Incontinentia pigmenti: Generation of an IKBKG deficient human iPSC line (KICRi002-A-1) on a 46,XY background using CRISPR/Cas9.
Stem cell research | 2020-04-01 | PMID 32126327
Fatima Ambrin, Schuster Jens, Akram Talia and 4 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 8069 of 10600
Aberrant DNA and histone methylation during zygotic genome activation in goat cloned embryos.
Theriogenology | 2020-05-01 | PMID 32126393
Deng Mingtian, Liu Zifei, Chen Baobao and 6 more
Two main mutational processes operate in the absence of DNA mismatch repair.
DNA repair | 2020-05-01 | PMID 32126497
Németh Eszter, Lovrics Anna, Gervai Judit Z and 4 more
Genomic diversity analysis and identification of novel SSR markers in four tobacco varieties by high-throughput resequencing.
Plant physiology and biochemistry : PPB | 2020-05-01 | PMID 32126511
Yang Huijuan, Geng Xinqi, Zhao Shimin and 1 more
A Preterm Infant with Multiple Anomalies Diagnosed with Atypical CHARGE Syndrome after a Novel CHD7 Variant Confirmed Using Whole-Genome Sequencing.
Neonatology | 2020-01-01 | PMID 32126561
Kim Hyun Ho, Kim Ah Reum, Kim Nayoung K D and 6 more
Salt-Inducible Kinase 3 Haplotypes Associated with Noise-Induced Hearing Loss in Chinese Workers.
Audiology & neuro-otology | 2020-01-01 | PMID 32126566
Yin Haoyang, Guo Jiadi, Ding Enmin and 3 more
The relationship between hyperbilirubinemia and the promoter region and first exon of UGT1A1 gene polymorphisms in Vietnamese newborns.
Pediatric research | 2020-12-01 | PMID 32126570
Nguyen Tien-Thanh, Zhao Wei, Yang Xi and 1 more
Gene Panel Testing in Hereditary Breast Cancer.
Archives of Iranian medicine | 2020-03-01 | PMID 32126783
Rostami Parvin, Zendehdel Kazem, Shirkoohi Reza and 6 more
Circulating HIV-1 Integrase Genotypes in Tanzania: Implication on the Introduction of Integrase Inhibitors-Based Antiretroviral Therapy Regimen.
AIDS research and human retroviruses | 2020-06-01 | PMID 32126792
Masoud Salim, Kamori Doreen, Barabona Godfrey and 4 more
Analysis of the Genetic Characteristics of a Chinese Family With Otosclerosis.
Ear, nose, & throat journal | 2021-09-01 | PMID 32126815
Zhang Yongli, Tang Qi, Xue Ruoyan and 3 more
A new genetic locus for antipsychotic-induced weight gain: A genome-wide study of first-episode psychosis patients using amisulpride (from the OPTiMiSE cohort).
Journal of psychopharmacology (Oxford, England) | 2020-05-01 | PMID 32126890
Ter Hark Sophie E, Jamain Stéphane, Schijven Dick and 12 more
Mate selection based on labile traits affects short-term fitness in a long-lived seabird.
Proceedings. Biological sciences | 2020-03-11 | PMID 32126956
González-Medina Erick, Castillo-Guerrero José Alfredo, Masero José A and 1 more
Genetic diversity, demographic history and neo-sex chromosomes in the Critically Endangered Raso lark.
Proceedings. Biological sciences | 2020-03-11 | PMID 32126957
Dierickx Elisa G, Sin Simon Yung Wa, van Veelen H Pieter J and 4 more
Modelling the effect of subcellular mutations on the migration of cells in the colorectal crypt.
BMC bioinformatics | 2020-03-03 | PMID 32126976
Romijn Lotte B, Almet Axel A, Tan Chin Wee and 1 more
CYP3A4 and CYP11A1 variants are risk factors for ischemic stroke: a case control study.
BMC neurology | 2020-03-04 | PMID 32126981
Gao Ning, Tang Hong, Gao Ling and 3 more
Molecular characterization of Plasmodium falciparum antifolate resistance markers in Thailand between 2008 and 2016.
Malaria journal | 2020-03-04 | PMID 32127009
Sugaram Rungniran, Suwannasin Kanokon, Kunasol Chanon and 6 more
Variants of uncertain significance in the era of high-throughput genome sequencing: a lesson from breast and ovary cancers.
Journal of experimental & clinical cancer research : CR | 2020-03-04 | PMID 32127026
Federici Giulia, Soddu Silvia
Functional polymorphism of PIN1 rs2233679 is associated with the progression of CIN to early cervical cancer in Hunan Chinese.
Taiwanese journal of obstetrics & gynecology | 2020-03-01 | PMID 32127141
Wang Kangtao, Fan Jielin, Lin Wenchao and 5 more
Several critical genes and microRNAs associated with the development of polycystic ovary syndrome.
Annales d'endocrinologie | 2020-02-01 | PMID 32127169
Wang Wei, Ji Juan, Li Jin and 6 more
Association of ABCB1 and VEGFA gene polymorphisms with breast cancer susceptibility and prognosis.
Pathology, research and practice | 2020-04-01 | PMID 32127237
Madrid-Paredes Adela, Casado-Combreras Miguel Ángel, Pérez-Ramírez Cristina and 6 more
Outcomes of Yttrium-90 Radioembolization for Unresectable Combined Biphenotypic Hepatocellular-Cholangiocarcinoma.
Journal of vascular and interventional radiology : JVIR | 2020-05-01 | PMID 32127318
Malone Christopher D, Gibby Wendell, Tsai Richard and 4 more
Association between lipids and apolipoproteins on type 2 diabetes risk; moderating effects of gender and polymorphisms; the ATTICA study.
Nutrition, metabolism, and cardiovascular diseases : NMCD | 2020-05-07 | PMID 32127339
Mellor Duane D, Georgousopoulou Ekavi N, D'Cunha Nathan M and 5 more
Risk SNP-Mediated Enhancer-Promoter Interaction Drives Colorectal Cancer through Both FADS2 and AP002754.2.
Cancer research | 2020-05-01 | PMID 32127356
Tian Jianbo, Lou Jiao, Cai Yimin and 12 more
Transitions between the steps of forward and reverse splicing of group IIC introns.
RNA (New York, N.Y.) | 2020-05-01 | PMID 32127385
Smathers Claire M, Robart Aaron R
Collaborative Cross Mice Yield Genetic Modifiers for Pseudomonas aeruginosa Infection in Human Lung Disease.
mBio | 2020-03-03 | PMID 32127447
Lorè Nicola Ivan, Sipione Barbara, He Gengming and 6 more
Direct Observation of the Dynamics of Single-Cell Metabolic Activity during Microbial Diauxic Growth.
mBio | 2020-03-03 | PMID 32127448
McClelland H L O, Jones C, Chubiz L M and 2 more
Diversity and Complexity of the Large Surface Protein Family in the Compacted Genomes of Multiple Pneumocystis Species.
mBio | 2020-03-03 | PMID 32127451
Ma Liang, Chen Zehua, Huang Da Wei and 30 more
Parallel Genomics Uncover Novel Enterococcal-Bacteriophage Interactions.
mBio | 2020-03-03 | PMID 32127456
Chatterjee Anushila, Willett Julia L E, Nguyen Uyen Thy and 4 more
Peptidoglycan Hydrolases RipA and Ami1 Are Critical for Replication and Persistence of Mycobacterium tuberculosis in the Host.
mBio | 2020-03-03 | PMID 32127458
Healy Claire, Gouzy Alexandre, Ehrt Sabine
Obesity-Related Microenvironment Promotes Emergence of Virulent Influenza Virus Strains.
mBio | 2020-03-03 | PMID 32127459
Honce Rebekah, Karlsson Erik A, Wohlgemuth Nicholas and 4 more
The HIV-1 Accessory Protein Vpu Downregulates Peroxisome Biogenesis.
mBio | 2020-03-03 | PMID 32127461
Xu Zaikun, Lodge Robert, Power Christopher and 2 more
Composition-based prediction and rational manipulation of prion-like domain recruitment to stress granules.
Proceedings of the National Academy of Sciences of the United States of America | 2020-03-17 | PMID 32127480
Boncella Amy E, Shattuck Jenifer E, Cascarina Sean M and 5 more
Molecular and cellular determinants of motor asymmetry in zebrafish.
Nature communications | 2020-03-03 | PMID 32127541
Horstick Eric J, Bayleyen Yared, Burgess Harold A
Transcriptomic resources for evolutionary studies in flat periwinkles and related species.
Scientific data | 2020-03-03 | PMID 32127542
Marques João P, Sotelo Graciela, Galindo Juan and 8 more
Genome-wide analysis of the HSP101/CLPB gene family for heat tolerance in hexaploid wheat.
Scientific reports | 2020-03-03 | PMID 32127546
Erdayani Eva, Nagarajan Ragupathi, Grant Nathan P and 1 more
Mathematical model of broadly reactive plasma cell production.
Scientific reports | 2020-03-03 | PMID 32127549
Erwin Samantha, Childs Lauren M, Ciupe Stanca M
Evolutionary Traits that Enable Scleractinian Corals to Survive Mass Extinction Events.
Scientific reports | 2020-03-03 | PMID 32127555
Dishon Gal, Grossowicz Michal, Krom Michael and 3 more
Development of genetic quality tests for good manufacturing practice-compliant induced pluripotent stem cells and their derivatives.
Scientific reports | 2020-03-03 | PMID 32127560
Jo Hye-Yeong, Han Hyo-Won, Jung Inuk and 11 more
Structure and mechanism of a redesigned multidrug transporter from the Major Facilitator Superfamily.
Scientific reports | 2020-03-03 | PMID 32127561
Wu Hsin-Hui, Symersky Jindrich, Lu Min
Micromonospora zhangzhouensis sp. nov., a Novel Actinobacterium Isolated from Mangrove Soil, Exerts a Cytotoxic Activity in vitro.
Scientific reports | 2020-03-03 | PMID 32127574
Fu Geyi, Wang Ruijun, Ding Jinglin and 7 more
CTLA-4 blockade boosts the expansion of tumor-reactive CD8+ tumor-infiltrating lymphocytes in ovarian cancer.
Scientific reports | 2020-03-03 | PMID 32127601
Friese Christina, Harbst Katja, Borch Troels Holz and 7 more
An atlas of evidence-based phenotypic associations across the mouse phenome.
Scientific reports | 2020-03-03 | PMID 32127602
Tanaka Nobuhiko, Masuya Hiroshi
A novel biallelic single base insertion in WNK1 in a Pakistani family with congenital insensitivity to pain.
Journal of human genetics | 2020-05-01 | PMID 32127623
Pastore Stephen, Harripaul Ricardo, Azam Matloob and 1 more
Collective effects of long-range DNA methylations predict gene expressions and estimate phenotypes in cancer.
Scientific reports | 2020-03-03 | PMID 32127627
Kim Soyeon, Park Hyun Jung, Cui Xiangqin and 1 more
Comprehensive diagnostics of acute myeloid leukemia by whole transcriptome RNA sequencing.
Leukemia | 2021-01-01 | PMID 32127641
Arindrarto Wibowo, Borràs Daniel M, de Groen Ruben A L and 23 more
The shape of a defense-growth trade-off governs seasonal trait dynamics in natural phytoplankton.
The ISME journal | 2020-06-01 | PMID 32127656
Ehrlich Elias, Kath Nadja J, Gaedke Ursula
Deleting key autophagy elongation proteins induces acquirement of tumor-associated phenotypes via ISG15.
Cell death and differentiation | 2020-08-01 | PMID 32127658
Kong EunBin, Kim Hag Dong, Kim Joon
Integration of single nucleotide variants and whole-genome DNA methylation profiles for classification of rheumatoid arthritis cases from controls.
Heredity | 2020-05-01 | PMID 32127659
Amiri Roudbar Mahmoud, Mohammadabadi Mohammad Reza, Ayatollahi Mehrgardi Ahmad and 6 more
CYP27B1 as an instrument gene to investigate the causal relationship between vitamin D deficiency and obesity: a family-based study.
European journal of clinical nutrition | 2020-05-01 | PMID 32127688
Yu Songcheng, Feng Yinhua, Qu Chenling and 5 more
ABCB1 variants C3435T and T129C are not associated with colorectal cancer risk.
African health sciences | 2019-09-01 | PMID 32127820
Al Qahtani Areej M, Al-Ghafari Ayat B, Al Doghaither Huda A and 3 more
Association between the UBE2Z rs46522 and TCF7L2 rs7903146 polymorphisms with type 2 diabetes in south western Iran.
African health sciences | 2019-09-01 | PMID 32127821
Foroughmand Ali Mohammad, Shafidelpour Sana, Zakerkish Merhrnoosh and 1 more
Prevalence and associated factors of hypertension in Amhara regional state city and its' surrounding rural districts: a community-based cross-sectional study.
African health sciences | 2019-09-01 | PMID 32127831
Tesfaye Tadesse Dagget, Temesgen Worku Animaw, Kasa Ayele Semachew and 1 more
Association of Vitamin D deficiency and Vitamin D Receptor Gene Polymorphisms with Type 2 diabetes mellitus Saudi patients.
African health sciences | 2019-12-01 | PMID 32127856
Al-Hazmi Ayman S
High risk human papilloma virus (HPV) common among a cohort of women with female genital mutilation.
African health sciences | 2019-12-01 | PMID 32127873
Ogah Jeremiah, Kolawole Olatunji, Awelimobor Daniel
Immunoglobulin heavy variable (IgHV) gene mutation and micro-RNA expression in Burkitt's lymphoma at Moi Teaching and Referral Hospital in Western Kenya.
African health sciences | 2019-12-01 | PMID 32127902
Ndede Isaac, Mining S K, Patel K and 2 more
Glycosylation of immunoglobulin G is regulated by a large network of genes pleiotropic with inflammatory diseases.
Science advances | 2020-02-01 | PMID 32128391
Klarić Lucija, Tsepilov Yakov A, Stanton Chloe M and 50 more
The hidden costs of dietary restriction: Implications for its evolutionary and mechanistic origins.
Science advances | 2020-02-01 | PMID 32128403
McCracken Andrew W, Adams Gracie, Hartshorne Laura and 2 more
Intrinsic disorder controls two functionally distinct dimers of the master transcription factor PU.1.
Science advances | 2020-02-01 | PMID 32128405
Xhani Suela, Lee Sangchoon, Kim Hye Mi and 9 more
Enhanced CRISPR-Cas9 correction of Duchenne muscular dystrophy in mice by a self-complementary AAV delivery system.
Science advances | 2020-02-01 | PMID 32128412
Zhang Yu, Li Hui, Min Yi-Li and 8 more
In-Depth Study of a Nosocomial Outbreak Caused by Extensively Drug-Resistant Pseudomonas aeruginosa Using Whole Genome Sequencing Coupled With a Polymerase Chain Reaction Targeting Strain-Specific Single Nucleotide Polymorphisms.
American journal of epidemiology | 2020-08-01 | PMID 32128575
Acosta Fermín, Fernández-Cruz Ana, Maus Sandra R and 7 more
The Effects of Graded Levels of Calorie Restriction XV: Phase Space Attractors Reveal Distinct Behavioral Phenotypes.
The journals of gerontology. Series A, Biological sciences and medical sciences | 2020-04-17 | PMID 32128585
Sun Deshun, Liu Fei, Mitchell Sharon E and 9 more
Impact of Long-Term Copper Exposure on Growth, Photosynthesis, Antioxidant Defence System and Artemisinin Biosynthesis in Soil-Grown Artemisia annua Genotypes.
Bulletin of environmental contamination and toxicology | 2020-05-01 | PMID 32128603
Zehra Andleeb, Choudhary Sadaf, Mukarram Mohammad and 3 more
Changes in morphogenesis and carotenogenesis to influence polygalacturonase secretion in Aspergillus carbonarius mutant.
Archives of microbiology | 2020-08-01 | PMID 32128608
Mathimaran Ahila, Kumar Anbarasu
Genetic diversity of strawberry mild yellow edge virus from eastern Canada.
Archives of virology | 2020-04-01 | PMID 32128611
Xiang Yu, Nie Xianzhou, Bernardy Mike and 7 more
CNP deficiency causes severe hypomyelinating leukodystrophy in humans.
Human genetics | 2020-05-01 | PMID 32128616
Al-Abdi Lama, Al Murshedi Fathiya, Elmanzalawy Alaa and 6 more
Molecular genetics of leaf rust resistance in wheat and barley.
TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik | 2020-07-01 | PMID 32128617
Dinh Hoan X, Singh Davinder, Periyannan Sambasivam and 2 more
Emergence of vancomycin-resistant Enterococcus faecium ST1421 lacking the pstS gene in Korea.
European journal of clinical microbiology & infectious diseases : official publication of the European Society of Clinical Microbiology | 2020-07-01 | PMID 32128641
Kim Hye Mee, Chung Doo Ryeon, Cho Sun Young and 3 more
The Impact of KRAS Mutation on the Presentation and Prognosis of Non-Metastatic Colon Cancer: an Analysis from the National Cancer Database.
Journal of gastrointestinal surgery : official journal of the Society for Surgery of the Alimentary Tract | 2020-06-01 | PMID 32128676
Scott Aaron, Goffredo Paolo, Ginader Timothy and 5 more
[Clinical practice guidelines for albinism].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2020-03-10 | PMID 32128740
Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association, Li Wei, Wei Aihua and 3 more
[Clinical practice guidelines for Duchenne muscular dystrophy].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2020-03-10 | PMID 32128741
Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association, Tan Hu, Liang Desheng and 1 more
[Clinical practice guidelines for spinal muscular atrophy].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2020-03-10 | PMID 32128742
Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association, Pan Jianyan, Tan Hu and 3 more
[Clinical practice guidelines for hereditary non-syndromic deafness].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2020-03-10 | PMID 32128743
Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association, Yuan Huijun, Dai Pu and 2 more
[Clinical practice guidelines for polycystic kidney diseases].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2020-03-10 | PMID 32128744
Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association, Xu Dechao, Mei Changlin
[Clinical practice guidelines for Leber's hereditary optic neuropathy].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2020-03-10 | PMID 32128745
Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association, Jiang Pingping, Wang Jianyong and 2 more
[Clinical practice guidelines for Rett syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2020-03-10 | PMID 32128749
Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association, Guan Rongwei, Li Qiuyan and 1 more
[Clinical practice guidelines for Noonan syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2020-03-10 | PMID 32128752
Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association, Li Xin, Wang Xiumin and 5 more
[Clinical practice guidelines for single gene glaucoma disorder].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2020-03-10 | PMID 32128753
Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association, Yang Zhenglin, Yang Jiyun and 2 more
[A consensus on the standardization of the next generation sequencing process for the diagnosis of genetic diseases (1) - Procedures prior to genetic testing].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2020-03-10 | PMID 32128754
Wang Jian, Gu Weihong, Huang Hui and 18 more
A Genome-wide Association Study of Circulating Levels of Atorvastatin and Its Major Metabolites.
Clinical pharmacology and therapeutics | 2020-08-01 | PMID 32128760
Turner Richard M, Fontana Vanessa, Zhang Jieying E and 5 more
On the logic of Fisherian sexual selection.
Evolution; international journal of organic evolution | 2020-07-01 | PMID 32128812
Veller Carl, Muralidhar Pavitra, Haig David
Secreted stromal protein ISLR promotes intestinal regeneration by suppressing epithelial Hippo signaling.
The EMBO journal | 2020-04-01 | PMID 32128839
Xu Jiuzhi, Tang Yang, Sheng Xiaole and 18 more
Biomarkers for Early Cancer Diagnosis: Prospects for Success through the Lens of Tumor Genetics.
BioEssays : news and reviews in molecular, cellular and developmental biology | 2020-04-01 | PMID 32128843
Dragani Tommaso A, Matarese Valerie, Colombo Francesca
Rare variants and biological pathways identified in treatment-refractory depression.
Journal of neuroscience research | 2020-07-01 | PMID 32128872
McClain Lora Lee, Shaw Patricia, Sabol Roisin and 6 more
Artificial intelligence as the next step towards precision pathology.
Journal of internal medicine | 2020-07-01 | PMID 32128929
Acs B, Rantalainen M, Hartman J
Neural network correlates of high-altitude adaptive genetic variants in Tibetans: A pilot, exploratory study.
Human brain mapping | 2020-06-15 | PMID 32128935
Guo Zhiyue, Fan Cunxiu, Li Ting and 7 more
Expanding the phenotypic and genotypic spectrum of Wiedemann-Steiner syndrome: First patient from India.
American journal of medical genetics. Part A | 2020-05-01 | PMID 32128942
Arora Veronica, Puri Ratna D, Bijarnia-Mahay Sunita and 1 more
BK polyomavirus diversity-Why viral variation matters.
Reviews in medical virology | 2020-07-01 | PMID 32128960
Blackard Jason T, Davies Stella M, Laskin Benjamin L
A novel nonsense mutation in the L1CAM gene responsible for X-linked congenital hydrocephalus.
The journal of gene medicine | 2020-07-01 | PMID 32128973
Guo Dewei, Shi Yuting, Jian Wenyan and 9 more
Tobacco etch virus (TEV) protease with multiple mutations to improve solubility and reduce self-cleavage exhibits enhanced enzymatic activity.
FEBS open bio | 2020-04-01 | PMID 32129006
Nam Heejin, Hwang Beom J, Choi Deog-Young and 2 more
Association analysis of potentially functional variants within 8p12 with schizophrenia in the Han Chinese population.
The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry | 2021-01-01 | PMID 32129128
Chen Ruirui, Chen Jianhua, Gao Chengwen and 13 more
Structural dynamics of inosine triphosphate pyrophosphatase (ITPA) protein and two clinically relevant mutants: molecular dynamics simulations.
Journal of biomolecular structure & dynamics | 2021-03-01 | PMID 32129147
Houndonougbo Yao, Pugh Bethany, VanWormer Kandise and 2 more
NPHS2 gene mutations in azerbaijani children with steroid-resistant nephrotic syndrome.
Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia | 2000-01-01 | PMID 32129207
Baylarov Rauf, Senol Ozgur, Atan Merve and 1 more
Persistent hypokalemia due to a rare mutation in gitelman's syndrome.
Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia | 2000-01-01 | PMID 32129221
Mamalis Dimitrios, Stratigou Theodora, Vallianou Natalia G and 2 more
The Relationship Between Tumor Necrosis Factor-Alpha (-308G/A, +488G/A, -857C/T, and -1031T/C) Gene Polymorphisms and Risk of Intracerebral Hemorrhage in the North Indian Population: A Hospital-Based Case-Control Study.
Neurology India | 2000-01-01 | PMID 32129250
Kumar Pradeep, Misra Shubham, Kumar Amit and 4 more
Novel mutation in the nuclear receptor subfamily 0, group B, member 1 (NR0B1) gene associated with intrafamilial heterogeneity in three boys with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism from India.
The National medical journal of India | 2000-01-01 | PMID 32129306
Mohan Sony, Danda Sumita, Mathai Sarah and 1 more
Mice carrying an analogous heterozygous dynamin 2 K562E mutation that causes neuropathy in humans develop predominant characteristics of a primary myopathy.
Human molecular genetics | 2020-05-28 | PMID 32129442
Pereira Jorge A, Gerber Joanne, Ghidinelli Monica and 11 more
Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature.
Human molecular genetics | 2020-05-08 | PMID 32129449
Ansar Muhammad, Ebstein Frédéric, Özkoç Hayriye and 11 more
EF hand-like motif mutations of Nav1.4 C-terminus cause myotonic syndrome by impairing fast inactivation.
Muscle & nerve | 2020-06-01 | PMID 32129495
Horie Riho, Kubota Tomoya, Koh Jinsoo and 5 more
Frequency of CD36 deficiency in Thais analyzed by quantification of CD36 on cell surfaces and in plasma.
Transfusion | 2020-04-01 | PMID 32129498
Phuangtham Roongaroon, Santoso Sentot, Leelayuwat Chanvit and 3 more
Quasispecies dynamics of a hepatitis E virus 4 from the feces and liver biopsy of an acute hepatitis E patient during virus clearance.
Journal of medical virology | 2020-12-01 | PMID 32129506
Mei Xue, Dai Fahui, Zou Jingyi and 4 more