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Correction to "TRIM25 mutation (p.C168*), coding for an E3 ubiquitin ligase, is a cause of early-onset autosomal dominant dementia with amyloid load and Parkinsonism." [PDF]

Alzheimers Dement
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Autosomal Dominant Osteopetrosis

SSRN Electronic Journal, 2022
Autosomal dominant osteopetrosis (ADO) is the most common form of osteopetrosis. ADO is characterized by generalized osteosclerosis along with characteristic radiographic features such as a "bone-in-bone" appearance of long bones and sclerosis of the superior and inferior vertebral body endplates.
Polgreen, Lynda E., Imel, Erik A., Econs, Michael J.   +2 more
openaire   +5 more sources

Autosomal dominant erythromelalgia [PDF]

American Journal of Medical Genetics, 1992
AbstractWe present a kindred of 29 persons affected with erythromelalgia (erythermalgia) in 5 generations. This paper updates the family reported by Burbank et al. [1966]. Patients have symptoms of intermittent intense burning limb pain related to increased skin temperature.
J. R. Lindsey, Jo-David Fine, G. A. Dixon, M. K. Burbank, Wayne H. Finley   +4 more
openaire   +2 more sources

AUTOSOMAL DOMINANT VITREORETINOCHOROIDOPATHY

Retina, 1997
Autosomal dominant vitreoretinochoroidopathy recently has been described as a condition characterized by peripheral chorioretinal atrophy and areas of hypopigmentation and hyperpigmentation between the equator and the ora serrata circumferentially in the ocular fundus.
Johann Roider, Horst Laqua, Erdmann Fritsch, Hans Hoerauf, Wolfgang Heide   +4 more
openaire   +3 more sources