The multiple affinities of α-dystroglycan.
Current protein & peptide science | 2013-11-01 | PMID 24206164
Sciandra Francesca, Bozzi Manuela, Bigotti Maria Giulia 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 5781 of 10600
A novel protein, Pho92, has a conserved YTH domain and regulates phosphate metabolism by decreasing the mRNA stability of PHO4 in Saccharomyces cerevisiae.
The Biochemical journal | 2014-02-01 | PMID 24206186
Kang Hyun-Jun, Jeong Sook-Jin, Kim Kyung-Nam and 5 more
Genes: UPF1, YTHDF2
Desmoid-type fibromatosis of the head and neck region in the paediatric population: a clinicopathological and genetic study of seven cases.
Histopathology | 2014-05-01 | PMID 24206198
Flucke Uta, Tops Bastiaan B J, van Diest Paul J and 1 more
Genes: CTNNB1
Stoichiometry of δ subunit containing GABA(A) receptors.
British journal of pharmacology | 2014-02-01 | PMID 24206220
Patel B, Mortensen M, Smart T G
Protein-protein interaction networks studies and importance of 3D structure knowledge.
Expert review of proteomics | 2013-12-01 | PMID 24206225
Lu Hui-Chun, Fornili Arianna, Fraternali Franca
The novel HLA-C*03:02:02:03 identified by cloning and genomic full-length sequencing.
Tissue antigens | 2014-01-01 | PMID 24206340
Ko S-Y, Oh H-B, Jun J H and 1 more
Extended-spectrum β-lactamase producing Escherichia coli in hospital wastewaters and sewage treatment plants in Queensland, Australia.
Canadian journal of microbiology | 2013-11-01 | PMID 24206356
Gündoğdu Aycan, Jennison Amy V, Smith Helen V and 2 more
Trichophyton tonsurans strains from Brazil: phenotypic heterogeneity, genetic homology, and detection of virulence genes.
Canadian journal of microbiology | 2013-11-01 | PMID 24206358
Sidrim José Julio Costa, Rocha Marcos Fábio Gadelha, Leite João Jaime Giffoni and 6 more
An efficient reverse genetics platform in the model legume Medicago truncatula.
The New phytologist | 2014-02-01 | PMID 24206427
Cheng Xiaofei, Wang Mingyi, Lee Hee-Kyung and 5 more
Prevalence, PFGE typing, and antibiotic resistance of Bacillus cereus group isolated from food in Morocco.
Foodborne pathogens and disease | 2014-02-01 | PMID 24206436
Merzougui Souad, Lkhider Mustapha, Grosset Noel and 2 more
Sensitivity of the distribution of mutational fitness effects to environment, genetic background, and adaptedness: a case study with Drosophila.
Evolution; international journal of organic evolution | 2014-03-01 | PMID 24206451
Wang Alethea D, Sharp Nathaniel P, Agrawal Aneil F
APOL1 risk variants, race, and progression of chronic kidney disease.
The New England journal of medicine | 2013-12-05 | PMID 24206458
Parsa Afshin, Kao W H Linda, Xie Dawei and 22 more
Genes: APOL1
The physiological importance of developmental mechanisms that enforce proper stomatal spacing in Arabidopsis thaliana.
The New phytologist | 2014-03-01 | PMID 24206523
Dow Graham J, Berry Joseph A, Bergmann Dominique C
Genotype-specific risk stratification and management of patients with long QT syndrome.
Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc | 2013-11-01 | PMID 24206565
Barsheshet Alon, Dotsenko Olena, Goldenberg Ilan
Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing.
Journal of translational medicine | 2013-11-09 | PMID 24206587
Gao Xue, Zhu Qing-yan, Song Yue-Shuai and 9 more
Evaluation of parasite subpopulations and genetic diversity of the msp1, msp2 and glurp genes during and following artesunate monotherapy treatment of Plasmodium falciparum malaria in Western Cambodia.
Malaria journal | 2013-11-09 | PMID 24206588
Gosi Panita, Lanteri Charlotte A, Tyner Stuart D and 14 more
Mild expression of mitral valve prolapse in the Framingham offspring: expanding the phenotypic spectrum.
Journal of the American Society of Echocardiography : official publication of the American Society of Echocardiography | 2014-01-01 | PMID 24206636
Delling Francesca N, Gona Philimon, Larson Martin G and 5 more
Genes: MVP
Association of a polymorphism in PON-1 gene with steroid-induced osteonecrosis of femoral head in Chinese Han population.
Diagnostic pathology | 2013-11-08 | PMID 24206655
Wang Zhiyao, Zhang Yanqiong, Kong Xiangying and 7 more
Hi-Plex for high-throughput mutation screening: application to the breast cancer susceptibility gene PALB2.
BMC medical genomics | 2013-11-08 | PMID 24206657
Nguyen-Dumont Tú, Teo Zhi L, Pope Bernard J and 10 more
Genes: PALB2
The DEAD box protein Mrh4 functions in the assembly of the mitochondrial large ribosomal subunit.
Cell metabolism | 2013-11-05 | PMID 24206665
De Silva Dasmanthie, Fontanesi Flavia, Barrientos Antoni
Brown-Vialetto-van Laere syndrome: a riboflavin responsive neuronopathy of infancy with singular features.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society | 2014-03-01 | PMID 24206674
Spagnoli Carlotta, Pitt Matthew C, Rahman Shamima and 1 more
¹H NMR spectroscopy reveals the effect of genotype and growth conditions on composition of sea buckthorn (Hippophaë rhamnoides L.) berries.
Food chemistry | 2014-03-15 | PMID 24206697
Kortesniemi Maaria, Sinkkonen Jari, Yang Baoru and 1 more
ChIP-seq in steatohepatitis and normal liver tissue identifies candidate disease mechanisms related to progression to cancer.
BMC medical genomics | 2013-11-08 | PMID 24206787
Bysani Madhusudhan, Wallerman Ola, Bornelöv Susanne and 3 more
Centromeric cohesion is protected twice at meiosis, by SHUGOSHINs at anaphase I and by PATRONUS at interkinesis.
Current biology : CB | 2013-11-04 | PMID 24206843
Cromer Laurence, Jolivet Sylvie, Horlow Christine and 6 more
Genes: APC, CDC20
Novel mutations of KCNQ1 in Long QT syndrome.
Indian heart journal | 2000-01-01 | PMID 24206879
Qureshi Sameera F, Ali Altaf, Ananthapur Venkateshwari and 4 more
Genes: KCNQ1
Seizure semiology in autosomal dominant epilepsy with auditory features, due to novel LGI1 mutations.
Epilepsy research | 2013-12-01 | PMID 24206907
Sadleir Lynette G, Agher Dahbia, Chabrol Elodie and 8 more
Genes: LGI1
Genetic and cellular modifiers of oxidative stress: what can we learn from fatty acid oxidation defects?
Molecular genetics and metabolism | 2013-01-01 | PMID 24206932
Olsen Rikke Katrine Jentoft, Cornelius Nanna, Gregersen Niels
Early (2008-2010) hospital outbreak of Klebsiella pneumoniae producing OXA-48 carbapenemase in the UK.
International journal of antimicrobial agents | 2013-12-01 | PMID 24207018
Thomas Claire P, Moore Luke S P, Elamin Nazik and 12 more
Transmissibility of livestock-associated methicillin-resistant Staphylococcus aureus.
Emerging infectious diseases | 2013-11-01 | PMID 24207050
Hetem David J, Bootsma Martin C J, Troelstra Annet and 1 more
The roles of FMRP-regulated genes in autism spectrum disorder: single- and multiple-hit genetic etiologies.
American journal of human genetics | 2013-11-07 | PMID 24207117
Steinberg Julia, Webber Caleb
Detecting identity by descent and estimating genotype error rates in sequence data.
American journal of human genetics | 2013-11-07 | PMID 24207118
Browning Brian L, Browning Sharon R
Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis.
American journal of human genetics | 2013-11-07 | PMID 24207119
Kubo Akiharu, Shiohama Aiko, Sasaki Takashi and 24 more
Genes: SERPINB7
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.
American journal of human genetics | 2013-11-07 | PMID 24207121
Suls Arvid, Jaehn Johanna A, Kecskés Angela and 40 more
Genes: CHD2
Fast method for the simultaneous quantification of toxic polyphenols applied to the selection of genotypes of yam bean (Pachyrhizus sp.) seeds.
Talanta | 2013-12-15 | PMID 24209316
Lautié E, Rozet E, Hubert P and 5 more
Pantothenate kinase-associated neurodegeneration (PKAN) and PLA2G6-associated neurodegeneration (PLAN): review of two major neurodegeneration with brain iron accumulation (NBIA) phenotypes.
International review of neurobiology | 2013-01-01 | PMID 24209433
Kurian Manju A, Hayflick Susan J
Genes: PANK2
Mitochondrial membrane protein-associated neurodegeneration (MPAN).
International review of neurobiology | 2013-01-01 | PMID 24209434
Hartig Monika, Prokisch Holger, Meitinger Thomas and 1 more
Neuroferritinopathy.
International review of neurobiology | 2013-01-01 | PMID 24209436
Keogh Michael J, Morris Christopher M, Chinnery Patrick F
Aceruloplasminemia: an update.
International review of neurobiology | 2013-01-01 | PMID 24209437
Kono Satoshi
Interleukin 4 (IL-4) gene promoter polymorphisms in Rhombomys opimus, the main reservoir of zoonotic cutaneous leishmaniasis.
Cytokine | 2014-01-01 | PMID 24209596
Bakhshi H, Borhani N, Mohebali M and 8 more
Association of apolipoprotein A1 -75 G/A polymorphism with susceptibility to the development of acute lung injury after cardiopulmonary bypass surgery.
Lipids in health and disease | 2013-11-11 | PMID 24209603
Tu Jie, Zhang Bingdong, Chen Yanhua and 4 more
Genes: APOA1
Low-dose irradiation programs macrophage differentiation to an iNOS⁺/M1 phenotype that orchestrates effective T cell immunotherapy.
Cancer cell | 2013-11-11 | PMID 24209604
Klug Felix, Prakash Hridayesh, Huber Peter E and 15 more
Genetic susceptibility to infectious disease in East African Shorthorn Zebu: a genome-wide analysis of the effect of heterozygosity and exotic introgression.
BMC evolutionary biology | 2013-11-09 | PMID 24209611
Murray Gemma G R, Woolhouse Mark E J, Tapio Miika and 11 more
Feedback control of gene expression variability in the Caenorhabditis elegans Wnt pathway.
Cell | 2013-11-07 | PMID 24209624
Ji Ni, Middelkoop Teije C, Mentink Remco A and 5 more
Injury-induced HDAC5 nuclear export is essential for axon regeneration.
Cell | 2013-11-07 | PMID 24209626
Cho Yongcheol, Sloutsky Roman, Naegle Kristen M and 1 more
Genes: HDAC5
Over-expression of BvMTSH, a fusion gene for maltooligosyltrehalose synthase and maltooligosyltrehalose trehalohydrolase, enhances drought tolerance in transgenic rice.
BMB reports | 2014-01-01 | PMID 24209631
Joo Joungsu, Choi Hae Jong, Lee Youn Hab and 6 more
HIV-1 Nef responsiveness is determined by Env variable regions involved in trimer association and correlates with neutralization sensitivity.
Cell reports | 2013-11-14 | PMID 24209751
Usami Yoshiko, Göttlinger Heinrich
Altered features and increased chemosensitivity of human breast cancer cells mediated by adipose tissue-derived mesenchymal stromal cells.
BMC cancer | 2013-11-09 | PMID 24209831
Kucerova Lucia, Skolekova Svetlana, Matuskova Miroslava and 2 more
Genes: MSC, CXCR4
Gloeobacter rhodopsin, limitation of proton pumping at high electrochemical load.
Biophysical journal | 2013-11-05 | PMID 24209850
Vogt Arend, Wietek Jonas, Hegemann Peter
Slow and bimolecular folding of a de novo designed monomeric protein DS119.
Biophysical journal | 2013-11-05 | PMID 24209859
Zhu Cheng, Dai Ziwei, Liang Huanhuan and 3 more
Human bocavirus in children with acute gastroenteritis, Chile, 1985-2010.
Emerging infectious diseases | 2013-11-01 | PMID 24209884
Levican Jorge, Navas Esteban, Orizola Joaquín and 2 more
Pathway-based analysis of genomic variation data.
Current opinion in genetics & development | 2013-12-01 | PMID 24209906
Atias Nir, Istrail Sorin, Sharan Roded
Just an additional hydrogen bond can dramatically reduce the catalytic activity of Bacillus subtilis lipase A I12T mutant: an integration of computational modeling and experimental analysis.
Computers in biology and medicine | 2013-11-01 | PMID 24209933
Ni Zhong, Jin Rongzhong, Chen Huayou and 1 more
Coordination of MYH DNA glycosylase and APE1 endonuclease activities via physical interactions.
DNA repair | 2013-12-01 | PMID 24209961
Luncsford Paz J, Manvilla Brittney A, Patterson Dimeka N and 11 more
Are genetic variations in OXTR, AVPR1A, and CD38 genes important to social integration? Results from two large U.S. cohorts.
Psychoneuroendocrinology | 2014-01-01 | PMID 24209975
Chang Shun-Chiao, Glymour M Maria, Rewak Marissa and 7 more
Genes: OXTR
Sofosbuvir and ledipasvir fixed-dose combination with and without ribavirin in treatment-naive and previously treated patients with genotype 1 hepatitis C virus infection (LONESTAR): an open-label, randomised, phase 2 trial.
Lancet (London, England) | 2014-02-08 | PMID 24209977
Lawitz Eric, Poordad Fred F, Pang Phillip S and 6 more
Racial disparities in Human Papillomavirus (HPV) associated head and neck cancer.
American journal of otolaryngology | 2000-01-01 | PMID 24209992
Jiron Jose, Sethi Seema, Ali-Fehmi Rouba and 5 more
Effect of CYP3A5 genotypes on the pharmacokinetics of carbamazepine when used as monotherapy or co-administered with phenytoin, phenobarbital or valproic acid in Thai patients.
Journal of pharmacy & pharmaceutical sciences : a publication of the Canadian Society for Pharmaceutical Sciences, Societe canadienne des sciences pharmaceutiques | 2013-01-01 | PMID 24210059
Panomvana Duangchit, Traiyawong Tharathorn, Towanabut Somchai
Preoperative chemoradiation therapy with capecitabine/oxaliplatin and cetuximab in rectal cancer: long-term results of a prospective phase 1/2 study.
International journal of radiation oncology, biology, physics | 2013-12-01 | PMID 24210078
Fokas Emmanouil, Conradi Lena, Weiss Christian and 13 more
Genes: KRAS
Metadata-driven comparative analysis tool for sequences (meta-CATS): an automated process for identifying significant sequence variations that correlate with virus attributes.
Virology | 2013-12-01 | PMID 24210098
Pickett B E, Liu M, Sadat E L and 13 more
Dynamic changes in viral population structure and compartmentalization during chronic hepatitis C virus infection in children.
Virology | 2013-12-01 | PMID 24210114
Gismondi María Inés, Díaz Carrasco Juan María, Valva Pamela and 4 more
Coding potential of UL/b' from the initial source of rhesus cytomegalovirus Strain 68-1.
Virology | 2013-12-01 | PMID 24210116
Gill Rachel B, Jason Bowman J, Krogmann Tammy and 3 more
Diversity of human papillomaviruses in skin lesions.
Virology | 2013-12-01 | PMID 24210127
Ekström Johanna, Mühr Laila Sara Arroyo, Bzhalava Davit and 7 more
Beyond GWASs: illuminating the dark road from association to function.
American journal of human genetics | 2013-11-07 | PMID 24210251
Edwards Stacey L, Beesley Jonathan, French Juliet D and 1 more
Accurate local-ancestry inference in exome-sequenced admixed individuals via off-target sequence reads.
American journal of human genetics | 2013-11-07 | PMID 24210252
Hu Youna, Willer Cristen, Zhan Xiaowei and 2 more
Overexpression of survival motor neuron improves neuromuscular function and motor neuron survival in mutant SOD1 mice.
Neurobiology of aging | 2014-04-01 | PMID 24210254
Turner Bradley J, Alfazema Neza, Sheean Rebecca K and 4 more
Genes: SOD1
[Pathophysiology of Behçet's disease].
La Revue de medecine interne | 2014-02-01 | PMID 24210264
Houman M H, Bel Feki N
DNA methylation profiles in type 1 diabetes twins point to strong epigenetic effects on etiology.
Journal of autoimmunity | 2014-05-01 | PMID 24210274
Stefan Mihaela, Zhang Weijia, Concepcion Erlinda and 2 more
Genes: INS
Corneal enlargement without optic disk cupping in children with recessive CYP1B1 mutations.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus | 2013-12-01 | PMID 24210336
Khan Arif O, Aldahmesh Mohammed A, Mohamed Jawahir Y and 1 more
Analysis of milking characteristics in New Zealand dairy cows.
Journal of dairy science | 2014-01-01 | PMID 24210490
Edwards J P, Jago J G, Lopez-Villalobos N
On the limited increase in validation reliability using high-density genotypes in genomic best linear unbiased prediction: observations from Fleckvieh cattle.
Journal of dairy science | 2014-01-01 | PMID 24210491
Ertl J, Edel C, Emmerling R and 3 more
The effects of heat stress in Italian Holstein dairy cattle.
Journal of dairy science | 2014-01-01 | PMID 24210494
Bernabucci U, Biffani S, Buggiotti L and 3 more
Aging children of long-lived parents experience slower cognitive decline.
Alzheimer's & dementia : the journal of the Alzheimer's Association | 2014-10-01 | PMID 24210527
Dutta Ambarish, Henley William, Robine Jean-Marie and 4 more
Human papillomavirus genotype distribution in cervical intraepithelial neoplasia grades 1 or worse among 4215 Chinese women in a population-based study.
Cancer epidemiology | 2013-12-01 | PMID 24210584
Zhang Rong, Velicer Christine, Chen Wen and 9 more
Adult-onset eculizumab-resistant hemolytic uremic syndrome associated with cobalamin C deficiency.
American journal of kidney diseases : the official journal of the National Kidney Foundation | 2014-01-01 | PMID 24210589
Cornec-Le Gall Emilie, Delmas Yahsou, De Parscau Loïc and 5 more
Genes: ADAMTS13, MMACHC
Mutation, condition, and the maintenance of extended lifespan in Drosophila.
Current biology : CB | 2013-11-18 | PMID 24210612
Kimber Christopher M, Chippindale Adam K
Lipid sensing in the brain and regulation of energy balance.
Diabetes & metabolism | 2014-02-01 | PMID 24210646
Moullé V-S, Picard A, Le Foll C and 2 more
Rbx2 regulates neuronal migration through different cullin 5-RING ligase adaptors.
Developmental cell | 2013-11-25 | PMID 24210661
Simó Sergi, Cooper Jonathan A
Genes: SOCS7
The absence of Ku but not defects in classical non-homologous end-joining is required to trigger PARP1-dependent end-joining.
DNA repair | 2013-12-01 | PMID 24210699
Mansour Wael Y, Borgmann K, Petersen C and 2 more
Genes: PARP1
[Re-emergence of measles in the province of Guadalajara, Spain. Is it time to establish new strategies for its elimination?].
Enfermedades infecciosas y microbiologia clinica | 2014-10-01 | PMID 24210738
Martínez-Ramírez Mariela, González-Praetorius Alejandro, Ory-Manchón Fernando de and 4 more
Genes: CRP
Reversible overexpression of bace1-cleaved neuregulin-1 N-terminal fragment induces schizophrenia-like phenotypes in mice.
Biological psychiatry | 2014-07-15 | PMID 24210810
Luo Xiaoyang, He Wanxia, Hu Xiangyou and 1 more
Genotypes and antibiotic resistance of canine Campylobacter jejuni isolates.
Veterinary microbiology | 2014-01-10 | PMID 24210812
Amar Chantal, Kittl Sonja, Spreng David and 4 more
Genotype-oropharyngeal phenotype correlation in Mexican patients with dystrophic epidermolysis bullosa.
International journal of oral and maxillofacial surgery | 2014-04-01 | PMID 24210835
Fortuna G, Pollio A, Aria M and 3 more
Mechanoregulation of valvular interstitial cell phenotype in the third dimension.
Biomaterials | 2014-01-01 | PMID 24210873
Kural Mehmet H, Billiar Kristen L
Genes: EGF
Sinonasal manifestations of cystic fibrosis: a correlation between genotype and phenotype?
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society | 2014-07-01 | PMID 24210900
Berkhout M C, van Rooden C J, Rijntjes E and 3 more
Genes: CFTR
Effects in cattle of genetic variation within the IGF1R gene on the superovulation performance and pregnancy rates after embryo transfer.
Animal reproduction science | 2013-12-01 | PMID 24210909
Yang Wu-Cai, Yang Li-Guo, Riaz Hasan and 3 more
Genes: IGF1, IGF2
Diagnostic performance of selected commercial HEV IgM and IgG ELISAs for immunocompromised and immunocompetent patients.
Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology | 2013-12-01 | PMID 24210958
Pas Suzan D, Streefkerk Roel H R A, Pronk Mark and 4 more
[Aquagenic palmoplantar keratoderma in children with cystic fibrosis].
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie | 2013-12-01 | PMID 24210985
Weil B, Chaillou E, Troussier F and 6 more
Genes: CFTR
Induction and stability of the anergic phenotype in T cells.
Seminars in immunology | 2013-11-15 | PMID 24211041
Valdor Rut, Macian Fernando
CYP2D6 phenotypes and Parkinson's disease risk: a meta-analysis.
Journal of the neurological sciences | 2014-01-15 | PMID 24211060
Lu Yu, Peng Qiliu, Zeng Zhiyu and 7 more
Asthma exacerbation in children: a practical review.
Pediatrics and neonatology | 2014-04-01 | PMID 24211086
Fu Lin-Shien, Tsai Ming-Chin
Panton-Valentine leukocidin (PVL) gene carriage among Staphylococcus aureus strains with SCCmec types I, III, IV, and V recovered from cystic fibrosis pediatric patients in Brazil.
Diagnostic microbiology and infectious disease | 2014-01-01 | PMID 24211217
Lima Danielle Ferreira, Brazão Nathalia Brito Veloso, Folescu Tania Wrobel and 5 more
Transitory dasatinib-resistant states in KIT(mut) t(8;21) acute myeloid leukemia cells correlate with altered KIT expression.
Experimental hematology | 2014-02-01 | PMID 24211243
Herrmann Markus D, Lennerz Jochen K, Bullinger Lars and 5 more
Genes: KIT, STAT3
Kernel methods for phenotyping complex plant architecture.
Journal of theoretical biology | 2014-02-07 | PMID 24211258
Kawamura Koji, Hibrand-Saint Oyant Laurence, Foucher Fabrice and 2 more
Genome-wide consequences of deleting any single gene.
Molecular cell | 2013-11-21 | PMID 24211263
Teng Xinchen, Dayhoff-Brannigan Margaret, Cheng Wen-Chih and 8 more
The agr function and polymorphism: impact on Staphylococcus aureus susceptibility to photoinactivation.
Journal of photochemistry and photobiology. B, Biology | 2013-12-05 | PMID 24211295
Grinholc Mariusz, Nakonieczna Joanna, Negri Alessandro and 7 more
Metabolic phenotyping and systems biology approaches to understanding metabolic syndrome and fatty liver disease.
Gastroenterology | 2014-01-01 | PMID 24211299
Dumas Marc-Emmanuel, Kinross James, Nicholson Jeremy K
Testosterone influences song behaviour and social dominance - but independent of prenatal yolk testosterone exposure.
General and comparative endocrinology | 2014-01-01 | PMID 24211320
Vergauwen Jonas, Groothuis Ton G G, Eens Marcel and 1 more
Homozygosity mapping identifies a GALK1 mutation as the cause of autosomal recessive congenital cataracts in 4 adult siblings.
Gene | 2014-01-25 | PMID 24211322
Chacon-Camacho Oscar F, Buentello-Volante Beatriz, Velázquez-Montoya Roberto and 2 more
Genes: GALK1
High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands.
Gene | 2014-01-25 | PMID 24211323
Karaca Mehmet, Hismi Burcu, Ozgul Riza Koksal and 6 more
Genes: CBS, MTHFR, SERPINE1
Impact of single nucleotide polymorphisms in the essential HCV entry factor CD81 on HCV infectivity and neutralization.
Antiviral research | 2014-01-01 | PMID 24211330
Deest Maximilian, Westhaus Sandra, Steinmann Eike and 3 more