associated with a very severe SMA-I phenotype.
European journal of medical genetics | 2020-09-01 | PMID 32659294
Zhao Xuechao, Wang Yanhong, Mei Shiyue and 5 more
BCL11B-related disorder in two canadian children: Expanding the clinical phenotype.
European journal of medical genetics | 2020-09-01 | PMID 32659295
Prasad M, Balci T B, Prasad C and 7 more
Comparative pathogenicity of two closely related Newcastle disease virus isolates from chicken and pigeon respectively.
Virus research | 2020-09-01 | PMID 32659306
Zhan Tiansong, Hu Shunlin, Chen Yu and 9 more
Genome-wide analysis of Indian SARS-CoV-2 genomes for the identification of genetic mutation and SNP.
Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases | 2020-11-01 | PMID 32659347
Saha Indrajit, Ghosh Nimisha, Maity Debasree and 3 more
Sleep-related memory consolidation in the psychosis spectrum phenotype.
Neurobiology of learning and memory | 2020-10-01 | PMID 32659349
Purple R J, Cosgrave J, Vyazovskiy V and 3 more
A novel m.11406 T > A mutation in mitochondrial ND4 gene causes MELAS syndrome.
Mitochondrion | 2020-09-01 | PMID 32659360
Lin Yan, Xu Xuebi, Zhao Dandan and 7 more
Two siblings presenting with novel ADA2 variants, lymphoproliferation, persistence of large granular lymphocytes, and T-cell perturbations.
Clinical immunology (Orlando, Fla.) | 2020-09-01 | PMID 32659374
Saettini F, Fazio G, Corti P and 17 more
Structural and functional characterization of oligomeric states of proteins in RecFOR pathway.
International journal of biological macromolecules | 2020-11-15 | PMID 32659399
Chaudhary Santosh Kumar, Elayappan Mohanapriya, Jeyakanthan Jeyaraman and 1 more
Genetic variants in TKT and DERA in the nicotinamide adenine dinucleotide phosphate pathway predict melanoma survival.
European journal of cancer (Oxford, England : 1990) | 2020-09-01 | PMID 32659474
Gu Ning, Dai Wei, Liu Hongliang and 9 more
Genetic diversity, antimicrobial resistance and extended-spectrum β-lactamase type of Escherichia coli isolates from chicken, dog, pig and yak in Gansu and Qinghai Provinces, China.
Journal of global antimicrobial resistance | 2020-09-01 | PMID 32659505
Wang Yining, Zhou Jianhua, Li Xuerui and 14 more
Population-dependent migration shift caused by sequence variation at the alpha fibrinogen (FGA) short tandem repeat (STR) locus.
Forensic science international | 2020-09-01 | PMID 32659604
Ariel Tal, Dell'Ariccia-Carmon Aviva, Pasternak Zohar and 1 more
Design of antitumor drugs targeting c-kit receptor by a new mixed ligand-structure based method.
Journal of molecular graphics & modelling | 2020-11-01 | PMID 32659630
Martorana Annamaria, Lauria Antonino
The history behind the mosaic of the Americas.
Current opinion in genetics & development | 2020-06-01 | PMID 32659643
Mendes Marla, Alvim Isabela, Borda Victor and 1 more
IL-7R gene variants are associated with breast cancer susceptibility in Chinese Han women.
International immunopharmacology | 2020-09-01 | PMID 32659700
Wang Zhenghua, Wang Xiaoyu, Gao Yu and 4 more
Differences in DYF387S1 copy number distribution among haplogroups caused by haplogroup-specific ancestral Y-chromosome mutations.
Forensic science international. Genetics | 2020-09-01 | PMID 32659717
Watahiki Haruhiko, Fujii Koji, Fukagawa Takashi and 3 more
Measurements of the corpus callosum index and fractional anisotropy of the corpus callosum and their cutoff values are useful to assess global brain volume loss in multiple sclerosis.
Multiple sclerosis and related disorders | 2020-10-01 | PMID 32659734
Fujimori Juichi, Uryu Kengo, Fujihara Kazuo and 3 more
Comparative Functional Analysis in vitro of 2 COL4A5 Splicing Mutations at the Same Site in 2 Unrelated Alport Syndrome Chinese Families.
Cytogenetic and genome research | 2020-01-01 | PMID 32659759
Lv Xing, Wu Wei-Qing, Zhang Jia-Xun and 7 more
Outcome of Newborn Screening for Congenital Adrenal Hyperplasia at Two Time Points.
Hormone research in paediatrics | 2020-01-01 | PMID 32659761
Eshragh Nazaneen, Doan Luong Van, Connelly Kara J and 3 more
Lack of Association between LCT_rs140433552*CA>del Indel Polymorphism and Lactose Intolerance in a Southern Brazilian Population.
Lifestyle genomics | 2020-01-01 | PMID 32659776
Oliveira Luana Caroline, Dias Barros Andrey Lucas, Boldt Angelica Beate Winter and 1 more