Recent advances in methodology for clinical trials in small populations : the InSPiRe project [PDF]
, 2018 Where there are a limited number of patients, such as in a rare disease, clinical trials in these small populations present several challenges, including statistical issues. This led to an EU FP7 call for proposals in 2013.
Alberti, Corinne +21 more
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Drosophila type IV collagen mutation associates with immune system activation and intestinal dysfunction [PDF]
, 2004 This thesis introduces and explores a new type of representation for low and medium level vision operations called channel representation. The channel representation is a more general way to represent information than e.g.
Kiss, Márton +6 more
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Femtosecond laser-assisted cataract surgery in anterior lenticonus due to Alport syndrome
American Journal of Ophthalmology Case Reports, 2017 Purpose: We describe a case of bilateral anterior lenticonus in a patient with Alport syndrome treated with femtosecond laser-assisted cataract surgery (FLACS).
Alexander C. Barnes, Allen S. Roth
doaj +1 more source
Anxiety, depression, and quality of life in patients with familial glomerulonephritis or autosomal dominant polycystic kidney disease [PDF]
, 2011 INTRODUCTION: Psychological aspects and quality of life are often evaluated in patients under renal replacement therapy, but studies about anxiety, de>pression, and quality of life in familial renal diseases are lacking.
Barros, Bruna Paes de +3 more
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Emésztőrendszeri diszfunkció és humorális immunválasz kapcsolata IV-es típusú kollagén mutációkkal Drosophilában [PDF]
, 2017 The structure and function of the mucosal epithelia is determined and supported by the underlying basement membrane (BM). The BM functions in separation, epithelial cell polarization, absorption, sensation and secretion in various tissues and body ...
Kiss Márton
core
A Case With Renal Failure, Hearing Loss and Double Ureters
Turkish Journal of Nephrology, 2019 In nephrology practice, the association of renal failure and deafness immediately brings to mind the Alport syndrome. However, in the differential diagnosis of deafness and renal failure a great number of syndromes ranging from Alport to Muckle-Wells ...
Kübra KAYNAR +6 more
doaj
Potassium channel subunits encoded by the KCNE gene family: physiology and pathophysiology of the MinK-related peptides (MiRPs). [PDF]
, 2001 Voltage-gated potassium channels provide tightly Controlled, ion-specific pathways across membranes and are key to the normal function of nerves muscles. They arise from the assembly of four pore-forming proteins called alpha-subunits.
Abbott, GW, Goldstein, SA
core
Scientific ReportsAlport syndrome is a common monogenic kidney disease resulting from pathogenic variants in COL4A3, COL4A4 or COL4A5 genes. The estimated global population prevalence is one in 106 individuals for autosomal dominant (AD) and one in 2,320 for sex-linked ...
Tina Si Ting Lim +12 more
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Bilateral Retinal Problem in a Patient With Alport Syndrome. [PDF]
, 2017 Adam, Murtaza K +2 more
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Characteristics of Mid-Frequency Sensorineural Hearing Loss Progression. [PDF]
, 2019 OBJECTIVES:To characterize the progression of mid-frequency sensorineural hearing loss (MFSNHL) over time. METHODS:A retrospective chart review spanning 2012 to 2017 was performed at a tertiary care audiology and neurotology center.
Abouzari, Mehdi +9 more
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