作者: propose 時(shí)間: 2025-3-22 00:10 作者: Silent-Ischemia 時(shí)間: 2025-3-22 03:50 作者: ordain 時(shí)間: 2025-3-22 06:50
Jyotsna Verma,Divya C. Thomas,David C. Kasper,Sandeepika Sharma,Ratna D. Puri,Sunita Bijarnia-Mahay,that they are up to the challenges of modeling essentially any population genetic phenomenon that can be envisioned. Until recently, one of the major constraints in our attempts to understand the mechanisms by which populations evolve has been the inaccessibility of the gene. Advances in molecular t作者: 出價(jià) 時(shí)間: 2025-3-22 10:44 作者: PURG 時(shí)間: 2025-3-22 13:36
Andrew Talbot,Gary Hammerschlag,Jeremy Goldin,Kathy Nichollss rise to a challenging set of problems in evolutionary Biology. In order to understand adaptive evolution, it appears to be essential to first understand how genotypes give rise to observed phenotypes, or more precisely, how variation in phenotypes is mediated by underlying variation in genotypes. 作者: abduction 時(shí)間: 2025-3-22 20:08 作者: Gustatory 時(shí)間: 2025-3-23 00:40 作者: invulnerable 時(shí)間: 2025-3-23 02:36
Natascia Anastasio,Maja Tarailo-Graovac,Reem Al-Khalifah,Laurent Legault,Britt Drogemoller,Colin J.Dle of yielding the nucleotide sequence of complete genomes of viruses and bacteria within a few days, or even hours. These methods are replacing previous molecular techniques which have been used for the past 30 years, although many of them are still the usual approach for many such investigations. 作者: 顯示 時(shí)間: 2025-3-23 07:56
Irene De Biase,Krista S. Viau,Aiping Liu,Tatiana Yuzyuk,Lorenzo D. Botto,Marzia Pasquali,Nicola Longter eSSD; females at least twice male size) in two model spider clades, Nephilidae and Argiopinae. Although these two clades exhibit comparable levels of eSSD, we show that the phenomenon takes different evolutionary pathways. In nephilids, no correlation between male and female size changes is dete作者: aggravate 時(shí)間: 2025-3-23 10:52
Lance H. Rodan,Gerard T. Berryist theses that have been distinguished in the philosophical debate on adaptationism. Our aim is to defend a weak form of empirical adaptationism according to which a majority of phenotypic traits at the organismal level are fixed by natural selection. Sarkar . indicates a possible puzzle for this v作者: 駕駛 時(shí)間: 2025-3-23 13:53 作者: 休戰(zhàn) 時(shí)間: 2025-3-23 20:05 作者: 屈尊 時(shí)間: 2025-3-24 00:15
Anne-Els van de Logt,Leo A. J. Kluijtmans,Marleen C. D. G. Huigen,Mirian C. H. Janssenues as de Rooij (1915) that base the “synopsis of families” principally on the tongue, and by the “-gjossa” names for higher groups of lizards in the older literature (e.g., Pachyglossa, Leptoglossa, Thecaglossa, Diploglossa, all used by Cope, 1900, but taken by him from earlier authors). I can find作者: 下級(jí) 時(shí)間: 2025-3-24 04:19
Ivo Bari?,Sahin Erdol,Halil Saglam,Mila Lovri?,Robert Belu?i?,Oliver Vugrek,Henk J. Blom,Ksenija Fummany evolutionary biologists. There is, however, a ferment in the behavioral sciences. Any temptation to invoke Samuel Johnson’s simile of a woman’s preaching and a dog’s walking on its hind legs, followed by his comment—“It is not done well; but you are surprised to find it done at all.”—might be s作者: 愉快么 時(shí)間: 2025-3-24 09:36
Irina Anselm,Morgan MacCuaig,Sanjay B. Prabhu,Gerard T. Berrymany evolutionary biologists. There is, however, a ferment in the behavioral sciences. Any temptation to invoke Samuel Johnson’s simile of a woman’s preaching and a dog’s walking on its hind legs, followed by his comment—“It is not done well; but you are surprised to find it done at all.”—might be s作者: Astigmatism 時(shí)間: 2025-3-24 12:50 作者: fetter 時(shí)間: 2025-3-24 15:50 作者: 裂口 時(shí)間: 2025-3-24 21:07
Switch from Sodium Phenylbutyrate to Glycerol Phenylbutyrate Improved Metabolic Stability in an Adoemented with essential amino acids, .-citrulline, and .-arginine as well as sodium benzoate. He had an extensive history of hospitalizations for hyperammonemic crises throughout childhood and early adolescence, which continued after the addition of sodium phenylbutyrate in 2009. In December 2013 he 作者: SEED 時(shí)間: 2025-3-25 01:07
Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of disorders (LSDs) in developing countries. Therefore, there is a major unmet need for accurate and economical diagnostic tests to facilitate diagnosis and consideration of therapies before irreversible complications occur. In cross-country study, we utilized dried blood spots (DBS) of 1,033 patients 作者: commute 時(shí)間: 2025-3-25 06:23 作者: 無節(jié)奏 時(shí)間: 2025-3-25 09:34
Sleep Disturbance, Obstructive Sleep Apnoea and Abnormal Periodic Leg Movements: Very Common Proble, an X-linked lysosomal storage disease caused by deficiency in α-galactosidase, results in intracellular accumulation of globotriaosylceramide. It causes organ dysfunction, most significantly affecting renal, cerebrovascular and cardiovascular systems. Respiratory involvement may include obstructiv作者: Asperity 時(shí)間: 2025-3-25 15:01
Spurious Elevation of Multiple Urine Amino Acids by Ion-Exchange Chromatography in Patients with Pris enzyme leads to accumulation of these dipeptides, which correspondingly are found to be elevated in urine. In fact, the absence of dipeptiduria is sufficient to rule out a diagnosis of prolidase deficiency. However, given the fact that these dipeptides elute at the same position as more common am作者: landmark 時(shí)間: 2025-3-25 17:30
Quick Diagnosis of Alkaptonuria by Homogentisic Acid Determination in Urine Paper Spots,or quick early diagnosis. AKU is a rare autosomal recessive disorder caused by deficiency of homogentisate 1,2-dioxygenase, yielding in accumulation of HGA. Its massive excretion causes urine darkening by exposure to air or alkalinization, and is a diagnostic marker. The deposition of polymers produ作者: Enthralling 時(shí)間: 2025-3-25 20:17
Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetedosis, hyperlactatemia, hyperammonemia, and insulin-responsive hyperglycemia. Initial metabolic work-up suggested mitochondrial dysfunction. Given our patient’s unusual presentation, whole-exome sequencing (WES) was performed on the parent–offspring trio. The patient was homozygous for the c.643C>T 作者: 權(quán)宜之計(jì) 時(shí)間: 2025-3-26 00:29
Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Lonation and presents with hypoglycemia, cardiac, liver, eye, and muscle involvement. Without treatment, both conditions can be life-threatening. These diseases are identified by newborn screening (NBS), but the impact of early treatment on long-term clinical outcome is unknown. Moreover, there is lack作者: 小步走路 時(shí)間: 2025-3-26 06:23
,-Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associateathy progressing to cirrhosis, nephropathy, connective tissue abnormalities resembling cutis laxa, coagulopathy, cytopenias, and increased risk of hepatocellular carcinoma. In many cases, death occurs in infancy or early childhood. There is no established treatment for transaldolase deficiency in hu作者: explicit 時(shí)間: 2025-3-26 11:02
Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease:se (GSD), Danon disease, infantile-onset Pompe disease (GSD II), GSD III, GSD IV, and phosphofructokinase deficiency (Tarui disease or GSD VII)..We present a 35-year-old female who presented with cardiomyopathy after a pregnancy complicated by primary hyperparathyroidism. She had enjoyed excellent h作者: 偽證 時(shí)間: 2025-3-26 15:43
Chronic Diarrhea in ,-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Amonsynthesis. Cardinal signs consist in psychomotor delay, hypotonia, oculogyric crises, dystonia, and extraneurological symptoms... We present a retrospective descriptive multicentric study concerning ten French children with a biochemical and molecular confirmed diagnosis of AADC deficiency... Clinic作者: 反抗者 時(shí)間: 2025-3-26 17:42 作者: maverick 時(shí)間: 2025-3-26 23:15
Glycine ,-Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders?,ermanent hypermethioninemia. This disorder has been considered as probably benign because moderate hepatomegaly in two patients was the only obvious symptom and mild to moderate elevation of aminotransferases the only laboratory abnormality. Our experience with the current novel patient points out t作者: brassy 時(shí)間: 2025-3-27 05:12
Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency,ay and intractable seizures consistent with previous reports of SLC13A5 transporter deficiency. Both had two mutations in the . gene, c.655G>A (G219R) and the novel mutation c.245A>G (Y82C). However, the phenotypes were not identical as the female had focal cortical dysplasia that led to brain surge作者: altruism 時(shí)間: 2025-3-27 07:56 作者: 值得 時(shí)間: 2025-3-27 11:25 作者: Vital-Signs 時(shí)間: 2025-3-27 15:54
978-3-662-54118-0SSIEM and Springer-Verlag Berlin Heidelberg 2017作者: 提名 時(shí)間: 2025-3-27 20:06
JIMD Reports, Volume 31978-3-662-54119-7Series ISSN 2192-8304 Series E-ISSN 2192-8312 作者: 攝取 時(shí)間: 2025-3-28 00:35 作者: 充氣球 時(shí)間: 2025-3-28 06:02
JIMD Reportshttp://image.papertrans.cn/j/image/500069.jpg作者: Incorruptible 時(shí)間: 2025-3-28 07:56 作者: extinct 時(shí)間: 2025-3-28 10:56
Switch from Sodium Phenylbutyrate to Glycerol Phenylbutyrate Improved Metabolic Stability in an Adoammonemic crises throughout childhood and early adolescence, which continued after the addition of sodium phenylbutyrate in 2009. In December 2013 he was switched to glycerol phenylbutyrate, and his metabolic stability was greatly improved over the following 7 months prior to liver transplant.作者: chapel 時(shí)間: 2025-3-28 18:29 作者: 石墨 時(shí)間: 2025-3-28 19:31
2192-8304 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.978-3-662-54118-0978-3-662-54119-7Series ISSN 2192-8304 Series E-ISSN 2192-8312 作者: dilute 時(shí)間: 2025-3-29 01:22 作者: Substance-Abuse 時(shí)間: 2025-3-29 03:34 作者: 膠狀 時(shí)間: 2025-3-29 08:49
Erratum to: Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency,作者: 間諜活動(dòng) 時(shí)間: 2025-3-29 14:49 作者: defray 時(shí)間: 2025-3-29 18:15
Nina A. Zeltner,Markus A. Landolt,Matthias R. Baumgartner,Sarah Lageder,Julia Quitmann,Rachel Sommer been remarkably difficult to analyze genetically. The focus of this chapter is on the question, “What are the barriers to our understanding of the genetic basis for familiar clustering of chronic diseases?” We will focus on medical genetics rather than the more general problem of genotype-phenotype作者: 業(yè)余愛好者 時(shí)間: 2025-3-29 19:53 作者: 壯觀的游行 時(shí)間: 2025-3-30 01:48 作者: 俗艷 時(shí)間: 2025-3-30 07:20
Amy Brown,Louise Crowe,Avihu Boneh,Vicki Andersoniven by drift, with selection playing primarily a constraint role, eliminating strongly deleterious mutations, and only rarely playing a creative role in adaptive change (in relative terms compared to the total number of nucleotides in the genome) (Kimura, 1983). Largely because of the ease of alloz作者: 厭惡 時(shí)間: 2025-3-30 09:31
Andrew Talbot,Gary Hammerschlag,Jeremy Goldin,Kathy Nicholls been remarkably difficult to analyze genetically. The focus of this chapter is on the question, “What are the barriers to our understanding of the genetic basis for familiar clustering of chronic diseases?” We will focus on medical genetics rather than the more general problem of genotype-phenotype作者: 小畫像 時(shí)間: 2025-3-30 16:05 作者: Paraplegia 時(shí)間: 2025-3-30 20:22 作者: GEON 時(shí)間: 2025-3-31 00:13
Natascia Anastasio,Maja Tarailo-Graovac,Reem Al-Khalifah,Laurent Legault,Britt Drogemoller,Colin J.Dnges for the interpretation of the resulting data. We analyze some of these new challenges, especially those in which the short term evolution of microorganism plays an important role in understanding and interpreting the results and, quite often, in reconciling them with those derived from classica作者: 窗簾等 時(shí)間: 2025-3-31 01:40
Irene De Biase,Krista S. Viau,Aiping Liu,Tatiana Yuzyuk,Lorenzo D. Botto,Marzia Pasquali,Nicola Longntrast, no directional trends can be detected in argiopines with Brownian motion as the best-fit model. Finally, phylogenetic allometric analyses reveal no relationships between male and female sizes in nephilids, while argiopine size evolution is isometric. The sole agreement between the clades see作者: overweight 時(shí)間: 2025-3-31 07:41 作者: Osteons 時(shí)間: 2025-3-31 10:39
Mari Mori,Lauren A. Bailey,Januario Estrada,Catherine W. Rehder,Jennifer S. Li,Joseph G. Rogers,Deekty easier, and growth in control complexity itself then drives a requirement for mitochondria and increased energy production. I conclude that, given ‘default off’ genetics, complex life is highly likely to evolve. The paths to the evolution of ‘default off’ genetics remain to be explored.作者: 憤慨點(diǎn)吧 時(shí)間: 2025-3-31 14:36
M. A. Spitz,M. A. Nguyen,S. Roche,B. Heron,M. Milh,P. de Lonlay,L. Lion-Fran?ois,H. Testard,S. Napurpresent positions. Furthermore, many authorities have envisaged a still larger land mass, Pangaea, embracing both Gondwanaland and Laurasia.) According to most students of the problem, Gondwanaland and Laurasia (or Pangaea) are supposed to have existed during at least the latter part of the Paleozoi作者: CRUE 時(shí)間: 2025-3-31 19:50
Anne-Els van de Logt,Leo A. J. Kluijtmans,Marleen C. D. G. Huigen,Mirian C. H. Janssenenosauridae, Anniellidae, Helodermatidae, and Varani-dae, in spite of a very different tongue; but McDowell and Bogert (1954) and Underwood (1957) showed that the Pygopodidae are most closely related to the Gekkonidae, with which they agree in tongue structure as well as many other features.作者: companion 時(shí)間: 2025-4-1 01:21
