Results 291 to 300 of about 717,864 (344)

Case Report: A heterozygous mutation of NLRP3 in a Chinese child with NLRP3-AID. [PDF]

Front Pediatr
Ruan Y, Ge T, Wang Y, Zhang T, Song F.
europepmc   +1 more source

A case of Axenfeld-Rieger syndrome with neuroradiological abnormalities. [PDF]

Radiol Case Rep
Ohkubo Y, Hayashi T, Ida K, Nakano E, Hamada A, Higashida T, Asakawa Y, Yoshikawa K, Yokokawa T, Tago M.   +9 more
europepmc   +1 more source

A socio-ecological System Dynamics model of antimicrobial use and resistance

Redman-White CJ, Kopainsky B, Muwonge A, Peters AR, Moran D.   +4 more
europepmc   +1 more source

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Spontaneous Mutation of Hemoglobin Lufkin in a White Boy

Journal of Pediatric Hematology/Oncology, 2009
A 10-year-old white boy presented clinically with thalassemia major facies, pallor, jaundice, and hepatomegaly. Investigation revealed the patient has hemoglobin (Hb) Lufkin concurrent with beta(0) thalassemia. DNA sequencing of the beta globin gene confirmed a GGC to a GAC mutation at codon 29 (gly to asp) for Hb Lufkin on the patient and also ...
Paul J. Kurtin, Ding Wen Wu, Peihong Hsu, James D. Hoyer, Ahna M. Blutreich, Gungor Karayalcin   +5 more
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Migraine with aura and white matter abnormalities: Notch3 mutation [PDF]

Neurology, 2000
The authors report on an Italian family with eight affected members who show autosomal dominant migraine with prolonged visual, sensory, motor, and aphasic aura. These symptoms are associated with white matter abnormalities on brain MRI. All living affected members carry a Notch3 mutation (Arg153Cys) previously reported in cerebral autosomal dominant ...
CERONI, MAURO, POLONI TE, TONIETTI S, FABOZZI D, UGGETTI C, FREDIANI F, SIMONETTI F, MALASPINA A, ALIMONTI D, CELANO M, FERRARI M, CARRERA P.   +11 more
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Vanishing White Matter Disease with Mutations in EIF2B5 Gene

The Indian Journal of Pediatrics, 2014
An 18-mo-old girl was brought with complaints of sudden loss of attained milestones after a febrile illness at 13 mo of age. MRI of the brain showed extensive loss of white matter with rarefaction and cystic degeneration; suggestive of vanishing white matter disease. The patient was found to be compound heterozygote for two mutations in the gene EIF2B5;
Varinder Singh, Satinder Aneja, Suvasini Sharma, Mohemmed Ajij   +3 more
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