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 7178 of 10600

Human-induced pluripotent stem cell-derived cardiomyocytes from cardiac progenitor cells: effects of selective ion channel blockade.
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology | 2016-12-01 | PMID 28011833
Altomare Claudia, Pianezzi Enea, Cervio Elisabetta and 7 more
An inducible ER-Golgi tether facilitates ceramide transport to alleviate lipotoxicity.
The Journal of cell biology | 2017-01-02 | PMID 28011845
Liu Li-Ka, Choudhary Vineet, Toulmay Alexandre and 1 more
Two distinct membrane potential-dependent steps drive mitochondrial matrix protein translocation.
The Journal of cell biology | 2017-01-02 | PMID 28011846
Schendzielorz Alexander Benjamin, Schulz Christian, Lytovchenko Oleksandr and 5 more
Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency.
The Journal of experimental medicine | 2017-01-01 | PMID 28011864
Abolhassani Hassan, Edwards Emily S J, Ikinciogullari Aydan and 30 more
Cytosol-Localized UDP-Xylose Synthases Provide the Major Source of UDP-Xylose for the Biosynthesis of Xylan and Xyloglucan.
Plant & cell physiology | 2017-01-01 | PMID 28011867
Zhong Ruiqin, Teng Quincy, Haghighat Marziyeh and 4 more
Genes: UXS1
Chemical-Induced Inhibition of Blue Light-Mediated Seedling Development Caused by Disruption of Upstream Signal Transduction Involving Cryptochromes in Arabidopsis thaliana.
Plant & cell physiology | 2017-01-01 | PMID 28011868
Ong Wen-Dee, Okubo-Kurihara Emiko, Kurihara Yukio and 10 more
Genes: CRY1
Functional Significance of NADPH-Thioredoxin Reductase C in the Antioxidant Defense System of Cyanobacterium Anabaena sp. PCC 7120.
Plant & cell physiology | 2017-01-01 | PMID 28011872
Mihara Shoko, Yoshida Keisuke, Higo Akiyoshi and 1 more
Exogenous Cellulase Switches Cell Interdigitation to Cell Elongation in an RIC1-dependent Manner in Arabidopsis thaliana Cotyledon Pavement Cells.
Plant & cell physiology | 2017-01-01 | PMID 28011873
Higaki Takumi, Takigawa-Imamura Hisako, Akita Kae and 4 more
Genes: RIC1
Pharmacogenetics and pathophysiology of CACNA1S mutations in malignant hyperthermia.
Physiological genomics | 2017-02-01 | PMID 28011884
Beam Teresa A, Loudermilk Emily F, Kisor David F
Genes: RYR1
Association between polymorphisms of thymidylate synthase gene 5'- and 3'-UTR and gastric cancer risk: meta-analysis.
Bioscience reports | 2016-12-01 | PMID 28011897
Mo Ao, Zhao Yongliang, Shi Yan and 7 more
Efferocytosis is impaired in Gaucher macrophages.
Haematologica | 2017-04-01 | PMID 28011901
Aflaki Elma, Borger Daniel K, Grey Richard J and 4 more
Effectiveness of Human Papillomavirus Vaccination on Prevalence of Vaccine Genotypes in Young Sexually Active Women in France.
The Journal of infectious diseases | 2017-03-01 | PMID 28011911
Heard Isabelle, Tondeur Laura, Arowas Laurence and 3 more
Trends and Determinants of Human Papillomavirus Concordance Among Human Immunodeficiency Virus-Positive and -Negative Heterosexual Couples in Rakai, Uganda.
The Journal of infectious diseases | 2017-03-01 | PMID 28011913
Grabowski Mary K, Gravitt Patti E, Gray Ronald H and 8 more
Genome-Wide Association Mapping of the Antibody Response to Diphtheria, Tetanus and Acellular Pertussis Vaccine in Mice.
The Journal of infectious diseases | 2017-02-01 | PMID 28011915
Mosley Yung-Yi C, Radder Josiah E, Berndt Annerose and 1 more
HPV-6 Molecular Variants Association With the Development of Genital Warts in Men: The HIM Study.
The Journal of infectious diseases | 2017-02-15 | PMID 28011919
Flores-Díaz Ema, Sereday Karen A, Ferreira Silvaneide and 9 more
Genotypic analysis of HCV 1a by sequencing of the NS3 proteasic region in simeprevir therapy candidates.
Le infezioni in medicina | 2016-12-01 | PMID 28011961
Liberti Alfonso, Raddi Adriana, Cuomo Nunzia
Comparison of quinolone and beta-lactam resistance among Escherichia coli strains isolated from urinary tract infections.
Le infezioni in medicina | 2016-12-01 | PMID 28011969
Tayebi Zahra, Heidari Hamid, Kazemian Hossein and 3 more
Genetic Polymorphisms of SP-A, SP-B, and SP-D and Risk of Respiratory Distress Syndrome in Preterm Neonates.
Medical science monitor : international medical journal of experimental and clinical research | 2016-12-24 | PMID 28011976
Chang Hong-Yu, Li Fang, Li Feng-Sheng and 3 more
Putative orotate transporter of Cryptococcus neoformans, Oat1, is a member of the NCS1/PRT transporter super family and its loss causes attenuation of virulence.
Current genetics | 2017-08-01 | PMID 28011993
Toh-E Akio, Ohkusu Misako, Shimizu Kiminori and 5 more
Genes: NCS1
Bivariate genome-wide association analyses identified genetic pleiotropic effects for bone mineral density and alcohol drinking in Caucasians.
Journal of bone and mineral metabolism | 2017-11-01 | PMID 28012008
Lu Shan, Zhao Lan-Juan, Chen Xiang-Ding and 7 more
Genes: GRIK4, OPRM1
Assessment of HCV genotypes in Yunnan Province of Southwest China.
Virus genes | 2017-04-01 | PMID 28012010
Li Qiongfen, Yao Yufeng, Shen Yunsong and 8 more
The ferredoxin-dependent glutamate synthase (OsFd-GOGAT) participates in leaf senescence and the nitrogen remobilization in rice.
Molecular genetics and genomics : MGG | 2017-04-01 | PMID 28012016
Zeng Dong-Dong, Qin Ran, Li Mei and 4 more
Characterization of specific allosteric effects of the Na+ channel β1 subunit on the Nav1.4 isoform.
European biophysics journal : EBJ | 2017-07-01 | PMID 28012039
Sánchez-Solano Alfredo, Islas Angel A, Scior Thomas and 3 more
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
Acta neuropathologica | 2017-04-01 | PMID 28012042
Schartner Vanessa, Romero Norma B, Donkervoort Sandra and 37 more
Genes: RYR1
A survey of yeast from the Yarrowia clade for lipid production in dilute acid pretreated lignocellulosic biomass hydrolysate.
Applied microbiology and biotechnology | 2017-04-01 | PMID 28012044
Quarterman Josh, Slininger Patricia J, Kurtzman Cletus P and 2 more
MHC class II alleles associated with Th1 rather than Th17 type immunity drive the onset of early arthritis in a rat model of rheumatoid arthritis.
European journal of immunology | 2017-03-01 | PMID 28012172
Tuncel Jonatan, Haag Sabrina, Holmdahl Rikard
Clones or clans: the genetic structure of a deep-sea sponge, Aphrocallistes vastus, in unique sponge reefs of British Columbia, Canada.
Molecular ecology | 2017-02-01 | PMID 28012216
Brown Rachel R, Davis Corey S, Leys Sally P
Genes: FST
Drivers of genetic differentiation in a generalist insect-pollinated herb across spatial scales.
Molecular ecology | 2017-03-01 | PMID 28012225
Muñoz-Pajares A J, García C, Abdelaziz M and 3 more
Widespread selective sweeps throughout the genome of model plant pathogenic fungi and identification of effector candidates.
Molecular ecology | 2017-04-01 | PMID 28012227
Badouin H, Gladieux P, Gouzy J and 7 more
The escalatory Red Queen: Population extinction and replacement following arms race dynamics in poplar rust.
Molecular ecology | 2017-04-01 | PMID 28012228
Persoons Antoine, Hayden Katherine J, Fabre Bénédicte and 4 more
Activation of the glmS Ribozyme Confers Bacterial Growth Inhibition.
Chembiochem : a European journal of chemical biology | 2017-03-02 | PMID 28012261
Schüller Anna, Matzner Daniel, Lünse Christina E and 7 more
A mass spectrometry-based multiplex SNP genotyping by utilizing allele-specific ligation and strand displacement amplification.
Biosensors & bioelectronics | 2017-05-15 | PMID 28012317
Park Jung Hun, Jang Hyowon, Jung Yun Kyung and 4 more
Radiogenomic evaluation of lung cancer - Are there imaging characteristics associated with lung adenocarcinomas harboring BRAF mutations?
Clinical imaging | 2000-01-01 | PMID 28012356
Halpenny Darragh F, Plodkowski Andrew, Riely Gregory and 4 more
Genes: BRAF, KRAS
Importance sampling allows Hd true tests of highly discriminating DNA profiles.
Forensic science international. Genetics | 2017-03-01 | PMID 28012376
Taylor Duncan, Curran James M, Buckleton John
Keratin mediated attachment of stem cells to augment cardiomyogenic lineage commitment.
Colloids and surfaces. B, Biointerfaces | 2017-03-01 | PMID 28012406
Ghosh Lopamudra Das, Ravi Venkatraman, Sanpui Pallab and 2 more
Carotid artery plaques and intima medial thickness in familial hypercholesteraemic patients on long-term statin therapy: A case control study.
Atherosclerosis | 2017-01-01 | PMID 28012444
Bos Sven, Duvekot Martijne H C, Ten Kate Gert-Jan R and 7 more
Digenic mutations involving both the BSND and GJB2 genes detected in Bartter syndrome type IV.
International journal of pediatric otorhinolaryngology | 2017-01-01 | PMID 28012523
Wang Hong-Han, Feng Yong, Li Hai-Bo and 5 more
Genes: GJB2, BSND, CLCNKA, CLCNKB
First report of prevalence c.IVS1+1G>A and del (GJB6-13S1854) mutations in Syrian families with non-syndromic sensorineural hearing loss.
International journal of pediatric otorhinolaryngology | 2017-01-01 | PMID 28012540
Al-Achkar Walid, Al-Halabi Bassel, Ali Bashar and 1 more
Genes: GJB6, GJB2
A novel TECTA mutation causes ARNSHL.
International journal of pediatric otorhinolaryngology | 2017-01-01 | PMID 28012541
Asgharzade Samira, Tabatabaiefar Mohammad Amin, Modarressi Mohammad Hossein and 5 more
Genes: TECTA, GJB2
Severe disease in Cystic Fibrosis and fecal calprotectin levels.
Immunobiology | 2017-03-01 | PMID 28012584
Parisi Giuseppe Fabio, Papale Maria, Rotolo Novella and 7 more
Orbital autoimmune inflammatory disorders - Protein regional variability might explain specific lesion location.
Medical hypotheses | 2017-01-01 | PMID 28012595
Clarke Margo S, Plouznikoff Alexandre, Deschenes Jean
Blood oxidative stress (BLOS) is a secondary host defense system responding normally to anaerobic wound infection and inadvertently to dietary ultra-exogenous sulfide formation (USF).
Medical hypotheses | 2017-01-01 | PMID 28012599
Stroot Peter G
Does complement Factor H-Related protein 5 Nephropathy (Troodos Nephropathy) protect from rickettsial infections?
Medical hypotheses | 2017-01-01 | PMID 28012611
Kousios Andreas
Short communication: Identification of variation in the ovine prolactin gene of Chios sheep with a cost-effective sequence-based typing assay.
Journal of dairy science | 2017-02-01 | PMID 28012627
Miltiadou D, Orford M, Symeou S and 1 more
Myocardin: A novel player in atherosclerosis.
Atherosclerosis | 2017-02-01 | PMID 28012646
Xia Xiao-Dan, Zhou Zhen, Yu Xiao-Hua and 2 more
Genes: SRF, MYOCD
CD98 regulates vascular smooth muscle cell proliferation in atherosclerosis.
Atherosclerosis | 2017-01-01 | PMID 28012647
Baumer Yvonne, McCurdy Sara, Alcala Martin and 4 more
Disclosing genetic risk of Alzheimer's disease to cognitively impaired patients and visit companions: Findings from the REVEAL Study.
Patient education and counseling | 2017-05-01 | PMID 28012682
Guan Yue, Roter Debra L, Erby Lori H and 5 more
Genes: APOE
pncA mutations are associated with slower sputum conversion during standard treatment of multidrug-resistant tuberculosis.
International journal of antimicrobial agents | 2017-02-01 | PMID 28012685
Zheng Xubin, Ning Zhu, Drobniewski Francis and 4 more
Genes: DST
Accurate Quantification of T Cells by Measuring Loss of Germline T-Cell Receptor Loci with Generic Single Duplex Droplet Digital PCR Assays.
The Journal of molecular diagnostics : JMD | 2017-03-01 | PMID 28012713
Zoutman Willem H, Nell Rogier J, Versluis Mieke and 7 more
Genes: TRB, TRD
Skin-Resident Effector Memory CD8+CD28- T Cells Exhibit a Profibrotic Phenotype in Patients with Systemic Sclerosis.
The Journal of investigative dermatology | 2017-05-01 | PMID 28012718
Li Gang, Larregina Adriana T, Domsic Robyn T and 4 more
The role of parental microRNA alleles in recurrent pregnancy loss: an association study.
Reproductive biomedicine online | 2017-03-01 | PMID 28012790
Amin-Beidokhti Mona, Mirfakhraie Reza, Zare-Karizi Shohreh and 1 more
Tissue specific regulation of the chick Sox10E1 enhancer by different Sox family members.
Developmental biology | 2017-02-01 | PMID 28012818
Murko Christina, Bronner Marianne E
Behavioral characterization of female zinc transporter 3 (ZnT3) knockout mice.
Behavioural brain research | 2017-03-15 | PMID 28012850
Thackray Sarah E, McAllister Brendan B, Dyck Richard H
Germline and somatic DICER1 mutations in familial and sporadic liver tumors.
Journal of hepatology | 2017-04-01 | PMID 28012864
Caruso Stefano, Calderaro Julien, Letouzé Eric and 9 more
Genes: DICER1, CTNNB1
Therapeutic efficacy of peramivir against H5N1 highly pathogenic avian influenza viruses harboring the neuraminidase H275Y mutation.
Antiviral research | 2017-03-01 | PMID 28012921
Kobayashi Masanori, Kodama Makoto, Noshi Takeshi and 10 more
A "dose" effect of mutations in the GBA gene on Parkinson's disease phenotype.
Parkinsonism & related disorders | 2017-03-01 | PMID 28012950
Thaler Avner, Gurevich Tanya, Bar Shira Anat and 6 more
Frontotemporal dementia as the presenting phenotype of p.A53T mutation carriers in the alpha-synuclein gene.
Parkinsonism & related disorders | 2017-02-01 | PMID 28012952
Bougea Anastasia, Koros Christos, Stamelou Maria and 14 more
Genes: SNCA
New insights in the neurological phenotype of aceruloplasminemia in Caucasian patients.
Parkinsonism & related disorders | 2017-03-01 | PMID 28012953
Vroegindeweij Lena H P, Langendonk Janneke G, Langeveld Mirjam and 5 more
Systematics and biogeography of the Automolus infuscatus complex (Aves; Furnariidae): Cryptic diversity reveals western Amazonia as the origin of a transcontinental radiation.
Molecular phylogenetics and evolution | 2017-02-01 | PMID 28012956
Schultz Eduardo D, Burney Curtis W, Brumfield Robb T and 3 more
High affinity binding of the peptide agonist TIP-39 to the parathyroid hormone 2 (PTH2) receptor requires the hydroxyl group of Tyr-318 on transmembrane helix 5.
Biochemical pharmacology | 2017-03-01 | PMID 28012961
Weaver Richard E, Mobarec Juan C, Wigglesworth Mark J and 2 more
Genes: PTH2, PTH
Effect of polymyxin resistance (pmr) on biofilm formation of Cronobacter sakazakii.
Microbial pathogenesis | 2017-05-01 | PMID 28012985
Bao Xuerui, Jia Xiangyin, Chen Lequn and 8 more
Increased secretion of exopolysaccharide and virulence potential of a mucoid variant of Salmonella enterica serovar Montevideo under environmental stress.
Microbial pathogenesis | 2017-02-01 | PMID 28012986
Jean-Gilles Beaubrun J, Tall Ben D, Flamer M-L and 8 more
Genes: SPI1
Infectious hematopoietic necrosis virus (IHNV) outbreak in farmed rainbow trout in Iran: Viral isolation, pathological findings, molecular confirmation, and genetic analysis.
Virus research | 2017-02-02 | PMID 28012997
Ahmadivand Sohrab, Soltani Mehdi, Mardani Karim and 5 more
Genes: CPE
Viral small RNAs reveal the genomic variations of three grapevine vein clearing virus quasispecies populations.
Virus research | 2017-02-02 | PMID 28012998
Howard Susanne, Qiu Wenping
Independent metal-thiolate cluster formation in C-terminal Cys-rich region of a rice type 1 metallothionein isoform.
International journal of biological macromolecules | 2017-03-01 | PMID 28013008
Malekzadeh Rahim, Shahpiri Azar
Improving special hydrolysis characterization into Talaromyces thermophilus F1208 xylanase by engineering of N-terminal extension and site-directed mutagenesis in C-terminal.
International journal of biological macromolecules | 2017-03-01 | PMID 28013010
Li Qin, Sun Baoguo, Xiong Ke and 4 more
Parkinsonism-associated protein DJ-1 is a bona fide deglycase.
Biochemical and biophysical research communications | 2017-01-29 | PMID 28013050
Richarme Gilbert, Dairou Julien
CPX-351 exhibits potent and direct ex vivo cytotoxicity against AML blasts with enhanced efficacy for cells harboring the FLT3-ITD mutation.
Leukemia research | 2017-02-01 | PMID 28013106
Gordon Max J, Tardi Paul, Loriaux Marc M and 5 more
Genes: FLT3
Enhanced hydrogen production of Enterobacter aerogenes mutated by nuclear irradiation.
Bioresource technology | 2017-03-01 | PMID 28013136
Cheng Jun, Liu Min, Song Wenlu and 4 more
Dwarf and short grain 1, encoding a putative U-box protein regulates cell division and elongation in rice.
Journal of plant physiology | 2017-02-01 | PMID 28013174
Wang Nan, Xing Yadi, Lou Qijin and 9 more
Genes: DSG1
Biochemical characterization of the flagellar stator-associated inner membrane protein FliL from Vibrio alginolyticus.
Journal of biochemistry | 2017-04-01 | PMID 28013221
Kumar Ananthanarayanan, Isumi Miyu, Sakuma Mayuko and 7 more
RNA G-quadruplexes: emerging mechanisms in disease.
Nucleic acids research | 2017-02-28 | PMID 28013268
Cammas Anne, Millevoi Stefania
Genes: RAN
Changes in Cell Wall Polymers and Degradability in Maize Mutants Lacking 3'- and 5'-O-Methyltransferases Involved in Lignin Biosynthesis.
Plant & cell physiology | 2017-02-01 | PMID 28013276
Fornalé Silvia, Rencoret Jorge, García-Calvo Laura and 5 more
Genes: COMT
Delayed and decreased LV untwist and unstrain rate in mutation carriers for hypertrophic cardiomyopathy.
European heart journal. Cardiovascular Imaging | 2017-04-01 | PMID 28013283
Kauer Floris, van Dalen Bas M, Michels Michelle and 5 more
Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability.
Human molecular genetics | 2017-01-15 | PMID 28013290
Breuss Martin W, Nguyen Thai, Srivatsan Anjana and 14 more
SLC44A4 mutation causes autosomal dominant hereditary postlingual non-syndromic mid-frequency hearing loss.
Human molecular genetics | 2017-01-15 | PMID 28013291
Ma Zhaoxin, Xia Wenjun, Liu Fei and 7 more
MIB2 variants altering NOTCH signalling result in left ventricle hypertrabeculation/non-compaction and are associated with Ménétrier-like gastropathy.
Human molecular genetics | 2017-01-01 | PMID 28013292
Piccolo Pasquale, Attanasio Sergio, Secco Ilaria and 21 more
Genes: MIB2, EGFR, HES1, MIB1, NOTCH3
Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms.
Human molecular genetics | 2017-01-01 | PMID 28013294
Kondo Hidehito, Maksimova Nadezda, Otomo Takanobu and 15 more
Notch4 Signaling Pathway of Endothelial Progenitor Cells in a Kawasaki Disease Model Induced by Lactobacillus casei Cell Wall Extract.
Journal of vascular research | 2016-01-01 | PMID 28013300
Wang Huafeng, Xia Yuanyuan, Fu Songling and 4 more
The Impact of Peroxisome Proliferator-Activated Receptor Gamma and Its Interaction with Abdominal Obesity on Diabetic Nephropathy in Chinese Han.
Nephron | 2017-01-01 | PMID 28013303
Zhang Meihong, Yuan Hongying, Li Changsheng and 1 more
Genes: PPARG
The tandem repeated organization of NB-LRR genes in the clubroot-resistant CRb locus in Brassica rapa L.
Molecular genetics and genomics : MGG | 2017-04-01 | PMID 28013378
Hatakeyama Katsunori, Niwa Tomohisa, Kato Takeyuki and 3 more
Functional assessment of a novel COL4A5 splice region variant and immunostaining of plucked hair follicles as an alternative method of diagnosis in X-linked Alport syndrome.
Pediatric nephrology (Berlin, Germany) | 2017-06-01 | PMID 28013382
Malone Andrew F, Funk Steven D, Alhamad Tarek and 1 more
Protocols for Studying the Interaction of MSI-78 with the Membranes of Whole Gram-Positive and Gram-Negative Bacteria by NMR.
Methods in molecular biology (Clifton, N.J.) | 2017-01-01 | PMID 28013507
Santisteban Nury P, Morrow Michael R, Booth Valerie
Polymorphisms and expression of toll-like receptors in autoimmune thyroid diseases.
Autoimmunity | 2017-05-01 | PMID 28013570
Inoue Naoya, Katsumata Yuka, Watanabe Mikio and 6 more
Genes: TLR7, TLR9
Association of glutathione S-transferase omega polymorphism and spinocerebellar ataxia type 2.
Journal of the neurological sciences | 2017-01-15 | PMID 28017238
Almaguer-Mederos Luis E, Almaguer-Gotay Dennis, Aguilera-Rodríguez Raúl and 8 more
Genes: GSTO2, GSTO1, ATXN2
Slowly progressive d-bifunctional protein deficiency with survival to adulthood diagnosed by whole-exome sequencing.
Journal of the neurological sciences | 2017-01-15 | PMID 28017249
Matsukawa Takashi, Koshi Kagari Mano, Mitsui Jun and 11 more
Genes: DBP
Autosomal Recessive Cerebellar Ataxia type 1 mimicking multiple sclerosis: A report of two siblings with a novel mutation in SYNE1 gene in a Saudi family.
Journal of the neurological sciences | 2017-01-15 | PMID 28017257
Algahtani Hussein, Marzouk Yousef, Algahtani Raghad and 2 more
The pattern recognition receptor, Mincle, is essential for maintaining the M1 macrophage phenotype in acute renal inflammation.
Kidney international | 2017-03-01 | PMID 28017324
Lv Lin L, Tang Patrick Ming-Kuen, Li Chun J and 7 more
Genes: TLR4
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.
American journal of human genetics | 2017-01-05 | PMID 28017370
Sleven Hannah, Welsh Seth J, Yu Jing and 18 more
Genes: EBF3
Mixed Model Association with Family-Biased Case-Control Ascertainment.
American journal of human genetics | 2017-01-05 | PMID 28017371
Hayeck Tristan J, Loh Po-Ru, Pollack Samuela and 4 more
Genes: PML
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
American journal of human genetics | 2017-01-05 | PMID 28017372
Chao Hsiao-Tuan, Davids Mariska, Burke Elizabeth and 18 more
Genes: EBF3, ARX
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.
American journal of human genetics | 2017-01-05 | PMID 28017373
Harms Frederike Leonie, Girisha Katta M, Hardigan Andrew A and 30 more
Genes: EBF3, CDKN1A
Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy.
American journal of human genetics | 2017-01-05 | PMID 28017374
Miyatake Satoko, Mitsuhashi Satomi, Hayashi Yukiko K and 20 more
Genes: MYPN, ACTA1
Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.
American journal of human genetics | 2017-01-05 | PMID 28017375
van Rooij Frank J A, Qayyum Rehan, Smith Albert V and 97 more
Genes: RBPMS
The Ecology and Evolution of Stoichiometric Phenotypes.
Trends in ecology & evolution | 2017-02-01 | PMID 28017452
Leal Miguel C, Seehausen Ole, Matthews Blake
ATXN2 trinucleotide repeat length correlates with risk of ALS.
Neurobiology of aging | 2017-03-01 | PMID 28017481
Sproviero William, Shatunov Aleksey, Stahl Daniel and 44 more
Genes: ATXN2
Human leukocyte antigen and idiosyncratic adverse drug reactions.
Drug metabolism and pharmacokinetics | 2017-02-01 | PMID 28017537
Usui Toru, Naisbitt Dean J
Staphylococcus aureus from the German general population is highly diverse.
International journal of medical microbiology : IJMM | 2017-01-01 | PMID 28017539
Becker Karsten, Schaumburg Frieder, Fegeler Christian and 2 more
Trends and predictors of HIV-1 acquired drug resistance in Minas Gerais, Brazil: 2002-2012.
The Brazilian journal of infectious diseases : an official publication of the Brazilian Society of Infectious Diseases | 2000-01-01 | PMID 28017554
Duani Helena, Aleixo Agdemir Waleria, Tupinambás Unaí
Genes: GSS
Epileptic phenotypes, electroclinical features and clinical characteristics in 17 children with anti-NMDAR encephalitis.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society | 2017-05-01 | PMID 28017557
Haberlandt E, Ensslen M, Gruber-Sedlmayr U and 11 more