Results 121 to 130 of about 1,095,554 (340)
ASYMPTOMATIC HYPONATREMIA IN PULMONARY TUBERCULOSIS 1 [PDF]
, 1950 Ethan A.H. Sims +3 more
openalex +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT NM_000141.5: FGFR2 c.1032G>A is a pathogenic variant that causes Crouzon syndrome through activation of a new donor splice site. This clinical report highlights the intrafamilial variability that can exist with this specific variant. The proband is a 4‐year‐old boy who initially presented with concern for seizures.
Jessica T. Ogawa +3 more
wiley +1 more source
Variation in HIV-1 set-point viral load: epidemiological analysis and an evolutionary hypothesis.
, 2007 The natural course of HIV-1 infection is characterized by a high degree of heterogeneity in viral load, not just within patients over time, but also between patients, especially during the asymptomatic stage of infection.
Chapman, Ruth +4 more
core +2 more sources
Expanding the Tyrosine Kinase Domain of CSF1R? A Case Report From an Adult‐Onset Leukoencephalopathy
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), also termed hereditary diffuse leukoencephalopathy with spheroids‐1 (HDLS1), results from mutations in the CSF1R gene and leads to progressive leukoencephalopathy.
Piervito Lopriore +11 more
wiley +1 more source
Xylella fastidiosa: Host Range and Advance in Molecular Identification Techniques
Frontiers in Plant Science, 2017 In the never ending struggle against plant pathogenic bacteria, a major goal is the early identification and classification of infecting microorganisms.
Paolo Baldi +2 more
doaj +1 more source
Asymptomatic Bacteriuria in Girl Entrants to Dundee Primary Schools [PDF]
, 1969 D C Savage +3 more
openalex +1 more source
Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio +13 more
wiley +1 more source
Urinary Concentrating Ability in Women with Asymptomatic Bacteriuria in Pregnancy [PDF]
, 1969 G. L. Williams +2 more
openalex +1 more source
Cervical cancer screening and HPV genotype distribution among asymptomatic patients of Karachi Pakistan [PDF]
, 1969 Mubeena Shahid
openalex +1 more source