Results 71 to 80 of about 4,320,960 (307)
Early-Onset Epileptic Encephalopathy with Phospholipase C Beta 1 Deficiency
Pediatric Neurology Briefs, 2010 The clinical presentation and evolution of epileptic encephalopathy associated with a loss-of-function mutation in the phospholipase C-b 1 gene are reported in a male infant with infantile spasms treated at the University of Birmingham School of Medicine,
J Gordon Millichap
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Genetic Heterogencity of Collagens.
Journal of Investigative Dermatology, 1982 The term collagen has recently been expanded to include at least 7 genetically distinct structural elements of mammalian connective tissues. It is assumed that differences in the primary structure specify the interactions of these different collagens with one another and with noncollagen connective tissue elements. The specific biomechanical properties
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Genetic heterogeneity in multiple myeloma [PDF]
Leukemia, 2004 In the past decade, many progresses have been made in our knowledge of the genetics of multiple myeloma. The use of molecular cytogenetic techniques has led to the identification of several recurrent (cyto)genetic abnormalities, representing either prognostic markers, or novel therapeutic targets.
F, Magrangeas +4 more
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FEBS Letters, EarlyView.Plasma membranes contain dynamic nanoscale domains that organize lipids and receptors. Because viruses operate at similar scales, this architecture shapes early infection steps, including attachment, receptor engagement, and entry. Using influenza A virus and HIV‐1 as examples, we highlight how receptor nanoclusters, multivalent glycan interactions ...
Jan Schlegel, Christian Sieben
wiley +1 more source
Терапевтический архив, 2014 The paper gives an update on orphan (rare) hereditary and congenital diseases and their definitions and considers approaches to estimating their incidence and prevalence and the existing problems of their diagnosis and treatment in the world and our ...
P V Novikov
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Nature Communications, 2017 Non-syndromic cleft lip with palate (NSCLP) is the most serious sub-phenotype of non-syndromic orofacial clefts (NSOFC), which are the most common craniofacial birth defects in humans.
Yanqin Yu +29 more
semanticscholar +1 more source
The human gut microbiome across the life course
FEBS Letters, EarlyView.Despite significant individual variation and continuous change throughout life, the human gut microbiome follows some life stage‐specific trends. This article provides a brief overview of how gut microbiome composition shifts across different phases of life. Created in BioRender. Özkurt, E. (2026) https://BioRender.com/8q4nrnc.
Alise J. Ponsero +4 more
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Dystonic hyperkinesias in children of early childhood
Анналы клинической и экспериментальной неврологии, 2017 Dystonic hyperkinesias in children of early childhood may beinvolved in the structure of many syndromes that have differentetiological factors, prognosis, and treatment.
M. Yu. Bobylova +7 more
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From mice to humans—divergent strategies for intestinal homeostasis and regeneration
FEBS Letters, EarlyView.Recent advances such as organoid genome editing, xenotransplantation, imaging, and whole‐genome sequencing have enabled direct studies of human intestinal stem cells (ISCs). These studies reveal species‐specific features, including slower ISC proliferation, distinct injury responses, slower somatic mutation accumulation in humans, and an inverse ...
Keiko Ishikawa +2 more
wiley +1 more source
Revista Habanera de Ciencias Médicas, 2011 El Tumor de Wilms constituye el más frecuente de los cánceres renales pediátricos, aparece antes de los 5 años de edad y con igual frecuencia en ambos sexos.
Rolando A Hernández Fernández
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