標(biāo)題: Titlebook: JIMD Reports, Volume 23; Johannes Zschocke,Matthias Baumgartner,Verena Pete Book 2015 SSIEM and Springer-Verlag Berlin Heidelberg 2015 Men [打印本頁] 作者: FERN 時間: 2025-3-21 17:02
書目名稱JIMD Reports, Volume 23影響因子(影響力)
作者: macrophage 時間: 2025-3-21 20:47 作者: hazard 時間: 2025-3-22 01:33 作者: Accolade 時間: 2025-3-22 06:39
,The Modulatory Effects of the Polymorphisms in , 5′-Untranslated Region Upon Gene Expression Are Ceuman cell lines. Group-wise, the relative luciferase expression patterns of the various . variant isoforms differed significantly in all four cell lines, as evaluated by non-parametric statistics, and were cell-type specific. Some of the post hoc pairwise statistical comparisons were also significan作者: entrance 時間: 2025-3-22 09:00 作者: 展覽 時間: 2025-3-22 14:40 作者: headlong 時間: 2025-3-22 20:45 作者: Melanoma 時間: 2025-3-23 00:31 作者: tinnitus 時間: 2025-3-23 01:48 作者: SEVER 時間: 2025-3-23 07:59
Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patous for c.985A>G and mutations other than c.199T>C (group 3) and 3 carried neither c.985A>G nor c.199T>C but other known homozygous mutations (group 4). At screening C8/C2 and C8/C10, at confirmation C8/C2, C8/C10 and C8/C12 differed significantly between patients compound heterozygous for c.199T>C 作者: hyperuricemia 時間: 2025-3-23 12:55
Rhabdomyolysis-Associated Mutations in Human , Lead to Loss of Phosphatidic Acid Phosphohydrolase Ad abnormal subcellular localization. We cloned cDNAs to express recombinant lipin 1 proteins harboring pathogenic mutations and showed that the E766-S838_del allele was not expressed at the RNA or protein level. Lipin 1 p.Leu635Pro was expressed, but the protein was less stable, was aggregated in th作者: CESS 時間: 2025-3-23 16:34
Rebecca C. Ahrens-Nicklas,Esra Serdaroglu,Colleen Muraresku,Can Ficiciogluws our own experience, and even with these selected applications we would appreciate if readers would inform us about overlooked literature. We prove our ignora978-3-519-00279-6978-3-322-91009-7Series ISSN 0233-0911 作者: 關(guān)節(jié)炎 時間: 2025-3-23 21:10 作者: 排出 時間: 2025-3-24 00:33 作者: 無辜 時間: 2025-3-24 05:29
Ozlem Goker-Alpan,Khan Nedd,Suma P. Shankar,Yeong-Hau H. Lien,Neal Weinreb,Anna Wijatyk,Peter Chang,principled model of biotic self-organization and autopoiesis. It has provided insights into biological systems across spatiotemporal scales, ranging from microscales (e.g., sub- and multicellular dynamics), to intermediate scales (e.g., groups of interacting animals and culture), through to macrosca作者: Indolent 時間: 2025-3-24 10:18 作者: appall 時間: 2025-3-24 11:42 作者: paleolithic 時間: 2025-3-24 16:55
Friedrich K. Trefz,Ania C. Muntau,Florian B. Lagler,Flavie Moreau,Jan Alm,Alberto Burlina,Frank Rutst sei ein soziales Ph?nomen und daher nur mit den Sozialwissenschaften zu erfassen. Es bestehen zu dieser stiefmütterlichen Behandlung der modernen Biokriminologie nur wenige Ausnahmen. Nadine Hohlfeld hat unl?ngst mit ihrer Dissertation ?Moderne Kriminalbiologie“ versucht, den aktuellen Stand biokr作者: SSRIS 時間: 2025-3-24 20:42
Loren D. M. Pena,Alan D. Proia,Priya S. Kishnanierview, including computer programs, so that readers can start their own research immediately in this field. The selection of material follows our own experience, and even with these selected applications we would appreciate if readers would inform us about overlooked literature. We prove our ignora作者: BLINK 時間: 2025-3-24 23:22 作者: 無能的人 時間: 2025-3-25 07:24
Lise Aksglaede,Mette Christensen,Jess H. Olesen,Morten Duno,Rikke K. J. Olsen,Brage S. Andresen,Davierview, including computer programs, so that readers can start their own research immediately in this field. The selection of material follows our own experience, and even with these selected applications we would appreciate if readers would inform us about overlooked literature. We prove our ignora作者: capsaicin 時間: 2025-3-25 10:44
Sandra D. K. Kingma,Tom Wagemans,Lodewijk IJlst,Jurgen Seppen,Marion J. J. Gijbels,Frits A. Wijburg,n the macroscopic damage of sandstone,and extended to all hard rock. It revealed the nonlinear dynamic evolution patterns of cracks propagation in the process of sandstone failure using CT parameters. This model provided a new method for predicitng rock dynamic hazard. Compared with the actual test 作者: Motilin 時間: 2025-3-25 15:32
Roberta Biancheri,Eleonora Lamantea,Mariasavina Severino,Daria Diodato,Marina Pedemonte,Denise Cassaguages structures into quite different parts of the design space. Not only does the coevolutionary approach presented here bring the methods of studying linguistic evolution closer to those used in biology, it places the phenomenon of diversity and variability—diversity at the level of differences b作者: 好忠告人 時間: 2025-3-25 18:41
Tuomas Komulainen,Milla-Riikka Hautakangas,Reetta Hinttala,Salla Pakanen,Vesa V?h?sarja,Petri Lehenkassess which elements are associated with genes known to control the development of this trait. In addition, functional genomics can further prioritize diverged genomic regions based on overlap with experimentally determined regulatory elements that are active in tissues relevant for the trait. Furt作者: nominal 時間: 2025-3-25 22:13 作者: 沒花的是打擾 時間: 2025-3-26 02:30 作者: FACET 時間: 2025-3-26 07:27 作者: Carcinogen 時間: 2025-3-26 10:29
Johannes Zschocke,Matthias Baumgartner,Verena PeteUnique collection of case and research reports on rare metabolic disorders.Contains unusual or previously unrecorded features relevant to metabolic disorders.All contributions rigorously peer-reviewed作者: Thyroiditis 時間: 2025-3-26 14:18
JIMD Reportshttp://image.papertrans.cn/j/image/500061.jpg作者: 減少 時間: 2025-3-26 18:05
Book 2015JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.作者: prostatitis 時間: 2025-3-27 00:12
https://doi.org/10.1007/978-3-662-47467-9Mendelian disorder; endocrinology; inherited metabolic diseases; medical genetics; pediatrics; metabolic 作者: 期滿 時間: 2025-3-27 01:33
978-3-662-47466-2SSIEM and Springer-Verlag Berlin Heidelberg 2015作者: ARC 時間: 2025-3-27 08:54 作者: 閃光東本 時間: 2025-3-27 10:00 作者: 任意 時間: 2025-3-27 16:16 作者: cancellous-bone 時間: 2025-3-27 20:22
Ozlem Goker-Alpan,Khan Nedd,Suma P. Shankar,Yeong-Hau H. Lien,Neal Weinreb,Anna Wijatyk,Peter Chang,can help us to understand (and model) biotic self-organization across the many temporal and spatial scales over which life exists. In order to maintain its integrity as a bounded system, any biological system – from single cells to complex organisms and societies – has to limit the disorder or dispe作者: 承認(rèn) 時間: 2025-3-27 22:38 作者: 爭議的蘋果 時間: 2025-3-28 02:39 作者: STEER 時間: 2025-3-28 07:22
Friedrich K. Trefz,Ania C. Muntau,Florian B. Lagler,Flavie Moreau,Jan Alm,Alberto Burlina,Frank Rutsen und Lehrbücher gehen auf biokriminologische Ans?tze oftmals nur in Form eines historischen Abrisses ein oder behandeln sie sehr knapp. Dargestellt werden dabei vor allem die Zwillings- und Adoptionsforschung sowie die XYY-Chromosomenaberration, also Forschungsgebiete, die nach allgemeiner Meinung作者: 廢除 時間: 2025-3-28 10:59 作者: 卡死偷電 時間: 2025-3-28 16:28 作者: Fissure 時間: 2025-3-28 22:47
Lise Aksglaede,Mette Christensen,Jess H. Olesen,Morten Duno,Rikke K. J. Olsen,Brage S. Andresen,Davibombs which could destroy Sao Paulo and Dusseldorf. More recently, (com- putational) statistical physics has been applied to biology, economics, world politics, etc. This book presents some examples in this direction to explain these methods. We do not claim to present a textbook of biology, or a so作者: Commentary 時間: 2025-3-29 02:22
Rebecca C. Ahrens-Nicklas,Esra Serdaroglu,Colleen Muraresku,Can Ficicioglu hydrogen bombs which could destroy Sao Paulo and Dusseldorf. More recently, (com- putational) statistical physics has been applied to biology, economics, world politics, etc. This book presents some examples in this direction to explain these methods. We do not claim to present a textbook of biolog作者: 跟隨 時間: 2025-3-29 05:57
Sandra D. K. Kingma,Tom Wagemans,Lodewijk IJlst,Jurgen Seppen,Marion J. J. Gijbels,Frits A. Wijburg,t explain the macroscopic failure pattern of rock through the process of cracks propagation. A three-dimensional visualization model of cracks was established, which provided a new way to study the transition from microscopic scale to macroscopic scale. Verifying the relationship between the areas a作者: 身心疲憊 時間: 2025-3-29 09:21 作者: 心痛 時間: 2025-3-29 15:28
Tuomas Komulainen,Milla-Riikka Hautakangas,Reetta Hinttala,Salla Pakanen,Vesa V?h?sarja,Petri Lehenkionary theory predicts that morphology largely evolves by changing expression of important developmental genes, finding the underlying regulatory mutations is inherently difficult. Here, we discuss how the integration of comparative and functional genomics has provided valuable insights into the reg作者: ILEUM 時間: 2025-3-29 18:36 作者: 潔凈 時間: 2025-3-29 23:31 作者: Inelasticity 時間: 2025-3-30 00:35 作者: MEET 時間: 2025-3-30 06:16 作者: 過時 時間: 2025-3-30 11:23 作者: 責(zé)問 時間: 2025-3-30 13:22 作者: 審問,審訊 時間: 2025-3-30 19:15
,The Modulatory Effects of the Polymorphisms in , 5′-Untranslated Region Upon Gene Expression Are Cerkable degree of variation with three common single nucleotide polymorphisms at nucleotide positions c.-30G>A, c.-12G>A and c.-10C>T. We have recently identified in young Portuguese stroke patients a fourth polymorphism, at c.-44C>T, co-segregating in . with the c.-12A allele. In vivo, the c.-30A al作者: blight 時間: 2025-3-30 21:37
,The Kuvan? Adult Maternal Paediatric European Registry (KAMPER) Multinational Observational Study: nts aged ≥4 years with hyperphenylalaninaemia (HPA) due to BH.-responsive phenylalanine hydroxylase (PAH) deficiency, in conjunction with a phenylalanine-restricted diet, and also for the treatment of patients with BH. deficiency.../.: KAMPER is an ongoing, observational, multicentre registry with t作者: 自制 時間: 2025-3-31 03:56
Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease, weakness and cardiomyopathy in infants affected with the classic form. Although the primary disease manifestations are due to glycogen accumulation in skeletal and cardiac muscle, glycogen also accumulates in a variety of additional tissues. To improve our understanding of disease pathogenesis in l作者: VEST 時間: 2025-3-31 08:33 作者: Paraplegia 時間: 2025-3-31 10:31
Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA DTD). The plasma concentration of free carnitine was marginally reduced, and the concentrations of acylcarnitines (including C6, C8, and C10:1) were normal on confirmatory tests. Organic acids in urine were normal. In addition, none of the frequent Faroese . mutations (p.N32S, c.825-52G>A) which are 作者: 有斑點 時間: 2025-3-31 16:56 作者: 中子 時間: 2025-3-31 18:20