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MECP2 mutations in males; report of a case with Prader-Willi-like phenotype

, : MECP2 mutations in males; report of a case with Prader-Willi-like phenotype. European Journal of Human Genetics 10(Supplement 1): 219


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Storm-Paris, I.; Storme, T.; Thauvin, M.; Brion, F.; Chaminade, P.; Rieutord, A., 2009: The value of near infrared spectroscopy in a small hospital compounding unit to control the risks associated with raw materials. Pharmaceutical products, including capsules, oral suspensions, and solutions, are prepared by hospital pharmacists if no commercial product is available. Identification of the raw materials is a regulatory requirement before manufacturing (compoun...

Miyamoto, T.; Miyamoto, M.; Inoue, Y.; Usui, Y.; Suzuki, K.; Hirata, K., 2006: Reduced cardiac 123I-MIBG scintigraphy in idiopathic REM sleep behavior disorder. Idiopathic REM sleep behavior disorder (RBD) may represent prodromal synucleinopathies. We report markedly reduced cardiac (123)I-metaiodobenzylguanidine uptake, consistent with the loss of sympathetic terminals, in idiopathic RBD. We also demonst...

Moghaieb, R., E.A.; El-Awady, M., A.; El-Mergawy, R., G.; Youssef, S., S.; El-Sharkawy, A., M., 2006: A reproducible protocol for regeneration and transformation in canola (Brassica napus L.). The objective of the present study is to develop an efficient protocol for shoot and plant regeneration using five commercial canola cultivars grown under the Egyptian agricultural conditions. The regeneration efficiency from hypocotyl explants wa...

Verdu C.B.; Lizabe M.R.; Gomez Serranillos Fernandez M., 1983: Contribution to the toxicological study of astragalus lusitanicus. The toxic principle of A. lusitanicus was studied. The LD50 of different plant organs and extracts were determined. Primary and secondary amines caused the lethal effect in rats.

Poisson, Geoffroy,, 1932: Sparganosis of pigs in Madagascar. Rec Med Vet Exotique Ecole D Alfort 5(1): 21-22

Smith, B.C., 1991: Changes in perikymata and their significance to a postmortem dental identification. Perikymata are wavelike features that are normally found in the surface enamel of teeth. These structures are known to undergo regressive changes due to gradual attrition, mechanical abrasion, or chemical erosion. Forensic science has suggested th...

Leisure, K.M.; Nicolson, N.L.; Nicolson, G.L., 1998: Hospitalizations after the Persian Gulf War. Emerging Infectious Diseases 4(4): 707-709

Wang, G.; Papasani, M.R.; Cheguru, P.; Hrdlicka, P.J.; Hill, R.A., 2012: Gold-peptide nanoconjugate cellular uptake is modulated by serum proteins. Gold nanoparticles (Au NPs, 20 nm) were conjugated with two different cysteine-terminated peptides. Radio-ligand binding studies were conducted to characterize Au NP-peptide binding, suggesting both covalent and noncovalent interactions. The inter...

Staveski, S.L.; Wu, M.; Tesoro, T.M.; Roth, S.J.; Cisco, M.J., 2017: Interprofessional Team's Perception of Care Delivery After Implementation of a Pediatric Pain and Sedation Protocol. Pain and agitation are common experiences of patients in pediatric cardiac intensive care units. Variability in assessments by health care providers, communication, and treatment of pain and agitation creates challenges in management of pain and s...