more Congenital myasthenic syndromes are a group of genetically determined rare diseases resulting from ultrastructural alterations in synaptic proteins.
The writer provides concluding remarks that show analysis and synthesis of ideas. Paper flows from one issue to the next without the need for headings.
Author's writing demonstrates an understanding of the relationship among material obtained from all sources.
Graphics do not relate to the topic and/or do not have citations.
Occurance in the population and, if applicable, occurance more in one group than another described.
A full term infant presented with acute respiratory failure and generalized weakness.
Thesis Papers On The Crucible - Genetic Disorder Research Paper Rubric
The genetic analysis revealed the patient to be compound heterozygous for a new mutation of the SCL5A7 gene.
We found several non-homologous human genes containing similar motifs of eight to 10 HX repeat sequences, including RERE, where disruptive variants in this motif have also been linked to a separate condition that causes neurocognitive and congenital anomalies.
These findings suggest that perturbation of the HX motif might explain other Mendelian human conditions.
All graphics relate to the topic and have a source citation All graphics are related to the topic. Inappropriate colors and font creating difficulty in legibility. Mechanics 2 Little or no grammatical and/or spelling errors, text in author’s own words. Few grammatical and/or spelling errors, most of text in author’s own words. Several grammatical and/or spelling errors, text not in author’s own words. Many grammatical and/or spelling errors, text in author’s own words. Project Research (maximum 65 points) Area Excellent (5) Good (4-3) Fair (2-1) Poor (0) Disease/ Disorder Description 2 Completely described including general description of disease/ disorder. No general description and discussion of occurance.
Overall Design 2 Overall design of project is consistent. Type size, font style, colors and graphics only have some variation.