Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1996 | 1 |
1998 | 1 |
2011 | 1 |
2024 | 0 |
Search Results
3 results
Results by year
Filters applied: . Clear all
Page 1
Uniparental disomies 7 and 14.
Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):77-100. doi: 10.1016/j.beem.2010.09.004.
Best Pract Res Clin Endocrinol Metab. 2011.
PMID: 21396576
Review.
The consequences of UPD depend on the specific chromosome/segment involved and its parental origin. Phenotypes range from unapparent to unmasking of an autosomal-recessive disease to presentation as a syndromic imprinting disorder. ...
The consequences of UPD depend on the specific chromosome/segment involved and its parental origin. Phenotypes range from unapparent to unma …
Update on Sjögren-Larsson syndrome.
Lacour M.
Lacour M.
Dermatology. 1996;193(2):77-82. doi: 10.1159/000246217.
Dermatology. 1996.
PMID: 8884139
Review.
Sjogren-Larsson syndrome (SLS, MIM 270200) is a rare autosomal recessive neurocutaneous disorder due to a deficiency of the fatty aldehyde dehydrogenase and defined by a characteristic triad of symptoms including congenital ichthyosis, spastic di- or quadripl …
Sjogren-Larsson syndrome (SLS, MIM 270200) is a rare autosomal recessive neurocutaneous disorder due to a deficiency of …
Item in Clipboard
Vertical transmission of the Ohdo blepharophimosis syndrome.
Mhanni AA, Dawson AJ, Chudley AE.
Mhanni AA, et al.
Am J Med Genet. 1998 May 1;77(2):144-8.
Am J Med Genet. 1998.
PMID: 9605288
Review.
Previously reported cases of OBS have been sporadic except for the report by Ohdo et al. [1986, J Med Genet 23:242-244] that described two affected sisters and a first cousin favoring autosomal recessive inheritance. The original report by Ohdo et al. [1986] may ref …
Previously reported cases of OBS have been sporadic except for the report by Ohdo et al. [1986, J Med Genet 23:242-244] that described two a …
Item in Clipboard
Cite
Cite