refsum's syndromeの例文

The syndrome involves defects in the nervous, auditory, skeletal, visual, and endocrine systems and encompasses numerous symptoms, bearing striking similarity to other known syndromes of n......

The symptoms are similar to those of adult Refsum disease and usually appear in the late teens or early twenties. Pipecolic acidemia can also be an associated component of Refsum disease w......

In September 2012, the course was led by Rolf Wallin, Tansy Davies, and Alexander Refsum Jensenius, co-founder of the Oslo Laptop Orchestra.

Infantile Refsum disease can also affect the function of many other organ systems. Infantile Refsum disease is a developmental brain disorder. Mutations in this gene have been associated w......

PEXl(8q21.1)和PEX2(7q21～q22)基因突变导致婴儿型Refsum综合征。

He was married to sculptor Maja Refsum. In 1958 he married painter and writer Kirsti Marianne Nyg錼d-Nilssen, a daughter of Arne Nyg錼d-Nilssen and Maja Refsum.

In Asker, this initiative was spearheaded by Berit 舠, Tove Billington Bye, Marie Borge Refsum and Kari Bjerke Andreassen. On the local level, she was a member of the executive committee of......

Orbital floor syndrome dejean syndrome

These phases expand to " automated teller machine machine ", " human immunodeficiency virus virus ", " personal identification number number ", and " redundant array of independent disks a......

Infantile Refsum disease can also affect the function of many other organ systems. Refsum disease 2 stems from mutations in the peroxin 7 ( PEX7 ) gene. Infantile Refsum disease is a devel......

Infantile Refsum disease can also affect the function of many other organ systems. Refsum disease 2 stems from mutations in the peroxin 7 ( PEX7 ) gene. Infantile Refsum disease is a devel......

These phases expand to " automated teller machine machine ", " human immunodeficiency virus virus ", " personal identification number number ", and " redundant array of independent disks a......

Congenital heart disease is associated with 13q deletion syndrome. Other skeletal malformations are found with 13q deletion syndrome, including syndactyly, clubfoot, clinodactyly, and malf......

There have also been reports of patients with 1p36 deletion syndrome whose parents have a balanced or symmetrical translocation. 1p36 Deletion Syndrome is a congenital genetic disorder cau......

"' 22q11 Deletion Syndrome "'is a rare condition which occurs in approximately 1 in 4000 births. Children with schizophrenia have an increase in genetic deletions or duplication mutations ......

There is disagreement among researchers as to the exact definition of 22q13 deletion syndrome. Table of protein coding genes involved in 22q13 deletion syndrome ( based on Human Genome Bro......

Deletion of GPR35 gene may be responsible for brachydactyly mental retardation syndrome and is mutated in 2q37 monosomy and 2q37 deletion syndrome.

Some immunodeficiency has also been reported in connection with 3C syndrome. It is distinguished from 3C syndrome by differences in facial dysmorphisms. Aortic stenosis and pulmonary steno......

The clinical phenotype of 3q29 microdeletion syndrome is variable. "' 3q29 microdeletion syndrome "'is a rare genetic disorder resulting from the deletion of a segment of chromosome 3.

However, in recent studies, 9q34 deletion syndrome occurs when the EHMT1 gene is non-functioning, as opposed to strictly deletion.

This is referred to as'complex craniosynostosis'and is typically part of a syndrome. Marin argues that apathy should be regarded as a syndrome or illness. It can also be part of a syndrome......

Other genetic syndromes occasionally associated with widow's peaks include Waardenburg syndrome and Aarskog syndrome. Many syndromes are associated with clinodactyly, including Down Syndro......

The condition known as Aase Smith syndrome is named for Smith and colleague Jon Morton Aase.

"' Aase syndrome "'or "'Aase Smith syndrome "'is a rare inherited disorder characterized by anemia with some joint and recessive inherited disorder.

It is not uncommon for a child to develop abandoned child syndrome due to the parents passing. The ones I can understand a little & ndash; Parricide, Abandoned child syndrome, et al . & nd......