A novel deletion of SNURF/SNRPN exon 1 in a patient with Prader-Willi-like phenotype Fulltext Access 5 Pages 2017
LRP5-linked osteoporosis-pseudoglioma syndrome mimicking isolated microphthalmia Fulltext Access 5 Pages 2017
Novel FREM1 mutations in a patient with MOTA syndrome: Clinical findings, mutation update and review of FREM1-related disorders literature Fulltext Access 5 Pages 2017
The M694I/M694I genotype: A genetic risk factor of AA-amyloidosis in a group of Algerian patients with familial Mediterranean fever Fulltext Access 5 Pages 2017
Novel FSHβ mutation in a male patient with isolated FSH deficiency and infertility Fulltext Access 5 Pages 2017
Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation Fulltext Access 5 Pages 2017
Elucidating the behavioral phenotype of patients affected with mucolipidosis IV: What can we learn from the parents? Fulltext Access 5 Pages 2017
Caution in interpretation of disease causality for heterozygous loss-of-function variants in the MYH8 gene associated with autosomal dominant disorder Fulltext Access 5 Pages 2017
Association of autoimmune thyroiditis and celiac disease with Juvenile Polyposis due to 10q23.1q23.31 deletion: Potential role of PI3K/Akt pathway dysregulation Fulltext Access 5 Pages 2017
Novel homozygous FANCL mutation and somatic heterozygous SETBP1 mutation in a Chinese girl with Fanconi Anemia Fulltext Access 5 Pages 2017
A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins Fulltext Access 5 Pages 2017
16p11.2 de novo microdeletion encompassing SRCAP gene in a patient with speech impairment, global developmental delay and behavioural problems Fulltext Access 5 Pages 2017
First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features Fulltext Access 5 Pages 2017
A novel missense variant (Gln220Arg) of GNB4 encoding guanine nucleotide-binding protein, subunit beta-4 in a Japanese family with autosomal dominant motor and sensory neuropathy Fulltext Access 5 Pages 2017
Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1 Fulltext Access 5 Pages 2017
The first patient with sporadic X-linked intellectual disability with de novo ZDHHC9 mutation identified by targeted next-generation sequencing Fulltext Access 5 Pages 2017
Early fetal presentation of Koolen-de Vries: Case report with literature review Fulltext Access 5 Pages 2017
De novo sequencing and comparative analysis of peduncle transcriptomes in Hovenia acerba Fulltext Access 5 Pages 2017
Cierre percutáneo de conducto arterioso mediante un asa arteriovenosa en un paciente con sÃndrome de la cimitarra Fulltext Access 5 Pages 2017
Archibald Cochrane: evidencia, efectividad y toma de decisiones en salud Fulltext Access 5 Pages 2017
Small non-coding RNAs as regulators of structural evolution and carcinogenesis Fulltext Access 5 Pages 2017
Non-coding RNAs are promising targets for stem cell-based cancer therapy Fulltext Access 5 Pages 2017
Optimization of expression JTAT protein with emphasis on transformation efficiency and IPTG concentration Fulltext Access 5 Pages 2017
A homozygote TREX1 mutation in two siblings with different phenotypes: Chilblains and cerebral vasculitis Fulltext Access 5 Pages 2017
A chinese boy with geleophysic dysplasia caused by compound heterozygous mutations in ADAMTSL2 Fulltext Access 5 Pages 2017
Familial 9q33q34 microduplication in siblings with developmental disorders and macrocephaly Fulltext Access 5 Pages 2017
Tratamiento observacional vs. ablativo de las lesiones intraepiteliales escamosas de bajo grado. Estudio de cohorte pareado retrospectivo. Enero 2010-Enero 2014 Fulltext Access 5 Pages 2017
Repercusión de la resonancia magnética nuclear mamaria en el tratamiento final del cáncer de mama Fulltext Access 5 Pages 2017
El abdomen agudo en el embarazo aumenta el riesgo de complicaciones obstétricas sin influir en el pronóstico materno-fetal Fulltext Access 5 Pages 2017
Tumor de células esteroideas sin otra especificación: reporte de un caso Fulltext Access 5 Pages 2017
Gestación ectópica molar abscesificada sobre cicatriz de cesárea anterior, a propósito de un caso Fulltext Access 5 Pages 2017
Malformaciones congénitas en mujeres sometidas a técnicas de reproducción asistida Fulltext Access 5 Pages 2017
The role of cystatin A in breast cancer and its functional link with ERα Fulltext Access 5 Pages 2017
Development of a multiplex PCR for identification of β-hemolytic streptococci relevant to human infections and serotype distribution of invasive Streptococcus agalactiae in Thailand Fulltext Access 5 Pages 2017
Salicylic acid affects the expression of VvCBF4 gene in grapes subjected to low temperature Fulltext Access 5 Pages 2017
Short communicationCopy-number variation of housekeeping gene rpl13a in rat strains selected for nervous system excitability Fulltext Access 5 Pages 2017
Purification and characterization of deoxyribonuclease from small intestine of camel Camelus dromedarius Fulltext Access 5 Pages 2017
New polymorphism in the 5â² flanking region of IGF-1 gene and its association with wool traits in Egyptian Barki sheep Fulltext Access 5 Pages 2017
Significance of growth differentiation factor 15 in chronic HCV patients Fulltext Access 5 Pages 2017
Association of a Cac8I polymorphism in the IGF1 gene with growth traits in Indian goats Fulltext Access 5 Pages 2017
A comparison of the reactivating and therapeutic efficacy of two novel bispyridinium oximes (K305, K307) with the oxime K203 and trimedoxime in tabun-poisoned rats and mice Fulltext Access 5 Pages 2017
Ioduria and type 1 diabetes mellitus - Relationships to selected clinical markers of diabetes in adults Fulltext Access 5 Pages 2017
Comparison of DNA fragmentation of frozen-thawed epididymal sperm of dogs using Sperm Chromatin Structure Analysis and Sperm Chromatin Dispersion test Fulltext Access 5 Pages 2017
Short Genome CommunicationsComplete genome sequence of the nematicidal Bacillus thuringiensis MYBT18247 Fulltext Access 5 Pages 2017
Research PaperInvestigation of the effect of pomegranate extract and monodisperse silver nanoparticle combination on MCF-7 cell line Fulltext Access 5 Pages 2017
Outcome of Allogeneic and Autologous Hematopoietic Cell Transplantation for High-Risk Peripheral T Cell Lymphomas: A Retrospective Analysis From a Chinese Center Fulltext Access 5 Pages 2017
Short CommunicationCancer in Machado-Joseph disease patients-low frequency as a cause of death Fulltext Access 5 Pages 2017
Original ArticleA rare case of pediatric lipoma with t(9;12)(p22;q14) and evidence of HMGA2-NFIB gene fusion Fulltext Access 5 Pages 2017
Short CommunicationA novel somatic JAK2 kinase-domain mutation in pediatric acute lymphoblastic leukemia with rapid on-treatment development of LOH Fulltext Access 5 Pages 2017
Short CommunicationAcute myeloid leukemia with t(14;21) involving RUNX1 and SYNE2: A novel favorable-risk translocation? Fulltext Access 5 Pages 2017
Next-generation sequencing and molecular cytogenetic characterization of ETV6-LYN fusion due to chromosomes 1, 8 and 12 rearrangement in acute myeloid leukemia Fulltext Access 5 Pages 2017
Is intrachromosomal amplification of chromosome 21 (iAMP21) always intrachromosomal? Fulltext Access 5 Pages 2017
The Case for High Resolution Extended 6-Loci HLA Typing for Identifying Related Donors in the Indian Subcontinent Fulltext Access 5 Pages 2017
In-Hospital Mortality and Post-Transplantation Complications in Elderly Multiple Myeloma Patients Undergoing Autologous Hematopoietic Stem Cell Transplantation: A Population-Based Study Fulltext Access 5 Pages 2017
Allogeneic Hematopoietic Cell Transplantation for Adult T Cell Acute Lymphoblastic Leukemia Fulltext Access 5 Pages 2017
AutologousAge over Fifty-Five Years at Diagnosis Increases Risk of Second Malignancies after Autologous Transplantation for Patients with Hodgkin Lymphoma Fulltext Access 5 Pages 2017
BiomarkersRelative Telomere Length before Hematopoietic Cell Transplantation and Outcome after Unrelated Donor Hematopoietic Cell Transplantation for Acute Leukemia Fulltext Access 5 Pages 2017
Malignant HematopoiesisPRKCH regulates hematopoietic stem cell function and predicts poor prognosis in acute myeloid leukemia Fulltext Access 5 Pages 2017
Allogeneic: AdultEvaluation of Hematopoietic Stem Cell Mobilization Rates with Early Plerixafor Administration for Adult Stem Cell Transplantation Fulltext Access 5 Pages 2017
AutologousHyperfractionated Cyclophosphamide, Vincristine, Doxorubicin, and Dexamethasone Chemotherapy in Mantle Cell Lymphoma Patients Is Associated with Higher Rates of Hematopoietic Progenitor Cell Mobilization Failure despite Plerixafor Rescue Fulltext Access 5 Pages 2017
Short communicationComplete genome sequence of Serratia sp. YD25 (KCTC 42987) presenting strong antagonistic activities to various pathogenic fungi and bacteria Fulltext Access 5 Pages 2017
Short communicationComplete genome sequence of Amycolatopsis orientalis CPCC200066, the producer of norvancomycin Fulltext Access 5 Pages 2017
Genome sequence of Methanobacterium congolense strain Buetzberg, a hydrogenotrophic, methanogenic archaeon, isolated from a mesophilic industrial-scale biogas plant utilizing bio-waste Fulltext Access 5 Pages 2017
Short Genome CommunicationsWhole-genome sequencing of Bacillus velezensis LS69, a strain with a broad inhibitory spectrum against pathogenic bacteria Fulltext Access 5 Pages 2017
Novel spectrophotometric technique for rapid determination of extractable PHA using Sudan black dye Fulltext Access 5 Pages 2017
Short communicationThe complete genome sequence of Streptomyces autolyticus CGMCC 0516, the producer of geldanamycin, autolytimycin, reblastatin and elaiophylin Fulltext Access 5 Pages 2017
Short communicationMolecular detection and genomic characterization of Torque teno canis virus in domestic dogs in Guangxi Province, China Fulltext Access 5 Pages 2017
A comparison of DNA fragmentation methods â Applications for the biochip technology Fulltext Access 5 Pages 2017
Short Genome CommunicationsThe complete genome sequence of Streptomyces albolongus YIM 101047, the producer of novel bafilomycins and odoriferous sesquiterpenoids Fulltext Access 5 Pages 2017
Microcephalic osteodysplastic primordial dwarfism (MOPD) type I with severe anemia and MRI brain findings of MOPD type II Fulltext Access 5 Pages 2017
Leishmania-FAST15: A rapid, sensitive and low-cost real-time PCR assay for the detection of Leishmania infantum and Leishmania braziliensis kinetoplast DNA in canine blood samples Fulltext Access 5 Pages 2017
Short communicationSequence analysis of haemagglutinin and neuraminidase of H1N1 strain from a patient coinfected with Mycobacterium tuberculosis Fulltext Access 5 Pages 2017
Short communicationA PCR-based protocol to accurately size C9orf72 intermediate-length alleles Fulltext Access 5 Pages 2017
Short communicationDevelopment of a real-time PCR for Bartonella spp. detection, a current emerging microorganism Fulltext Access 5 Pages 2017
Conservation of BMP2/4 expression patterns within the clade Branchiostoma (amphioxus): Resolving interspecific discrepancies Fulltext Access 5 Pages 2017
Embryonic expression patterns of Eukaryotic EndoU ribonuclease family gene endouC in zebrafish Fulltext Access 5 Pages 2017
C syndrome with skeletal anomalies, mental retardation, eyelid chalazion, Bitot's spots and agenesis of the corpus callosum in an Egyptian child Fulltext Access 5 Pages 2017
Genotypes of GSTM1 and GSTT1: Useful determinants for clinical outcome of bladder cancer in Pakistani population Fulltext Access 5 Pages 2017
Two Libyan siblings with beta-ketothiolase deficiency: A case report and review of literature Fulltext Access 5 Pages 2017
A germline RET proto-oncogene mutation in multiple members of an Arab family with variable onset of MEN type 2A-associated clinical manifestations Fulltext Access 5 Pages 2017
Alu insertion/deletion of ACE gene polymorphism might not affect significantly the serum bradykinin level in hypertensive patients taking ACE inhibitors Fulltext Access 5 Pages 2017
NUCB2/Nesfatin-1: A Potent Meal Regulatory Hormone and its Role in Diabetes Fulltext Access 5 Pages 2017
Short Genome CommunicationsThe complete genome sequence of the actinobacterium Streptomyces glaucescens GLA.O (DSM 40922) carrying gene clusters for the biosynthesis of tetracenomycin C, 5`-hydroxy streptomycin, and acarbose Fulltext Access 5 Pages 2017
Distribution of HLA-DRB1/DQB1 alleles and DRB1-DQB1 haplotypes among Tunisian patients with autoimmune hepatitis Fulltext Access 5 Pages 2017
Progressive pseudorheumatoid dysplasia in North and West Africa: Clinical description in ten patients with mutations of WISP3 Fulltext Access 5 Pages 2017
Contribution of coagulation factor VII R353Q polymorphism to the risk of thrombotic disorders development (venous and arterial): A case-control study Fulltext Access 5 Pages 2017
Vitamin D status, receptor gene BsmI (A/G) polymorphism and breast cancer in a group of Egyptian females Fulltext Access 5 Pages 2017
Copaifera multijuga oleoresin and its constituent diterpene (â)-copalic acid: Genotoxicity and chemoprevention study Fulltext Access 5 Pages 2017
In vivo reporter gene mutation and micronucleus assays in gpt delta mice treated with a flame retardant decabromodiphenyl ether Fulltext Access 5 Pages 2017
Short communicationBisdemethoxycurcumin enhances X-ray-induced apoptosis possibly through p53/Bcl-2 pathway Fulltext Access 5 Pages 2017
DNA damage levels in electronics workers in Southern China: A micro-whole blood comet assay Fulltext Access 5 Pages 2017
ReviewRegulation of repair pathway choice at two-ended DNA double-strand breaks Fulltext Access 5 Pages 2017
PerspectiveTargeting the transcription factor Myb by small-molecule inhibitors Fulltext Access 5 Pages 2017