Results 21 to 30 of about 1,206,149 (284)
Inhibitors in Patients with Congenital Bleeding Disorders Other Than Hemophilia [PDF]
, 2017 The most worrying complication of replacement therapy for severe hemophilia A and B is currently the occurrence of inhibitory alloantibodies against infused factor VIII and factor IX, respectively.
Franchini, Massimo +6 more
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Corneal dystrophy in a cocker spaniel dog: a case report
Atti della Accademia Peloritana dei Pericolanti - Classe di Scienze Medico-Biologiche, 2017 A 1-year-old female Cocker Spaniel dog was examined at the ophthalmology service of the Veterinary Teaching Hospital - University of Messina (Italy) for evaluation of symmetrical white spots in both corneas and “red eyes”.
Monica Ragusa +4 more
doaj +1 more source
Holomorphic Cartan geometries and rational curves [PDF]
, 2016 We prove that any compact K\"ahler manifold bearing a holomorphic Cartan geometry contains a rational curve just when the Cartan geometry is inherited from a holomorphic Cartan geometry on a lower dimensional compact K\"ahler manifold.Comment: 29 pages ...
Biswas, Indranil, McKay, Benjamin
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Familial reactive perforating collagenosis in two siblings
Indian Journal of Paediatric Dermatology, 2018 Reactive perforating collagenosis (RPC) is a rare form of transepithelial elimination disorder, in which genetically altered collagen is extruded through the epidermis. Of the acquired and inherited form, the latter is extremely rare.
Abhijna K Rai +2 more
doaj +1 more source
Indian Journal of Respiratory Care, 2020 Pulmonary embolism is a life-threatening medical emergency associated with high mortality and morbidity which is likely to be missed if a high index of suspicion is not maintained.
Naveen Kuzhikkattil +3 more
doaj +1 more source
Inherited Disorder of Hemoglobin: A Descriptive Study in Misan, Iraq, 2024 [PDF]
Journal of Medical and Life ScienceBackground: Inherited hemoglobin disorders represent a critical health challenge worldwide, These disorders encompass a range of genetic conditions affecting the structure or production of hemoglobin.
Thaer Al-Omary
doaj +1 more source
Prevalence of Coagulation Factors Deficiency among Young Adults in Saudi Arabia: A National Survey
TH Open, 2020 Introduction Inherited bleeding disorders vary in prevalence due to genetic disparity and ethnicity. Little is known about the prevalence of coagulation factor deficiency and bleeding disorders in middle-eastern population. Methods Young Saudi
Khalid A. AlSaleh +13 more
doaj +1 more source
Economics of tandem mass spectrometry screening of neonatal inherited disorders [PDF]
, 2006 Objectives: The aim of this study was to evaluate the cost-effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS). Methods: A systematic review
Beverley, C. +4 more
core +1 more source
Towards Evidence-Based Management of Inherited Breast and Breast-Ovarian Cancer
Hereditary Cancer in Clinical Practice, 2004 Inherited breast-ovarian cancer was described in 1866. The underlying genetic defects in BRCA1/2 were demonstrated 128 years later. We now have 10 years of experience with genetic testing in BRCA kindreds. The majority of breast cancer kindreds (familial
Møller Pål
doaj +1 more source
Kevlar: A Mapping-Free Framework for Accurate Discovery of De Novo Variants. [PDF]
, 2019 De novo genetic variants are an important source of causative variation in complex genetic disorders. Many methods for variant discovery rely on mapping reads to a reference genome, detecting numerous inherited variants irrelevant to the phenotype of ...
Brown, C Titus +2 more
core +1 more source