作者: 浪蕩子 時間: 2025-3-21 21:21
A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extendingand extending to a large region located distally to it described in a severe Hunter patient, as evidenced by the CNVs databases interrogated. The analysis of the genes involved in the rearrangement and of the disorders correlated with them did not help to clarify the phenotype observed in our patien作者: spinal-stenosis 時間: 2025-3-22 03:48 作者: Kidney-Failure 時間: 2025-3-22 05:01 作者: chlorosis 時間: 2025-3-22 10:15
The Complexity of Newborn Screening Follow-Up in Phenylketonuria,R revealed c.1A>T nucleotide substitution in exon 3 expressed as “p.MET1?” Phenylalanine hydroxylase (PAH) gene sequencing revealed compound heterozygosity for L249F and A300S. Although initial testing suggested the child was affected with DHPR deficiency, further analysis, finding increasing levels作者: 相反放置 時間: 2025-3-22 13:43
Revised Proposal for the Prevention of Low Bone Mass in Patients with Classic Galactosemia,update of the 2007 recommendations. In this current approach, we advise comprehensive dietary evaluation, optimization of calcium intake if needed, monitoring and if necessary supplementation of vitamin D, hormonal status evaluation and hormone replacement therapy (HRT) consideration, as well as a r作者: exophthalmos 時間: 2025-3-22 20:02
m.8993T>G-Associated Leigh Syndrome with Hypocitrullinemia on Newborn Screening,en diagnosed with cerebral palsy, was concurrently diagnosed with neuropathy, ataxia, and retinitis pigmentosa (NARP) due to heteroplasmy of the same mutation. She had progressive muscle weakness, ataxia, and speech dyspraxia. The m.8993T>G mutation causes mitochondrial ATP synthase deficiency and i作者: SOB 時間: 2025-3-23 01:05
Urge Incontinence and Gastrointestinal Symptoms in Adult Patients with Pompe Disease: A Cross-Secti0% of Pompe patients used loperamide daily against diarrhoea. No other gastrointestinal tract-related symptoms were reported to occur more frequently in Pompe patients than in controls...: Compared to age- and gender-matched controls, both urinary and bowel incontinence occur in a higher frequency i作者: 詞匯記憶方法 時間: 2025-3-23 01:36 作者: interference 時間: 2025-3-23 05:54 作者: gustation 時間: 2025-3-23 13:10 作者: capsaicin 時間: 2025-3-23 17:38
Improvement of Cardiomyopathy After High-Fat Diet in Two Siblings with Glycogen Storage Disease Typydrate (15%) diet. After 12?months exertion dyspnea disappeared in the girl and biochemical blood tests, cardiac enzymes, and congestive heart failure markers improved in both (CK 3439→324, 1304→581 U/L; NT-proBNP 2084→206, 782→135?pg/mL, respectively); ultrasound assessment in both patients showed 作者: notion 時間: 2025-3-23 21:31 作者: 固執(zhí)點好 時間: 2025-3-23 23:29 作者: Vital-Signs 時間: 2025-3-24 04:35
D. Karall,G. Mair,U. Albrecht,K. Niedermayr,T. Karall,W. Schobersberger,S. Scholl-Bürgiractions between cost of venom producing, specialized teeth for feeding and possible lack of benefits for venom in larger, stronger mammals may be able to justify the rarity of venom in this group. Both basic science and biotechnology are benefited as more knowledge accumulates about mammalian venom作者: Infantry 時間: 2025-3-24 09:59 作者: BUST 時間: 2025-3-24 11:44 作者: exacerbate 時間: 2025-3-24 18:55 作者: Parley 時間: 2025-3-24 19:17
Leah E. Hecht,Ann E. Wessel,Harvey L. Levy,Gerard T. Berrybined with the concentration of certain key components. The spectral tuning of visual pigment is determined by the type of chromophore present and its interaction with the opsin protein. The amino acid present at key sites within the opsin protein determines spectral tuning; these sites are limited 作者: Perennial長期的 時間: 2025-3-25 00:39 作者: 抗體 時間: 2025-3-25 03:30
Mari Mori,John R. Mytinger,Lisa C. Martin,Dennis Bartholomew,Scott Hickeymitted the characterization of genetic diversity among individuals, populations and species. It did so first, by exposing the relationship between genes and proteins (Lewontin 1974), and second, by elucidating, at the nuclear and extranuclear coding and noncoding DNA regions, the structure, expressi作者: 讓步 時間: 2025-3-25 10:11
Nesrin Karabul,Anika Skudlarek,Janine Berndt,Cornelia Kornblum,Rudolf A. Kley,Stephan Wenninger,Nikomitted the characterization of genetic diversity among individuals, populations and species. It did so first, by exposing the relationship between genes and proteins (Lewontin 1974), and second, by elucidating, at the nuclear and extranuclear coding and noncoding DNA regions, the structure, expressi作者: ODIUM 時間: 2025-3-25 11:58
Hayriye Hizarcioglu-Gulsen,Aysel Yuce,Zuhal Akcoren,Burcu Berberoglu-Ates,Yusuf Aydemir,Erdal Sag,Send Gebauer 1995; Harris 1996; Valdes et al. 1997; Hillman and Colledge 1998; Ladizinsky 1998; Lev-Yadun et al. 2000). Wheat predicated sedentism and was responsible for the increase in the population by enabling humans to produce food in large quantities, thereby contributing to the emergence of hum作者: FLOUR 時間: 2025-3-25 18:16
Annapurna Sudarsanam,Harry Singh,Bridget Wilcken,Michael Stormon,Susan Arbuckle,Bernhard Schmitt,Pet abiotic and biotic ecological diversity and stress, displaying genetic, genome, chromosome, and motif patterns that largely correlate with environmental heterogeneity and stress. These results are inconsistent with the predictions of the neutral (Kimura 1983) and nearly neutral (reviewed in Ohta an作者: inventory 時間: 2025-3-25 23:16
Dong-Hwan Lee,Wen-Juan Qiu,Jeongho Lee,Yin-Hsiu Chien,Wuh-Liang Hwumitted the characterization of genetic diversity among individuals, populations and species. It did so first, by exposing the relationship between genes and proteins (Lewontin 1974), and second, by elucidating, at the nuclear and extranuclear coding and noncoding DNA regions, the structure, expressi作者: EWE 時間: 2025-3-26 00:27
L. van der Tol,David Cassiman,Gunnar Houge,Mirian C. Janssen,Robin H Lachmann,Gabor E Linthorst,Uma e can be used on a larger scale. Molecular biology studies of bread wheat, . (L.) Thell., have received much attention and several RFLP-based maps either for groups of homologous chromosomes (Chao et al. 1989; Devos et al. 1992, 1993; Nelson et al. 1995; Van Deynze et al. 1995; Gill et al. 1996a,b) 作者: 尋找 時間: 2025-3-26 06:29
Celia Atkinson,Isabelle R. Miousse,David Watkins,David S. Rosenblatt,Julian A. J. Raimants and in turn promoted complex forag- ing and plant cultivation. The shift from foraging to steady production led to an incipient agriculture varying in time in various part of the world. In the Levant, agriculture developed out of an intensive specialized ex978-3-642-07512-4978-3-662-07140-3作者: Monotonous 時間: 2025-3-26 09:21 作者: ALIEN 時間: 2025-3-26 12:37
Alessandra Brambilla,Savina Mannarino,Roberta Pretese,Serena Gasperini,Cinzia Galimberti,Rossella Pa作者: 大范圍流行 時間: 2025-3-26 19:38
Johannes Zschocke,K. Michael Gibson,Verena PetersUnique 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: 尾巴 時間: 2025-3-27 00:25
JIMD Reportshttp://image.papertrans.cn/j/image/500055.jpg作者: hermetic 時間: 2025-3-27 04:44 作者: Forage飼料 時間: 2025-3-27 07:20
https://doi.org/10.1007/978-3-662-44578-5Mendelian disorder; endocrinology; inherited metabolic diseases; medical genetics; pediatrics; metabolic 作者: 抒情短詩 時間: 2025-3-27 11:04 作者: Flavouring 時間: 2025-3-27 17:36
JIMD Reports, Volume 17978-3-662-44578-5Series ISSN 2192-8304 Series E-ISSN 2192-8312 作者: fleeting 時間: 2025-3-27 21:19 作者: 緩解 時間: 2025-3-27 22:50
R. M. K. Stewart,M. C. Briggs,J. C. Jarvis,J. A. Gallagher,L. Ranganath sometimes aposematic appearance of coleoid cephalopods (octopuses, cuttlefishes, and squids) are highly suggestive of the widespread use of toxins for predation and/or defense. Many cephalopods use a combination of their parrot-like beak and/or toothed radula to inject venomous saliva, thought to b作者: STALE 時間: 2025-3-28 03:28 作者: 充滿人 時間: 2025-3-28 08:15
Alessandra Zanetti,Rosella Tomanin,Angelica Rampazzo,Chiara Rigon,Nicoletta Gasparotto,Matteo Cassin sometimes aposematic appearance of coleoid cephalopods (octopuses, cuttlefishes, and squids) are highly suggestive of the widespread use of toxins for predation and/or defense. Many cephalopods use a combination of their parrot-like beak and/or toothed radula to inject venomous saliva, thought to b作者: 鉗子 時間: 2025-3-28 10:45 作者: Largess 時間: 2025-3-28 15:50 作者: Blood-Clot 時間: 2025-3-28 20:33
Leah E. Hecht,Ann E. Wessel,Harvey L. Levy,Gerard T. Berryuter segments. Vertebrate visual pigments fall into five classes, a rod pigment that is found in rod photoreceptors that are responsible for dim-light vision and four spectral classes of cone photoreceptors that are responsible for vision in daylight and provide for the sensation of color if two or 作者: hazard 時間: 2025-3-29 02:14 作者: 小爭吵 時間: 2025-3-29 04:40 作者: 開始發(fā)作 時間: 2025-3-29 07:37
Nesrin Karabul,Anika Skudlarek,Janine Berndt,Cornelia Kornblum,Rudolf A. Kley,Stephan Wenninger,Nikon and diversity at the protein and DNA levels. To a large extent this progress has been due to protein electrophoresis and recombinant DNA technology (Nei 1987). Multiple molecular forms of enzymes, called isozymes, recognized in 1959 by Clement Markert, have served as powerful probes of molecular, 作者: violate 時間: 2025-3-29 14:44
Hayriye Hizarcioglu-Gulsen,Aysel Yuce,Zuhal Akcoren,Burcu Berberoglu-Ates,Yusuf Aydemir,Erdal Sag,Se. 1995), followed by rice and corn. It is the most widely cultivated food crop and is the staple food in more than 40 countries and for over 35% of the global population (Williams 1993). The earliest present evidence for the utilization of wheat comes from the Ohalo II site in Israel, where the wild作者: 高腳酒杯 時間: 2025-3-29 15:38 作者: 貪婪地吃 時間: 2025-3-29 22:19
Dong-Hwan Lee,Wen-Juan Qiu,Jeongho Lee,Yin-Hsiu Chien,Wuh-Liang Hwun and diversity at the protein and DNA levels. To a large extent this progress has been due to protein electrophoresis and recombinant DNA technology (Nei 1987). Multiple molecular forms of enzymes, called isozymes, recognized in 1959 by Clement Markert, have served as powerful probes of molecular, 作者: NOT 時間: 2025-3-30 01:24 作者: Chipmunk 時間: 2025-3-30 04:34
L. van der Tol,David Cassiman,Gunnar Houge,Mirian C. Janssen,Robin H Lachmann,Gabor E Linthorst,Uma n, and evolutionary studies, as well as in improved selection activities (Tanksley and Orton 1983; Paterson et al. 1991; O’Brien 1993; Whitkus et al. 1994; Blanco et a1.1998). Molecular markers can provide a spectacular improvement in the efficiency and sophistication of plant breeding. It is now ge作者: intrigue 時間: 2025-3-30 09:46
Reversible Keratopathy Due to Hypertyrosinaemia Following Intermittent Low-Dose Nitisinone in Alkap. His vision became impaired approximately 7?weeks following the commencement of nitisinone and ophthalmological examination at week nine showed characteristic dendritic keratopathy associated with tyrosinaemia. The corneal lesion as well as his visual symptoms normalized completely following discon作者: NEG 時間: 2025-3-30 14:07 作者: 佛刊 時間: 2025-3-30 19:09
A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending, an enzyme involved in the glycosaminoglycans (GAGs) degradation. We here report the case of a 9-year-old boy who was diagnosed with an extremely severe form of MPS II at 10 months of age. Sequencing of the . gene revealed the deletion of exons 1–7, extending distally and removing the entire pseudo
