From Polygenic Scores to Precision Medicine in Alzheimer's Disease: A Systematic Review.
Journal of Alzheimer's disease : JAD | 2020-01-01 | PMID 32250305
Harrison Judith R, Mistry Sumit, Muskett Natalie and 1 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 8104 of 10600
Interaction between Apolipoprotein E and Butyrylcholinesterase Genes on Risk of Alzheimer's Disease in a Prospective Cohort Study.
Journal of Alzheimer's disease : JAD | 2020-01-01 | PMID 32250307
Chuang Yi-Fang, Varma Vijay, An Yang and 4 more
P301 L, an FTDP-17 Mutant, Exhibits Enhanced Glycation in vitro.
Journal of Alzheimer's disease : JAD | 2020-01-01 | PMID 32250308
Sonawane Shweta Kishor, Chinnathambi Subashchandrabose
Human Peripheral Blood Neutrophil Isolation for Interrogating the Parkinson's Associated LRRK2 Kinase Pathway by Assessing Rab10 Phosphorylation.
Journal of visualized experiments : JoVE | 2020-03-21 | PMID 32250352
Fan Ying, Tonelli Francesca, Padmanabhan Shalini and 7 more
Studying Triple Negative Breast Cancer Using Orthotopic Breast Cancer Model.
Journal of visualized experiments : JoVE | 2020-03-20 | PMID 32250353
Cheng Robert Y S, Patel Nimit L, Back Timothy and 5 more
Transduction and Expansion of Primary T Cells in Nine Days with Maintenance of Central Memory Phenotype.
Journal of visualized experiments : JoVE | 2020-03-18 | PMID 32250358
Pampusch Mary S, Skinner Pamela J
The phenotype of adverse drug effects: Do emergency visits due to adverse drug reactions look different in older people? Results from the ADRED study.
British journal of clinical pharmacology | 2020-11-01 | PMID 32250457
Just Katja S, Dormann Harald, Schurig Marlen and 11 more
SOD1 p.D12Y variant is associated with amyotrophic lateral sclerosis/distal myopathy spectrum.
European journal of neurology | 2020-07-01 | PMID 32250500
Tasca G, Lattante S, Marangi G and 8 more
Recessive congenital myasthenic syndrome caused by a homozygous mutation in SYT2 altering a highly conserved C-terminal amino acid sequence.
American journal of medical genetics. Part A | 2020-07-01 | PMID 32250532
Maselli Ricardo A, van der Linden Hélio, Ferns Michael
Fatal hyperkeratosis syndrome in four siblings due to dolichol kinase deficiency.
American journal of medical genetics. Part A | 2020-06-01 | PMID 32250540
Hall Bryan D, Stevenson Roger E, Jones Julie R
Identification of the Clinical Development Candidate MRTX849, a Covalent KRASG12C Inhibitor for the Treatment of Cancer.
Journal of medicinal chemistry | 2020-07-09 | PMID 32250617
Fell Jay B, Fischer John P, Baer Brian R and 31 more
Analyses of the Genetic Polymorphisms rs3740199 and rs1871054 of the ADAM12 Gene and the Alleles at the rs2073508 Loci of the TGFB1 Gene and Their Contribution to Susceptibility to Primary Knee Osteoarthritis.
Genetic testing and molecular biomarkers | 2020-06-01 | PMID 32250658
Aguilar Muñiz Lizette Sarai, González Galarza Faviel Francisco, Arguello Astorga Rafael and 6 more
Molecular regulation of vascular smooth muscle cell phenotype switching by trophoblast cells at the maternal-fetal interface.
Placenta | 2020-04-01 | PMID 32250741
Nandy Debdyuti, Das Shreya, Islam Safirul and 1 more
Are we designing fishways for diversity? Potential selection on alternative phenotypes resulting from differential passage in brown trout.
Journal of environmental management | 2020-05-15 | PMID 32250800
Lothian Angus J, Schwinn Michael, Anton A Harrison and 4 more
Report From the International Society of Urological Pathology (ISUP) Consultation Conference on Molecular Pathology of Urogenital Cancers: III: Molecular Pathology of Kidney Cancer.
The American journal of surgical pathology | 2020-07-01 | PMID 32251007
Williamson Sean R, Gill Anthony J, Argani Pedram and 5 more
Family History of Colorectal or Esophageal Cancer in Barrett's Esophagus and Potentially Explanatory Genetic Variants.
Clinical and translational gastroenterology | 2020-04-01 | PMID 32251017
Rubenstein Joel H, Tavakkoli Anna, Koeppe Erika and 8 more
8q24 genetic variation and comprehensive haplotypes altering familial risk of prostate cancer.
Nature communications | 2020-03-23 | PMID 32251286
Dupont William D, Breyer Joan P, Plummer W Dale and 6 more
Developing a highly efficient hydroxytyrosol whole-cell catalyst by de-bottlenecking rate-limiting steps.
Nature communications | 2020-03-23 | PMID 32251291
Yao Jun, He Yang, Su Nannan and 6 more
Fungal kinases and transcription factors regulating brain infection in Cryptococcus neoformans.
Nature communications | 2020-03-23 | PMID 32251295
Lee Kyung-Tae, Hong Joohyeon, Lee Dong-Gi and 11 more
Integrative analyses indicate an association between ITIH3 polymorphisms with autism spectrum disorder.
Scientific reports | 2020-03-23 | PMID 32251353
Xie Xinyan, Meng Heng, Wu Hao and 8 more
Loss of lenalidomide-induced megakaryocytic differentiation leads to therapy resistance in del(5q) myelodysplastic syndrome.
Nature cell biology | 2020-05-01 | PMID 32251398
Martinez-Høyer Sergio, Deng Yu, Parker Jeremy and 14 more
Trans-biobank analysis with 676,000 individuals elucidates the association of polygenic risk scores of complex traits with human lifespan.
Nature medicine | 2020-04-01 | PMID 32251405
Sakaue Saori, Kanai Masahiro, Karjalainen Juha and 11 more
Single-cell mapping reveals new markers and functions of lymphatic endothelial cells in lymph nodes.
PLoS biology | 2020-04-01 | PMID 32251437
Fujimoto Noriki, He Yuliang, D'Addio Marco and 3 more
Exploring individual variation in associative learning abilities through an operant conditioning task in wild baboons.
PloS one | 2020-01-01 | PMID 32251443
Martina Claudia, Cowlishaw Guy, Carter Alecia J
Donor-derived IL-17A and IL-17F deficiency triggers Th1 allo-responses and increases gut leakage during acute GVHD.
PloS one | 2020-01-01 | PMID 32251446
Odak Ivan, Depkat-Jakob Alina, Beck Maleen and 8 more
Integrating GWAS with bulk and single-cell RNA-sequencing reveals a role for LY86 in the anti-Candida host response.
PLoS pathogens | 2020-04-01 | PMID 32251450
de Vries Dylan H, Matzaraki Vasiliki, Bakker Olivier B and 6 more
Comparative genomics and full-length Tprk profiling of Treponema pallidum subsp. pallidum reinfection.
PLoS neglected tropical diseases | 2020-04-01 | PMID 32251462
Addetia Amin, Tantalo Lauren C, Lin Michelle J and 4 more
Complementary computational and experimental evaluation of missense variants in the ROMK potassium channel.
PLoS computational biology | 2020-04-01 | PMID 32251469
Ponzoni Luca, Nguyen Nga H, Bahar Ivet and 1 more
Biological functions of the autophagy-related proteins Atg4 and Atg8 in Cryptococcus neoformans.
PloS one | 2020-01-01 | PMID 32251488
Roberto Thiago Nunes, Lima Ricardo Ferreira, Pascon Renata Castiglioni and 2 more
MaveQuest: a web resource for planning experimental tests of human variant effects.
Bioinformatics (Oxford, England) | 2020-06-01 | PMID 32251504
Kuang Da, Weile Jochen, Li Roujia and 3 more
Heritable arrhythmia syndromes associated with abnormal cardiac sodium channel function: ionic and non-ionic mechanisms.
Cardiovascular research | 2020-07-15 | PMID 32251506
Rivaud Mathilde R, Delmar Mario, Remme Carol Ann
Single-cell RNA sequencing of murine islets shows high cellular complexity at all stages of autoimmune diabetes.
The Journal of experimental medicine | 2020-06-01 | PMID 32251514
Zakharov Pavel N, Hu Hao, Wan Xiaoxiao and 1 more
PRDM16 suppresses HIF-targeted gene expression in kidney cancer.
The Journal of experimental medicine | 2020-06-01 | PMID 32251515
Kundu Anirban, Nam Hyeyoung, Shelar Sandeep and 12 more
Gene disruption of medaka (Oryzias latipes) orthologue for mammalian tissue-type transglutaminase (TG2) causes movement retardation.
Journal of biochemistry | 2020-09-01 | PMID 32251518
Watanabe Yuko, Okuya Kazuho, Takada Yuki and 9 more
Murine Tissue-Resident PDGFRα+ Fibro-Adipogenic Progenitors Spontaneously Acquire Osteogenic Phenotype in an Altered Inflammatory Environment.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research | 2020-08-01 | PMID 32251540
Eisner Christine, Cummings Michael, Johnston Gabrielle and 4 more
[Role of sperm genetic abnormality in recurrent pregnancy loss: An update].
Zhonghua nan ke xue = National journal of andrology | 2019-12-01 | PMID 32251566
Liang Wei-Ning, Xue Song, Shang Xue-Jun
The diagnostic accuracy of maternal serum alpha-fetoprotein variants (AFP-L2 and AFP-L3) in predicting fetal open neural tube defects and abdominal wall defects.
Clinica chimica acta; international journal of clinical chemistry | 2020-08-01 | PMID 32251652
Chen Yiming, Wang Xue, Lu Sha and 3 more
Piezo1 is required for outflow tract and aortic valve development.
Journal of molecular and cellular cardiology | 2020-06-01 | PMID 32251670
Faucherre Adèle, Moha Ou Maati Hamid, Nasr Nathalie and 10 more
Identification of SclB, a Zn(II)2Cys6 transcription factor involved in sclerotium formation in Aspergillus niger.
Fungal genetics and biology : FG & B | 2020-06-01 | PMID 32251730
Jørgensen Thomas R, Burggraaf Anne-Marie, Arentshorst Mark and 11 more
Viral RNA structure analysis using DMS-MaPseq.
Methods (San Diego, Calif.) | 2020-11-01 | PMID 32251733
Tomezsko Phillip, Swaminathan Harish, Rouskin Silvi
Prediction of the hidden genotype of mixed infection strains in Iranian tuberculosis patients.
International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases | 2020-06-01 | PMID 32251801
Kargarpour Kamakoli Mansour, Farmanfarmaei Ghazaleh, Masoumi Morteza and 7 more
Human Bocavirus genotypes 1 and 2 detected in younger Amazonian children with acute gastroenteritis or respiratory infections, respectively.
International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases | 2020-06-01 | PMID 32251804
Leitão Gabriel Azevedo Alves, Olivares Alberto Ignácio Olivares, Pimenta Yan Cardoso and 4 more
Sperm motility modulated by Trpv1 regulates zebrafish fertilization.
Theriogenology | 2020-07-15 | PMID 32251938
Chen Ying, Wang Hantsing, Wang Fang and 6 more
Large scale screening for benzimidazole resistance mutations in Nematodirus battus, using both pyrosequence genotyping and deep amplicon sequencing, indicates the early emergence of resistance on UK sheep farms.
International journal for parasitology. Drugs and drug resistance | 2020-04-01 | PMID 32251964
Melville Lynsey A, Redman Elizabeth, Morrison Alison A and 9 more
Loss of inner hair cell ribbon synapses and auditory nerve fiber regression in Cldn14 knockout mice.
Hearing research | 2020-06-01 | PMID 32251970
Claußen Maike, Schulze Jennifer, Nothwang Hans Gerd
Polymorphisms in Glycolysis-Related Genes Are Associated with Clinical Outcomes of Paclitaxel-Cisplatin Chemotherapy in Non-Small Cell Lung Cancer.
Oncology | 2020-01-01 | PMID 32252059
Choi Sun Ha, Jin Cheng Cheng, Do Sook Kyung and 16 more
[Performance of human papillomavirus typing test in cervical precancer lesions and cervical cancer screening].
Zhonghua zhong liu za zhi [Chinese journal of oncology] | 2020-03-23 | PMID 32252206
Zhang S K, Luo X P, Li Z F and 9 more
Distinct Contributions of Different Domains within the HIV-1 Gag Polyprotein to Specific and Nonspecific Interactions with RNA.
Viruses | 2020-04-02 | PMID 32252233
Kroupa Tomas, Datta Siddhartha A K, Rein Alan
MTA, an RNA m6A Methyltransferase, Enhances Drought Tolerance by Regulating the Development of Trichomes and Roots in Poplar.
International journal of molecular sciences | 2020-04-02 | PMID 32252292
Lu Liang, Zhang Yan, He Qizouhong and 6 more
Meiotic Chromosome Contacts as a Plausible Prelude for Robertsonian Translocations.
Genes | 2020-04-02 | PMID 32252399
Matveevsky Sergey, Kolomiets Oxana, Bogdanov Aleksey and 2 more
Cyclin-Dependent Kinase Inhibitor Gene TaICK1 acts as a Potential Contributor to Wheat Male Sterility induced by a Chemical Hybridizing Agent.
International journal of molecular sciences | 2020-04-02 | PMID 32252420
Zhang Lili, Wang Chaojie, Yu Yongang and 12 more
Short Histone H2A Variants: Small in Stature but not in Function.
Cells | 2020-04-02 | PMID 32252453
Jiang Xuanzhao, Soboleva Tatiana A, Tremethick David J
Transitional States in Ligand-Dependent Transformation of the Aryl Hydrocarbon Receptor into Its DNA-Binding Form.
International journal of molecular sciences | 2020-04-02 | PMID 32252465
Soshilov Anatoly A, Motta Stefano, Bonati Laura and 1 more
Impact of Type 2 Diabetes Mellitus on Human Bone Marrow Stromal Cell Number and Phenotypic Characteristics.
International journal of molecular sciences | 2020-04-02 | PMID 32252490
Cassidy Féaron C, Shortiss Ciara, Murphy Colin G and 5 more
A Likely Role for a Novel Cell Therapeutic Target of Transforming Growth Factor-β1 on Radiation Pneumonitis in Lung and Nasopharyngeal Cancer Patients.
Cell transplantation | 2000-01-01 | PMID 32252552
Yin Qin, Zhu Bing, Zhang Jixian and 2 more
Hepatocellular carcinoma occurs frequently and early after treatment in HCV genotype 3 infected persons treated with DAA regimens.
BMC gastroenterology | 2020-04-06 | PMID 32252635
Tayyab Ghias Un Nabi, Rasool Shafqat, Nasir Bilal and 3 more
Association between FCGR2A rs1801274 and MUC5B rs35705950 variations and pneumonia susceptibility.
BMC medical genetics | 2020-04-06 | PMID 32252656
Shi Xueshu, Ma Yue, Li Haiyan and 1 more
New genetic variant in the SERPINC1 gene: hereditary Antithrombin deficiency case report, familial thrombosis and considerations on genetic counseling.
BMC medical genetics | 2020-04-06 | PMID 32252658
Polyak Margarita E, Zaklyazminskaya Elena V
Case reports: three novel variants in PCCA and PCCB genes in Chinese patients with propionic acidemia.
BMC medical genetics | 2020-04-06 | PMID 32252659
Yang Qi, Xu Hong, Luo Jingsi and 6 more
Polymorphous low-grade neuroepithelial tumor of the young: case report and review focus on the radiological features and genetic alterations.
BMC neurology | 2020-04-06 | PMID 32252664
Chen Yingqian, Tian Tian, Guo Xinwen and 4 more
The DNA hypermethylation phenotype of colorectal cancer liver metastases resembles that of the primary colorectal cancers.
BMC cancer | 2020-04-06 | PMID 32252665
Orjuela Stephany, Menigatti Mirco, Schraml Peter and 3 more
E. coli diversity: low in colorectal cancer.
BMC medical genomics | 2020-04-06 | PMID 32252754
Tang Le, Zhou Yu-Jie, Zhu Songling and 23 more
The benign c.344G > A: p.(Arg115His) variant in the LDLR gene interpreted from a pedigree-based genetic analysis of familial hypercholesterolemia.
Lipids in health and disease | 2020-04-06 | PMID 32252761
Hori Mika, Takahashi Atsushi, Son Cheol and 2 more
Leveraging biological and statistical covariates improves the detection power in epigenome-wide association testing.
Genome biology | 2020-04-06 | PMID 32252795
Huang Jinyan, Bai Ling, Cui Bowen and 7 more
The association of genetic polymorphisms in interleukin-1 receptors type 1 and type 2 with age-related hearing impairment in a Taiwanese population: a case control study.
Journal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-faciale | 2020-04-06 | PMID 32252823
Chang Ning-Chia, Yang Hua-Ling, Dai Chia-Yen and 4 more
Independent evolution of ancestral and novel defenses in a genus of toxic plants (Erysimum, Brassicaceae).
eLife | 2020-04-07 | PMID 32252891
Züst Tobias, Strickler Susan R, Powell Adrian F and 14 more
Ferrocene-labeled and purification-free electrochemical biosensor based on ligase chain reaction for ultrasensitive single nucleotide polymorphism detection.
Analytica chimica acta | 2020-05-01 | PMID 32252909
Hu Fang, Zhang Wancun, Meng Wei and 5 more
AA amyloidosis revealing mevalonate kinase deficiency: A report of 20 cases including two new French cases and a comprehensive review of literature.
Seminars in arthritis and rheumatism | 2020-12-01 | PMID 32252977
Rodrigues François, Philit Jean-Baptiste, Giurgea Irina and 6 more
Sensory neuronopathy as a major clinical feature of mitochondrial trifunctional protein deficiency in adults.
Revue neurologique | 2020-05-01 | PMID 32253025
Nadjar Y, Souvannanorath S, Maisonobe T and 7 more
The cis-encoded antisense RNA IsrA from Salmonella Typhimurium represses the expression of STM0294.1n (iasE), an SOS-induced gene coding for an endoribonuclease activity.
Biochemical and biophysical research communications | 2020-06-04 | PMID 32253028
Acuña Lillian G, Barros M José, Nuñez Paula and 7 more
Thermal stressed human immunodeficiency virus type 1 nucleocapsid protein NCp7 maintains nucleic acid-binding activity.
Biochemical and biophysical research communications | 2020-06-04 | PMID 32253032
Guo Chao, Han Jingwen, Liu Yan and 2 more
An assessment of the production, reproduction, and functional traits of Holstein-Friesian, Jersey × Holstein-Friesian, and Norwegian Red × (Jersey × Holstein-Friesian) cows in pasture-based systems.
Journal of dairy science | 2020-06-01 | PMID 32253035
McClearn B, Delaby L, Gilliland T J and 5 more
Using Monte Carlo method to include polygenic effects in calculation of SNP-BLUP model reliability.
Journal of dairy science | 2020-06-01 | PMID 32253036
Ben Zaabza H, Mäntysaari E A, Strandén I
Inbreeding, effective population size, and coancestry in the Latxa dairy sheep breed.
Journal of dairy science | 2020-06-01 | PMID 32253040
Granado-Tajada I, Rodríguez-Ramilo S T, Legarra A and 1 more
Targeting DNA Repair in Ovarian Cancer Treatment Resistance.
Clinical oncology (Royal College of Radiologists (Great Britain)) | 2020-08-01 | PMID 32253106
Wong-Brown M W, van der Westhuizen A, Bowden N A
Implementation of a Gene Panel for Genetic Diagnosis of Primary Ciliary Dyskinesia.
Archivos de bronconeumologia | 2021-03-01 | PMID 32253119
Baz-Redón Noelia, Rovira-Amigo Sandra, Paramonov Ida and 25 more
Congenital myasthenia syndrome in a Chinese family with mutations in MUSK: A hotspot mutation and literature review.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia | 2020-06-01 | PMID 32253145
Liu Yiqi, Qiao Kai, Yan Chong and 6 more
An orally bioavailable broad-spectrum antiviral inhibits SARS-CoV-2 in human airway epithelial cell cultures and multiple coronaviruses in mice.
Science translational medicine | 2020-04-29 | PMID 32253226
Sheahan Timothy P, Sims Amy C, Zhou Shuntai and 25 more
Improvements in Clinical Outcomes for BRAFV600E -Mutant Metastatic Colorectal Cancer.
Clinical cancer research : an official journal of the American Association for Cancer Research | 2020-09-01 | PMID 32253230
Morris Van K, Bekaii-Saab Tanios
Epigallocatechin Gallate Induces Hepatic Stellate Cell Senescence and Attenuates Development of Hepatocellular Carcinoma.
Cancer prevention research (Philadelphia, Pa.) | 2020-06-01 | PMID 32253266
Sojoodi Mozhdeh, Wei Lan, Erstad Derek J and 9 more
Distinct modes of manipulation of rice auxin response factor OsARF17 by different plant RNA viruses for infection.
Proceedings of the National Academy of Sciences of the United States of America | 2020-04-21 | PMID 32253321
Zhang Hehong, Li Lulu, He Yuqing and 14 more
HLA loci predisposing to immune TTP in Japanese: potential role of the shared ADAMTS13 peptide bound to different HLA-DR.
Blood | 2020-06-25 | PMID 32253422
Sakai Kazuya, Kuwana Masataka, Tanaka Hidenori and 25 more
Treatment-Emergent Influenza Virus Polymerase Acidic Substitutions Independent of Those at I38 Associated With Reduced Baloxavir Susceptibility and Virus Rebound in Trials of Baloxavir Marboxil.
The Journal of infectious diseases | 2020-08-17 | PMID 32253432
Ince William L, Smith Fraser B, O'Rear Julian J and 1 more
Association between functional polymorphisms in serotonin transporter gene (SLC6A4) and escitalopram treatment response in depressive patients in a South Indian population.
European journal of clinical pharmacology | 2020-06-01 | PMID 32253447
Mandal Tatiyana, Bairy Laxminarayana Kurady, Sharma Podila Satya Venkata Narasimha
Integrating genomics for chickpea improvement: achievements and opportunities.
TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik | 2020-05-01 | PMID 32253478
Roorkiwal Manish, Bharadwaj Chellapilla, Barmukh Rutwik and 14 more
Mutation in ALOX12B likely cause of POI and also ichthyosis in a large Iranian pedigree.
Molecular genetics and genomics : MGG | 2020-07-01 | PMID 32253496
Alavi Afagh, Darki Faezeh, Bidgoli Mohammad Masoud Rahimi and 5 more
A focus on the association of Apol1 with kidney disease in children.
Pediatric nephrology (Berlin, Germany) | 2021-04-01 | PMID 32253519
Ekulu Pepe M, Nkoy Agathe B, Adebayo Oyindamola C and 8 more
Associations of polymorphisms in LOXL1 and copper chaperone genes with pseudoexfoliation-syndrome-related cataract in a Chinese Uygur population.
International ophthalmology | 2020-07-01 | PMID 32253563
Jing Qinghe, Li Dan, Gao Wei and 3 more
Epidemiology and HBGA-susceptibility investigation of a G9P[8] rotavirus outbreak in a school in Lechang, China.
Archives of virology | 2020-06-01 | PMID 32253617
Guo Lun-Ai, Zhang Meng, Hou Yu-Zhen and 11 more
Bardet-Biedl syndrome in two unrelated patients with identical compound heterozygous SCLT1 mutations.
CEN case reports | 2020-08-01 | PMID 32253632
Morisada Naoya, Hamada Riku, Miura Kenichiro and 4 more
STK11 mutation status is associated with decreased survival in meningiomas.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology | 2020-09-01 | PMID 32253637
Gill Corey M, Loewenstern Joshua, Rutland John W and 10 more
Genetic polymorphisms of high platelet reactivity in Chinese patients with coronary heart disease under clopidogrel therapy.
International journal of clinical pharmacy | 2020-02-01 | PMID 32253660
Zou Xiao, Deng Xin-Li, Wang Yin-Meng and 6 more
Novel variants and uncommon cases among southern Chinese children with X-linked hypophosphatemia.
Journal of endocrinological investigation | 2020-11-01 | PMID 32253725
Lin Y, Xu J, Li X and 15 more
A novel homozygous nonsense mutation (p.Y78*) in TMPRSS6 gene causing iron-refractory iron deficiency anemia (IRIDA) in two siblings.
The Turkish journal of pediatrics | 2020-01-01 | PMID 32253873
Çakmaklı Seda, Kaplan Çiğdem, Uzunoğlu Mehmet and 4 more
A rare cause of epileptic encephalopathy: a beta-propeller protein associated neurodegeneration case with a new mutation and literature review.
The Turkish journal of pediatrics | 2020-01-01 | PMID 32253874
Özgün Nezir, Özer Leyla, Yaramış Ahmet
Novel mutation and severe respiratory failure in congenital disorders of glycosylation Type Ix.
The Turkish journal of pediatrics | 2020-01-01 | PMID 32253875
Kılıç Betül, Akkuş Nejmiye
Dropped head related lamin A/C associated congenital muscular dystrophy case; previously defined as emerydreifuss muscular dystrophy.
The Turkish journal of pediatrics | 2020-01-01 | PMID 32253878
Tekin Hande, Yılmaz Sanem, Tekgül Hasan and 2 more
Association of endothelial nitric oxide synthase gene (G894T) polymorphism and hypertension in diabetic Bataknese patients.
Medicinski glasnik : official publication of the Medical Association of Zenica-Doboj Canton, Bosnia and Herzegovina | 2020-08-01 | PMID 32253901
Siregar Jelita, Akbari Ganie Ratna, Lindarto Dharma and 2 more
Lentiviral Gene Therapy for Familial Hemophagocytic Lymphohistiocytosis Type 3, Caused by UNC13D Genetic Defects.
Human gene therapy | 2020-06-01 | PMID 32253931
Takushi Sarah E, Paik Na Yoon, Fedanov Andrew and 4 more
Linkage disequilibrium and haplotype analysis of Src and Yes1 genes in thyroid cancer.
Future oncology (London, England) | 2020-04-01 | PMID 32253932
Nisar Asif, Mahjabeen Ishrat, Mehmood Azhar and 3 more