Both autosomal dominant and recessive inheritance is seen. There is no consistent seizure type associated with HSP and myoclonic, simple partial ... 101 Although most SPG4 pedigrees have pure HSP, ...
Most of diseases known in medical genetics are autosomal ... pedigrees with an outstandingly high occurrence of particular cancer type. Rapidly increasing accessibility of comprehensive genomic ...
You may have heard that eating complex carbs is better than simple carbs. But nutrition labels don’t always tell you if the carbohydrate content is simple or complex. Complex carbohydrates are ...
For stallions that stand, will stand, or stood (deceased/pensioned) in the selected region and have runners in North America. Exported sires are excluded. Listed below are all available Northern ...
Justin Jaffe is the Managing Editor for CNET Money. He has more than 20 years of experience publishing books, articles and research on finance and technology for Wired, IDC and others. He is the ...
Allgrove or 4 “A” syndrome: an autosomal recessive syndrome causing multisystem neurological disease
Allgrove’s or “4 A” syndrome is a rare autosomal recessive condition with alacrima, achalasia, autonomic disturbance, and ACTH insensitivity among other features. Recent studies have identified ...
Studies were excluded if they (1) were identified to be unrelated to DCM, (2) described in vitro functional studies, (3) included pediatric, syndromic, X-linked, mitochondrial, or autosomal recessive ...
This heterogeneity makes many gene-specific types of NSHL exceedingly rare. We sought to define the spectrum of autosomal recessive HHL in Iran by investigating both common and rarely diagnosed ...
1 Department of Pathology, Brigham and Women’s Hospital, Boston, Massachusetts, USA 2 Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA 3 Harvard Medical School, ...
The Chanarin–Dorfman syndrome (CDS) is a rare, autosomal recessively inherited genetic disease ... Her son was 1 year old and was normal (Figure 1). FIGURE 1. Pedigree of the CDS family. Arrows show ...
Some results have been hidden because they may be inaccessible to you
Show inaccessible results