Results 211 to 220 of about 379,319 (247)

Relationship between bone mineral density and strength derived from 3D-shaper and HR-pQCT in patients with X-linked osteoporosis related to PLS3. [PDF]

Arch Osteoporos
Zervou Z, Mabrouk R, van Velsen EFS, Bevers MSAM, Alizadeh E, van den Bergh JP, Zillikens MC.   +6 more
europepmc   +1 more source

The socioeconomic impact of inherited retinal dystrophies (IRDs) in Belgium: A cost-of-illness study. [PDF]

PLoS One
Vandersmissen I, Geers J, Denee T, Oinasmaa S, Hoeben D, Zhang X, Aydin B, Cheung S, Billiet L, Joniau I, Daly A, Simoens S, Leroy BP.   +12 more
europepmc   +1 more source

A bibliometric approach to worldwide scientific production of familial hypophosphataemic rickets in Scopus (2000-2022). [PDF]

Orphanet J Rare Dis
Hernández-García F, Gil-Peña H, López JM, Fuente R, Oro Carbajosa P, Corrales-Reyes IE, Suárez JR.   +6 more
europepmc   +1 more source

A molecular genetic study of X-linked retinal diseases

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Molecular Genetics of X-Linked Charcot-Marie-Tooth Disease

NeuroMolecular Medicine, 2006
The X-linked form of Charcot-Marie-Tooth disease (CMT1X) is the second most common molecularly designated form of hereditary motor and sensory neuropathy. The clinical phenotype is characterized by progressive distal muscle atrophy and weakness, areflexia, and variable sensory abnormalities.
Kleopas A, Kleopa, Steven S, Scherer
openaire   +2 more sources

Genetic Counselling in X-Linked Eye Diseases

Acta geneticae medicae et gemellologiae, 1973
SummaryThe fundamental principles of genetic counselling in X-linked heredity are reviewed. As many as 18 X-linked eye diseases are described and discussed. These include diseases of the eye-ball, lens, retina, choroid, optic nerve, ocular muscles, and pigmentation, as well as the ocular manifestations of systemic skin or metabolic diseases.
J. François, M. Th. Matton-Van Leuven, D. Vandenbulcke-Donck, S. De Bie   +3 more
openaire   +1 more source