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A SMN missense mutation complements SMN2 restoring snRNPs
A SMN missense mutation complements SMN2 restoring snRNPs

... lines had SMN RNA transcript expression in spinal cord, forebrain and liver (Fig. 2A bottom). Line 1951 appeared to have the highest mRNA transcript levels in spinal cord (Fig. 2A bottom). However, quantitative analysis of total human SMN RNA by real-time RT– PCR indicated that SMN(VDQNQKE) had a ne ...
Corneal dystrophies | Orphanet Journal of Rare Diseases | Full Text
Corneal dystrophies | Orphanet Journal of Rare Diseases | Full Text

... affect primarily the corneal epithelium and its basement membrane or Bowman layer and the superficial corneal stroma (anterior corneal dystrophies), the corneal stroma (stromal corneal dystrophies), or Descemet membrane and the corneal endothelium (posterior corneal dystrophies). Most corneal dystro ...
Inherited epidermolysis bullosa - zum EB
Inherited epidermolysis bullosa - zum EB

... location of specific proteins pertinent to the pathogenesis of epidermolysis bullosa (EB), and the level in which blisters develop in different EB types. The scheme depicts the cell layers of the epidermis, the basal keratinocytes, and above them the suprabasal keratinocyte layers (spinous and granu ...
THE GENETICS OF CURLY WING IN DROSOPHILA. ANOTHER
THE GENETICS OF CURLY WING IN DROSOPHILA. ANOTHER

... are found t o be equallydistributedbetweencurlyand same holds true in a cross of a curly maleand an “Xple”2female; that is, a female which is homozygous for the first-chromosome characters, scute, echinus, cut, vermilion, garnet and forked. Here also the curly is found to be present in half of the F ...
Teeth Common Concerns FTNW
Teeth Common Concerns FTNW

... 1 to 3 people in every 100 have an extra adult tooth. An extra first tooth is not so common. Extra adult teeth are more common in men than women. Extra teeth are more common in people with a cleft palate. Generally speaking, more than 90 per cent of extra teeth are in the upper jaw, and most commonl ...
Mutations affecting development of the notochord in zebrafish
Mutations affecting development of the notochord in zebrafish

gemini Documentation
gemini Documentation

How to Model Microevolution How to Model Microevolution
How to Model Microevolution How to Model Microevolution

... How to Model Microevolution In order to specify how gametes are produced, we have to specify the genetic architecture. Genetic architecture refers to the number of loci and their genomic positions, the number of alleles per locus, the mutation rates, and the mode and rules of inheritance of the gene ...
The monogenic primary dystonias
The monogenic primary dystonias

... syndromes are monogenic dystonias without detectable neuroanatomical abnormalities but with additional neurological manifestations such as myoclonus and parkinsonism (Albanese et al., 2006). A third group includes paroxysmal dyskinesias with episodes of dystonic involvement and no gross neuropatholo ...
GENETICS Lois E Brenneman, MSN, ANP, FNP, C Historical
GENETICS Lois E Brenneman, MSN, ANP, FNP, C Historical

The KetelD Dominant-Negative Mutations Identify
The KetelD Dominant-Negative Mutations Identify

... intriguing biological phenomena and raises questions about the origin and function of factors required for the initiation of a new life. What are those factors? Where and how are they made? What are their functions? It has long been known that most of the factors that are required during early embry ...
The Genetics of Migraine
The Genetics of Migraine

... among individuals belonging to different families but also within the same family.13,15,16 Besides familial cases, some sporadic cases of hemiplegic migraine with cerebellar symptoms have also been reported.16,27 Whether FHM has the same pathophysiological mechanisms as other types of migraine with ...
The glandular aspects of the tabby syndrome in the
The glandular aspects of the tabby syndrome in the

... develop more slowly than normal. (2) The exorbital lacrimalgland. The duct of this gland opens laterally into the conjunctiva of the lower eyelid; the gland itself is situated subcutaneously in front of and below the ear. The duct arises in the 14-day embryo and starts branching to form the gland in ...
Polyploidy
Polyploidy

Polyploidy
Polyploidy

... • Understand the differences between ‘Interference’, and the suppression of recombination resulting from inversions, • Be able to recognize data, and predict results given either case. ...
Haemophilia (2013) - Haemophilia Foundation Australia
Haemophilia (2013) - Haemophilia Foundation Australia

... disorder where blood doesn’t clot properly. It is caused when blood does not have enough clotting factor. A clotting factor is a protein in blood that controls bleeding. There are two types of haemophilia. Both have the same symptoms. Haemophilia A is the most common form and is caused by having red ...
Effete, a Drosophila chromatin-associated ubiquitin
Effete, a Drosophila chromatin-associated ubiquitin

... among the polypeptides that co-precipitate with HOAP and shown to prevent TFs in S2 cultured cells (Gao et al. 2010). HOAP, Moi, Ver and HipHop are non-conserved fast-evolving proteins that localize and function only at telomeres. These proteins form a capping complex we call terminin, which is func ...
NF1 Gene Test Review - The Friedman Lab at UBC
NF1 Gene Test Review - The Friedman Lab at UBC

Asymmetries in Retrieval of Gene Function Information
Asymmetries in Retrieval of Gene Function Information

... The SI field identifies secondary source databanks and accession numbers of outside resources discussed in MEDLINE articles. The field is composed of the source followed by a slash followed by an accession number and can be searched with one or both components, e.g., genbank [si], AF001892 ...
Sarah Hartwell - Polydactyl Cats: Messybeast
Sarah Hartwell - Polydactyl Cats: Messybeast

... apical cap is larger than normal, extra toes will develop from it. It is worth noting that physical damage to the apical cap might also trigger the development of extra toes. Branching of the apical cap will lead to complete double paws or, if it branches early enough, to doubled limbs. The first m ...
IOSR Journal of Dental and Medical Sciences (IOSR-JDMS)
IOSR Journal of Dental and Medical Sciences (IOSR-JDMS)

... features in these children include an enlarged anterior fontanel, dislocation of the hips that is present at birth, hernias, and nearsightedness. Many individuals with this condition have severe developmental delay and seizures. Wrinkly Skin Syndrome, which causes wrinkled skin, small head size, and ...
GENETIC AND MOLECULAR ANALYSIS OF THE garnet EYE
GENETIC AND MOLECULAR ANALYSIS OF THE garnet EYE

... inspiration, emotional, intellectual and financial, over the many years that this work was in progress. Nevertheless, those who have helped me know who they are. They have my gratitude, and I hope, will allow me to opportunity to reciprocate. Although any work of science depends on the prior work of ...
oto`s role in head and trunk development
oto`s role in head and trunk development

... visceral endoderm, in the form of restricted expression of genes such as Lim1 and Hex, precedes discernible pattern in the overlying epiblast by at least 12 hours (reviewed in Beddington and Robertson, 1998, 1999). More recently a specific role for the AVE of the pregastrula mouse embryo in patterni ...
hermann joseph muller 1890—1967
hermann joseph muller 1890—1967

... hoped to join the faculty there but Wilson felt it would not work out if Morgan came back, which he did for a few years before leaving to head and develop the new Department of Biology at California Institute of Technology. While at Columbia (1919-1921), Muller published several theoretical papers t ...
Hermann Joseph Muller - National Academy of Sciences
Hermann Joseph Muller - National Academy of Sciences

... hoped to join the faculty there but Wilson felt it would not work out if Morgan came back, which he did for a few years before leaving to head and develop the new Department of Biology at California Institute of Technology. While at Columbia (1919-1921), Muller published several theoretical papers t ...
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Saethre–Chotzen syndrome



Saethre–Chotzen syndrome (SCS), also known as Acrocephalosyndactyly type III is a rare congenital disorder associated with craniosynostosis (premature closure of one or more of the sutures between the bones of the skull). This affects the shape of the head and face, resulting in a cone-shaped head and an asymmetrical face. Individuals with SCS also have droopy eyelids (ptosis), widely spaced eyes (hypertelorism), and minor birth defects of the hands and feet (syndactyly). In addition, individuals with more severe cases of SCS may have mild to moderate mental retardation or learning disabilities. Depending on the level of severity, some individuals with SCS may require some form of medical or surgical intervention. Most individuals with SCS live fairly normal lives, regardless of whether medical treatment is needed or not.
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