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 6092 of 10600

Poikiloderma with neutropenia: genotype-ethnic origin correlation, expanding phenotype and literature review.
American journal of medical genetics. Part A | 2014-10-01 | PMID 25044170
Koparir Asuman, Gezdirici Alper, Koparir Erkan and 5 more
Genes: USB1
Comparative epigenomics: defining and utilizing epigenomic variations across species, time-course, and individuals.
Wiley interdisciplinary reviews. Systems biology and medicine | 2000-01-01 | PMID 25044241
Xiao Shu, Cao Xiaoyi, Zhong Sheng
PedBLIMP: extending linear predictors to impute genotypes in pedigrees.
Genetic epidemiology | 2014-09-01 | PMID 25044249
Chen Wenan, Schaid Daniel J
Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome.
Annals of neurology | 2014-10-01 | PMID 25044251
Pescosolido Matthew F, Stein David M, Schmidt Michael and 8 more
Simultaneous and independent tuning of RhoA and Rac1 activity with orthogonally inducible promoters.
Integrative biology : quantitative biosciences from nano to macro | 2014-09-01 | PMID 25044255
MacKay Joanna L, Kumar Sanjay
The miR-137 schizophrenia susceptibility variant rs1625579 does not predict variability in brain volume in a sample of schizophrenic patients and healthy individuals.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics | 2014-09-01 | PMID 25044277
Rose Emma J, Morris Derek W, Fahey Ciara and 7 more
Missing genetic risk in neural tube defects: can exome sequencing yield an insight?
Birth defects research. Part A, Clinical and molecular teratology | 2014-08-01 | PMID 25044326
Krupp Deidre R, Soldano Karen L, Garrett Melanie E and 3 more
Combining diffusion tensor imaging and magnetic resonance spectroscopy to study reduced frontal white matter integrity in youths with family histories of substance use disorders.
Human brain mapping | 2014-12-01 | PMID 25044331
Acheson Ashley, Wijtenburg S Andrea, Rowland Laura M and 10 more
Genes: FH
Flexible and robust methods for rare-variant testing of quantitative traits in trios and nuclear families.
Genetic epidemiology | 2014-09-01 | PMID 25044337
Jiang Yunxuan, Conneely Karen N, Epstein Michael P
Gene alterations involving the CRLF2-JAK pathway and recurrent gene deletions in Down syndrome-associated acute lymphoblastic leukemia in Japan.
Genes, chromosomes & cancer | 2014-11-01 | PMID 25044358
Hanada Isamu, Terui Kiminori, Ikeda Fumika and 21 more
Genes: CRLF2, EBF1, IKZF1, BTG1, JAK2, PAX5
Comparison of lipids, fatty acids and volatile compounds of various kumquat species using HS/GC/MS/FID techniques.
Journal of the science of food and agriculture | 2015-04-01 | PMID 25044361
Güney Murat, Oz Ayse Tulin, Kafkas Ebru
Donor NK cell licensing in control of malignancy in hematopoietic stem cell transplant recipients.
American journal of hematology | 2014-10-01 | PMID 25044365
Nowak Jacek, Kościńska Katarzyna, Mika-Witkowska Renata and 34 more
Genome-wide association and network analysis of lung function in the Framingham Heart Study.
Genetic epidemiology | 2014-09-01 | PMID 25044411
Liao Shu-Yi, Lin Xihong, Christiani David C
Genes: CTNNB1, EPHB1, LYN, NRG1, SMAD3, TGFBR2, VCAN
Recurrent RHOA mutations in pediatric Burkitt lymphoma treated according to the NHL-BFM protocols.
Genes, chromosomes & cancer | 2014-11-01 | PMID 25044415
Rohde Marius, Richter Julia, Schlesner Matthias and 14 more
Genes: RHOA, MYC
A general efficient and flexible approach for genome-wide association analyses of imputed genotypes in family-based designs.
Genetic epidemiology | 2014-09-01 | PMID 25044438
Cobat Aurélie, Abel Laurent, Alcaïs Alexandre and 1 more
Genes: RAB32
Generalizability of established prostate cancer risk variants in men of African ancestry.
International journal of cancer | 2015-03-01 | PMID 25044450
Han Ying, Signorello Lisa B, Strom Sara S and 40 more
Contribution of each Trp residue toward the intrinsic fluorescence of the Giα1 protein.
Protein science : a publication of the Protein Society | 2014-10-01 | PMID 25044474
Najor Matthew S, Olsen Kenneth W, Graham Daniel J and 1 more
A genome-wide linkage scan of bipolar disorder in Latino families identifies susceptibility loci at 8q24 and 14q32.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics | 2014-09-01 | PMID 25044503
Gonzalez Suzanne, Camarillo Cynthia, Rodriguez Marco and 13 more
Genes: DPP10
The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients.
American journal of medical genetics. Part A | 2014-09-01 | PMID 25044551
Nishimoto Hiromi Koso, Ha Kyungsoo, Jones Julie R and 4 more
An abnormal lymphatic phenotype is associated with subcutaneous adipose tissue deposits in Dercum's disease.
Obesity (Silver Spring, Md.) | 2014-10-01 | PMID 25044620
Rasmussen John C, Herbst Karen L, Aldrich Melissa B and 7 more
Insights into the regulatory domain of cystathionine Beta-synthase: characterization of six variant proteins.
Human mutation | 2014-10-01 | PMID 25044645
Mendes Marisa I S, Santos Ana Sofia, Smith Desirée E C and 8 more
Genes: CBS
A novel WDR45 mutation in a patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA).
American journal of medical genetics. Part A | 2014-09-01 | PMID 25044655
Ozawa Tadashi, Koide Reiji, Nakata Yasuhiro and 5 more
Anti-obesity and pro-diabetic effects of hemochromatosis.
Obesity (Silver Spring, Md.) | 2014-10-01 | PMID 25044717
Abbas Mousa Al, Abraham Deveraprabu, Kushner James P and 1 more
Genes: HFE
Delineating the phenotype of 1p36 deletion in adolescents and adults.
American journal of medical genetics. Part A | 2014-10-01 | PMID 25044719
Brazil Ashley, Stanford Kevin, Smolarek Teresa and 1 more
Mutation of POC1B in a severe syndromic retinal ciliopathy.
Human mutation | 2014-10-01 | PMID 25044745
Beck Bodo B, Phillips Jennifer B, Bartram Malte P and 27 more
Genome-wide association study of height-adjusted BMI in childhood identifies functional variant in ADCY3.
Obesity (Silver Spring, Md.) | 2014-10-01 | PMID 25044758
Stergiakouli Evangelia, Gaillard Romy, Tavaré Jeremy M and 14 more
Genes: ADCY3
Online registry for mutations in hereditary amyloidosis including nomenclature recommendations.
Human mutation | 2014-09-01 | PMID 25044787
Rowczenio Dorota M, Noor Islam, Gillmore Julian D and 7 more
Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation.
American journal of medical genetics. Part A | 2014-10-01 | PMID 25044788
Lonardo Fortunato, Di Natale Paola, Lualdi Susanna and 8 more
Genes: IDS
Evidence against RAB40AL being the locus for Martin-Probst X-linked deafness-intellectual disability syndrome.
Human mutation | 2014-10-01 | PMID 25044830
Ołdak Monika, Ścieżyńska Aneta, Młynarski Wojciech and 9 more
Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2.
American journal of medical genetics. Part A | 2014-10-01 | PMID 25044890
Mitsui Toshikatsu, Kim Ok-Hwa, Hall Christine M and 10 more
Genes: GNAS
Functional analyses of mutations in HEPACAM causing megalencephalic leukoencephalopathy.
Human mutation | 2014-10-01 | PMID 25044933
Arnedo Tanit, López-Hernández Tania, Jeworutzki Elena and 4 more
Genes: HEPACAM, MLC1
Modulation of mouse macrophage polarization in vitro using IL-4 delivery by osmotic pumps.
Journal of biomedical materials research. Part A | 2015-04-01 | PMID 25044942
Pajarinen Jukka, Tamaki Yasunobu, Antonios Joseph K and 6 more
Spread of X inactivation on chromosome 15 is associated with a more severe phenotype in a girl with an unbalanced t(X; 15) translocation.
American journal of medical genetics. Part A | 2014-10-01 | PMID 25044945
Yeung K S, Chee Y Y, Luk H M and 7 more
BDNF Val66Met genotype interacts with childhood adversity and influences the formation of hippocampal subfields.
Human brain mapping | 2014-12-01 | PMID 25044977
Frodl Thomas, Skokauskas Norbert, Frey Eva-Maria and 3 more
Genes: BDNF
Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytes.
American journal of medical genetics. Part A | 2014-10-01 | PMID 25044986
Emrick Lisa T, Murphy Lauren, Shamshirsaz Alireza A and 7 more
Phenotypic expression in human monocyte-derived interleukin-4-induced foreign body giant cells and macrophages in vitro: dependence on material surface properties.
Journal of biomedical materials research. Part A | 2015-04-01 | PMID 25045023
McNally Amy K, Anderson James M
Fetal akinesia deformation sequence: expanding the phenotypic spectrum.
American journal of medical genetics. Part A | 2014-10-01 | PMID 25045026
Nayak Shalini S, Kadavigere Rajagopal, Mathew Mary and 3 more
Apert syndrome with omphalocele: a case report.
Birth defects research. Part A, Clinical and molecular teratology | 2014-09-01 | PMID 25045033
Ercoli Gabriel, Bidondo María Paz, Senra Blanca Cristina and 1 more
An osteosclerotic form of Robinow syndrome.
American journal of medical genetics. Part A | 2014-10-01 | PMID 25045061
Bunn Kieran J, Lai Angeline, Al-Ani Azza and 3 more
Genetic variants in BRIP1 (BACH1) contribute to risk of nonsyndromic cleft lip with or without cleft palate.
Birth defects research. Part A, Clinical and molecular teratology | 2014-09-01 | PMID 25045080
Mostowska Adrianna, Hozyasz Kamil K, Wójcicki Piotr and 5 more
Genes: BRIP1, BACH1, BLM, ATM, BRCA1, MLH1, MSH2, MSH6
Lung cancer adrenal gland metastasis: Optimal fine-needle aspirate and touch preparation smear cellularity characteristics for successful theranostic next-generation sequencing.
Cancer cytopathology | 2014-11-01 | PMID 25045116
Gleeson Ferga C, Kipp Benjamin R, Levy Michael J and 7 more
Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.
American journal of medical genetics. Part A | 2014-09-01 | PMID 25045128
Bayram Yavuz, Pehlivan Davut, Karaca Ender and 13 more
Genes: ANTXR1
Diagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome.
American journal of medical genetics. Part A | 2014-10-01 | PMID 25045150
Watson Christopher M, Crinnion Laura A, Tzika Antigoni and 10 more
Genes: CNTNAP2
Immunophenotypes and immune markers associated with acute promyelocytic leukemia prognosis.
Disease markers | 2014-01-01 | PMID 25045197
Xu Fang, Yin Chang-Xin, Wang Chun-Li and 6 more
Clinical significance of previously cryptic copy number alterations and loss of heterozygosity in pediatric acute myeloid leukemia and myelodysplastic syndrome determined using combined array comparative genomic hybridization plus single-nucleotide polymorphism microarray analyses.
Journal of Korean medical science | 2014-07-01 | PMID 25045224
Koh Kyung-Nam, Lee Jin Ok, Seo Eul Ju and 4 more
The significance of clinical and laboratory features in the diagnosis of glycogen storage disease type v: a case report.
Journal of Korean medical science | 2014-07-01 | PMID 25045239
Park Hyung Jun, Shin Ha Young, Cho Yu Na and 2 more
Genes: PYGM
Nanoformulated cell-penetrating survivin mutant and its dual actions.
International journal of nanomedicine | 2014-01-01 | PMID 25045261
Sriramoju Bhasker, Kanwar Rupinder K, Kanwar Jagat R
The effect of 5-aminoimidazole-4-carboxamide-ribonucleoside was mediated by p38 mitogen activated protein kinase signaling pathway in FRO thyroid cancer cells.
The Korean journal of internal medicine | 2014-07-01 | PMID 25045295
Kim Won Gu, Choi Hyun-Jeung, Kim Tae Yong and 2 more
Genes: BRAF
Extended genetic diversity of bovine viral diarrhea virus and frequency of genotypes and subtypes in cattle in Italy between 1995 and 2013.
BioMed research international | 2014-01-01 | PMID 25045658
Luzzago Camilla, Lauzi Stefania, Ebranati Erika and 12 more
Serum anti-Müllerian hormone and insulin resistance in the main phenotypes of non-obese polycystic ovarian syndrome women in China.
Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology | 2014-11-01 | PMID 25045796
Tian Xuanxuan, Ruan Xiangyan, Mueck Alfred O and 7 more
Genes: AMH
Methylation of suppressor of cytokine signalling 1 gene promoter is associated with acute-on-chronic hepatitis B liver failure.
Journal of viral hepatitis | 2015-03-01 | PMID 25045829
Zhang J-J, Fan Y-C, Zhang Z-H and 9 more
Genes: SOCS1, TNF
Novel genotypes of Trypanosoma binneyi from wild platypuses (Ornithorhynchus anatinus) and identification of a leech as a potential vector.
Experimental parasitology | 2014-10-01 | PMID 25045852
Paparini Andrea, Macgregor James, Irwin Peter J and 2 more
Probing treatment response of glutaminolytic prostate cancer cells to natural drugs with hyperpolarized [5-(13) C]glutamine.
Magnetic resonance in medicine | 2015-06-01 | PMID 25045880
Canapè Carolina, Catanzaro Giuseppina, Terreno Enzo and 3 more
Evaluation of measures of correctness of genotype imputation in the context of genomic prediction: a review of livestock applications.
Animal : an international journal of animal bioscience | 2014-11-01 | PMID 25045914
Calus M P L, Bouwman A C, Hickey J M and 2 more
Genes: MAF
Production of haploid zebrafish embryos by in vitro fertilization.
Journal of visualized experiments : JoVE | 2014-07-14 | PMID 25046024
Kroeger Paul T, Poureetezadi Shahram Jevin, McKee Robert and 3 more
[The same nasal tip deformity in three siblings].
Kulak burun bogaz ihtisas dergisi : KBB = Journal of ear, nose, and throat | 2000-01-01 | PMID 25046072
Aydın Emine, Aydoğan Filiz, Taştan Eren and 2 more
CHIPS for genetic testing to improve a regional clinical genetic service.
Clinical genetics | 2015-08-01 | PMID 25046119
Niida Y, Ozaki M, Inoue M and 7 more
Genes: CEL
Excisions of a defective transposable CACTA element (Tetu1) generate new alleles of a CYCLOIDEA-like gene of Helianthus annuus.
Gene | 2014-10-01 | PMID 25046140
Fambrini Marco, Basile Alice, Salvini Mariangela and 1 more
The metastatic microenvironment: Claudin-1 suppresses the malignant phenotype of melanoma brain metastasis.
International journal of cancer | 2015-03-15 | PMID 25046141
Izraely Sivan, Sagi-Assif Orit, Klein Anat and 12 more
Genes: CLDN1
Daclatasvir-like inhibitors of NS5A block early biogenesis of hepatitis C virus-induced membranous replication factories, independent of RNA replication.
Gastroenterology | 2014-11-01 | PMID 25046163
Berger Carola, Romero-Brey Inés, Radujkovic Danijela and 9 more
Genetic variation of human respiratory syncytial virus among children with fever and respiratory symptoms in Shanghai, China, from 2009 to 2012.
Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases | 2014-10-01 | PMID 25046173
Liu Jia, Mu Yonglin, Dong Wei and 5 more
Personalized oncology: genomic screening in phase 1.
APMIS : acta pathologica, microbiologica, et immunologica Scandinavica | 2014-08-01 | PMID 25046202
Tuxen Ida Viller, Jønson Lars, Santoni-Rugiu Eric and 3 more
Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.
Clinical genetics | 2015-07-01 | PMID 25046240
Dyment D A, Tétreault M, Beaulieu C L and 13 more
Genes: ASAH1, FOLR1, KCNQ2, SYNGAP1, SYNJ1
What is new in genetics and osteogenesis imperfecta classification?
Jornal de pediatria | 2000-01-01 | PMID 25046257
Valadares Eugênia R, Carneiro Túlio B, Santos Paula M and 2 more
Genes: BMP1, CRTAP, FKBP10, IFITM5, PLOD2, PLS3, PPIB, SERPINF1
Mutation, clonal fitness and field change in epithelial carcinogenesis.
The Journal of pathology | 2014-11-01 | PMID 25046364
Frede Julia, Adams David J, Jones Philip H
Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients.
Muscle & nerve | 2014-12-01 | PMID 25046369
Bartoli Marc, Desvignes Jean-Pierre, Nicolas Levy and 1 more
Genes: DYSF
Introduction of water into the heme distal side by Leu65 mutations of an oxygen sensor, YddV, generates verdoheme and carbon monoxide, exerting the heme oxygenase reaction.
Journal of inorganic biochemistry | 2014-11-01 | PMID 25046385
Stranava Martin, Martínková Markéta, Stiborová Marie and 6 more
Retinal pigment epithelium findings in patients with albinism using wide-field polarization-sensitive optical coherence tomography.
Retina (Philadelphia, Pa.) | 2014-11-01 | PMID 25046395
Schütze Christopher, Ritter Markus, Blum Robert and 5 more
Genes: RPE
PACHYCHOROID: an inherited condition?
Retina (Philadelphia, Pa.) | 2015-01-01 | PMID 25046398
Lehmann Mathieu, Bousquet Elodie, Beydoun Talal and 1 more
The functional polymorphisms of VDR, GC and CYP2R1 are involved in the pathogenesis of autoimmune thyroid diseases.
Clinical and experimental immunology | 2014-11-01 | PMID 25046415
Inoue N, Watanabe M, Ishido N and 4 more
Genes: VDR
Exome sequencing for gene discovery in lethal fetal disorders--harnessing the value of extreme phenotypes.
Prenatal diagnosis | 2015-10-01 | PMID 25046514
Filges Isabel, Friedman Jan M
Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray.
Clinical and experimental immunology | 2014-12-01 | PMID 25046553
Bayer D K, Martinez C A, Sorte H S and 22 more
Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease.
Clinica chimica acta; international journal of clinical chemistry | 2014-11-01 | PMID 25046559
Gago-Díaz Marina, Blanco-Verea Alejandro, Teixidó-Turà Gisela and 9 more
Genes: TGFB2, ACTA2, FBN1, MYH11, MYLK, SMAD3, TGFBR1, TGFBR2
Familial aggregation of candidate phenotypes for borderline personality disorder.
Personality disorders | 2015-01-01 | PMID 25046574
Ruocco Anthony C, Hudson James I, Zanarini Mary C and 1 more
Clinical significance of POU5F1P1 rs10505477 polymorphism in Chinese gastric cancer patients receving cisplatin-based chemotherapy after surgical resection.
International journal of molecular sciences | 2014-07-18 | PMID 25046748
Shen Lili, Du Mulong, Wang Chun and 11 more
Expression of a functional jasmonic acid carboxyl methyltransferase is negatively correlated with strawberry fruit development.
Journal of plant physiology | 2014-09-15 | PMID 25046752
Preuß Anja, Augustin Christiane, Figueroa Carlos R and 4 more
The Camelina aquaporin CsPIP2;1 is regulated by phosphorylation at Ser273, but not at Ser277, of the C-terminus and is involved in salt- and drought-stress responses.
Journal of plant physiology | 2014-09-15 | PMID 25046761
Jang Ha-Young, Rhee Jiye, Carlson John E and 1 more
Genes: PIP
Combined DNA methylation and gene expression profiling in gastrointestinal stromal tumors reveals hypomethylation of SPP1 as an independent prognostic factor.
International journal of cancer | 2015-03-01 | PMID 25046773
Haller Florian, Zhang Jitao David, Moskalev Evgeny A and 16 more
Genes: SPP1
Kinetics of hepatitis B surface antigen loss in patients with HBeAg-positive chronic hepatitis B treated with tenofovir disoproxil fumarate.
Journal of hepatology | 2014-12-01 | PMID 25046847
Marcellin Patrick, Buti Maria, Krastev Zahari and 14 more
Prevalence and assessment of role of SEN virus in acute and chronic hepatitis in India.
Tropical gastroenterology : official journal of the Digestive Diseases Foundation | 2000-01-01 | PMID 25046884
Rizvi Meher, Jahan Shafquat, Azam Mohd and 4 more
Globotriaosylsphingosine (lyso-Gb3) might not be a reliable marker for monitoring the long-term therapeutic outcomes of enzyme replacement therapy for late-onset Fabry patients with the Chinese hotspot mutation (IVS4+919G>A).
Orphanet journal of rare diseases | 2014-07-22 | PMID 25047006
Liu Hao-Chuan, Lin Hsiang-Yu, Yang Chia-Feng and 9 more
Phenotype of SDHB mutation carriers in the Netherlands.
Familial cancer | 2014-12-01 | PMID 25047027
van Hulsteijn Leonie T, Niemeijer Nienke D, Hes Frederik J and 4 more
Genes: SDHB
Histopathological spectrum of paediatric diffuse intrinsic pontine glioma: diagnostic and therapeutic implications.
Acta neuropathologica | 2014-10-01 | PMID 25047029
Buczkowicz Pawel, Bartels Ute, Bouffet Eric and 2 more
Genes: ACVR1, PDGFRA
A gatekeeper helix determines the substrate specificity of Sjögren-Larsson Syndrome enzyme fatty aldehyde dehydrogenase.
Nature communications | 2014-07-22 | PMID 25047030
Keller Markus A, Zander Ulrich, Fuchs Julian E and 9 more
Personalized prostate cancer screening among men with high risk genetic predisposition- study protocol for a prospective cohort study.
BMC cancer | 2014-07-21 | PMID 25047061
Margel David, Benjaminov Ofer, Ozalvo Rachel and 12 more
Genes: BRCA1, BRCA2
Differential Bees Flux Balance Analysis with OptKnock for in silico microbial strains optimization.
PloS one | 2014-01-01 | PMID 25047076
Choon Yee Wen, Mohamad Mohd Saberi, Deris Safaai and 5 more
The evolutionary consequences of disrupted male mating signals: an agent-based modelling exploration of endocrine disrupting chemicals in the guppy.
PloS one | 2014-01-01 | PMID 25047080
Senior Alistair McNair, Nakagawa Shinichi, Grimm Volker
Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population.
Clinical genetics | 2015-08-01 | PMID 25047097
Fedick A M, Shi L, Jalas C and 6 more
Genes: RTEL1
Clinical course of juvenile myelomonocytic leukemia in the blast crisis phase treated by acute myeloid leukemia-oriented chemotherapy and allogeneic hematopoietic stem cell transplantation.
International journal of hematology | 2014-11-01 | PMID 25047104
Ueda Satoshi, Sakata Naoki, Muramatsu Hideki and 7 more
Genes: PTPN11
Resistance to cardiomyocyte hypertrophy in ae3-/- mice, deficient in the AE3 Cl-/HCO3- exchanger.
BMC cardiovascular disorders | 2014-07-21 | PMID 25047106
Sowah Daniel, Brown Brittany F, Quon Anita and 2 more
Twenty years of acanthamoeba diagnostics in Austria.
The Journal of eukaryotic microbiology | 2000-01-01 | PMID 25047131
Walochnik Julia, Scheikl Ute, Haller-Schober Eva-Maria
[Homozygous and compound heterozygous RYR1 mutations. New findings on prevalence and penetrance of malignant hyperthermia].
Der Anaesthesist | 2014-09-01 | PMID 25047158
Wolak S, Rücker B, Kohlschmidt N and 4 more
Genes: RYR1
Systematic evaluation of the prognostic impact and intratumour heterogeneity of clear cell renal cell carcinoma biomarkers.
European urology | 2014-11-01 | PMID 25047176
Gulati Sakshi, Martinez Pierre, Joshi Tejal and 10 more
Genes: EDNRB, TSPAN7
A new mycinosyl rosamicin derivative produced by an engineered Micromonospora rosaria mutant with a cytochrome P450 gene disruption introducing the D-mycinose biosynthetic gene.
Journal of industrial microbiology & biotechnology | 2014-09-01 | PMID 25047182
Iizaka Yohei, Higashi Noriko, Li Wei and 3 more
Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome.
Nature communications | 2014-07-22 | PMID 25047197
Lynch Danielle C, Revil Timothée, Schwartzentruber Jeremy and 16 more
Genes: SNRPB
Ruling in or ruling out thyroid malignancy by molecular diagnostics of thyroid nodules.
Best practice & research. Clinical endocrinology & metabolism | 2014-08-01 | PMID 25047205
Eszlinger Markus, Hegedüs László, Paschke Ralf
Genes: BRAF, HRAS, KRAS, NRAS, PAX8, PPARG, RET
Moderation of maltreatment effects on childhood borderline personality symptoms by gender and oxytocin receptor and FK506 binding protein 5 genes.
Development and psychopathology | 2014-08-01 | PMID 25047302
Cicchetti Dante, Rogosch Fred A, Hecht Kathryn F and 2 more
Tumour necrosis factor-alpha gene polymorphisms in Iranian patients with biliary atresia.
African journal of paediatric surgery : AJPS | 2000-01-01 | PMID 25047315
Fotouhi Nikou, Bonyadi Morteza, Jahanafrooz Zohreh and 6 more
Genes: TNF
Investigations on the pattern of linkage disequilibrium and selection signatures in the genomes of German Piétrain pigs.
Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie | 2014-12-01 | PMID 25047461
Stratz P, Wimmers K, Meuwissen T H E and 1 more
The hMLH1 -93G>A promoter polymorphism is associates with outcomes in oral squamous cell carcinoma patients.
Annals of surgical oncology | 2014-12-01 | PMID 25047469
Lin Li-Han, Lin Ming-Wei, Mar Kwei and 6 more