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Academic Journals
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From:Journal of Neurosciences in Rural Practice (Vol. 4, Issue 5) Peer-ReviewedByline: Bhupender. Bajaj, Anand. Singh, Kuljeet. Anand, Jyoti. Garg Cerebrotendinous Xanthomatosis (CTX) is an autosomal recessive disorder of bile acid metabolism manifesting typically with the triad of neurological...
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From:Indian Journal of Cancer (Vol. 50, Issue 3) Peer-ReviewedByline: PS. Amare, V. Gadage, H. Jain, S. Nikalje, S. Manju, N. Mittal, S. Gujral, R. Nair Background: The present study of 238 B-cell Chronic Lymphocytic Leukemia (B-CLL) patients were undertaken to seek the...
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From:Annals of Indian Academy of Neurology (Vol. 16, Issue 4) Peer-ReviewedByline: Faruk. Incecik, Mehmet. Ozbek, Serdal. Gungor, Stefano. Pepe, Ozlem. Herguner, Neslihan. Mungan, Sabiha. Gungor, Sakir. Altunbasak Multiple sulfatase deficiency is biochemically characterized by the...
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From:Leukemia Research and TreatmentPeer-ReviewedThe development of the genetic studies on acute myeloid leukemias (AMLs) has led to the identification of some recurrent genetic abnormalities. Their discovery was of fundamental importance not only for a better...
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From:Nature (Vol. 513, Issue 7516) Peer-ReviewedThe loss of cells in the retina might predict a common type of dementia years before behavioural changes set in. A team led by Li Gan and Ari Green at the University of California, San Francisco, imaged the retinas...
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From:Advances in Environmental BiologyPeer-ReviewedDystonia is a motional-nervous disorder which is caused by pathologic damages of muscle and led to repetitive and spontaneous movements due to long contraction of muscles which look like ticks and finally directed to...
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From:Indian Journal of Dermatology (Vol. 60, Issue 2) Peer-ReviewedByline: Kemal. Ozyurt, Asli. Subasioglu, Perihan. Ozturk, Rahime. Inci, Fuat. Ozkan, Elena. Bueno, Javier. Canueto, Rogelio. Gonzalez Sarmiento Conradi-Hunermann-Happle syndrome (CDPX2, OMIM 302960) is an inherited...
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From:Future Oncology (Vol. 11, Issue 11) Peer-ReviewedAuthor(s): Francesca Fenizia aff1 , Antonella De Luca aff2 , Raffaella Pasquale aff1 , Alessandra Sacco aff1 , Laura Forgione aff1 , Matilde Lambiase aff1 , Alessia Iannaccone aff1 , Nicoletta Chicchinelli aff2 , Renato...
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From:Neurology India (Vol. 63, Issue 4) Peer-ReviewedByline: Nishanth. Sadashiva, Harsh. Sugur, Dwarakanath. Srinivas, Vani. Santosh, Sampath. Somanna Objective: There is significant variability in the biologic behavior of meningiomas, especially of atypical and...
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From:Indian Journal of Medical Sciences (Vol. 66, Issue 9) Peer-ReviewedByline: Ali. Tabrizi, Mohammad. Bazavar, Asghar. Elmi, Amir. Vahedi, Nilsa. Dourandish Background: Genetic variation in multiple genes associated with hemostasis and thrombosis is well documented to impact the rates...
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From:Archives of Neuropsychiatry (Vol. 48, Issue 1) Peer-ReviewedObjective: Although photosensitive epilepsy (PE) is commonly observed, its pathophysiology has not been clarified yet. However, relevant literature indicates that genetic factors play an important role. Our aim was to...
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From:Expert Review of Molecular Diagnostics (Vol. 12, Issue 8) Peer-ReviewedAuthor(s): Lies H Hoefsloot 1 , Nicole Corsten-Janssen 2 , Conny MA van Ravenswaaij-Arts 3 Keywords : 22q11.2 deletion syndrome; CHARGE syndrome; CHD7; Kallmann syndrome Clinical features of CHARGE syndrome...
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From:Future Oncology (Vol. 8, Issue 1) Peer-ReviewedRecent research has revealed over 200 genes which, when mutated, could drive tumorigenesis in colorectal cancer. Insertional mutagenesis was performed in mouse models to identify the genes, many of which have not...
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From:Expert Review of Molecular Diagnostics (Vol. 12, Issue 3) Peer-ReviewedAuthor(s): Chee-Seng Ku [**] 7 , Mengchu Wu 1 , David N Cooper 2 , Nasheen Naidoo 3 , Yudi Pawitan 4 , Brendan Pang 5 , Barry Iacopetta 6 , Richie Soong 1 Keywords : exome; exome enrichment; next-generation...
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From:Immunotherapy (Vol. 4, Issue 12) Peer-ReviewedAuthor(s): Alya Abdul-Wahab 1 , Gabriela Petrof 1 , John A McGrath [*] 2 KEYWORDS : blister; cell therapy; stem cell; type VII collagen Epidermolysis bullosa & the therapeutic challenge One of the key...
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From:Expert Review of Molecular Diagnostics (Vol. 12, Issue 7) Peer-ReviewedAuthor(s): Christos Katsios 1 , Costas Papaloukas 2 , Margaret Tzaphlidou 3 , Dimitrios H Roukos 4 Keywords : cancer genome; heterogeneity; mutations; NGS-WES; personalized diagnostics Although tumor cell...
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From:Annals of Saudi Medicine (Vol. 31, Issue 1) Peer-ReviewedByline: Khaled. Al-Jarallah, Diaa. Shehab, Mohammad. Haider Background and Objectives: Peroxisome proliferator-activated receptors (PPARs) play an important role in a number of cellular and metabolic functions. This...
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From:Middle East African Journal of Ophthalmology (Vol. 18, Issue 1) Peer-ReviewedByline: Huda. Al-Ghadeer, Jawahir. Mohamed, Arif. Khan Schnyder corneal dystrophy is a rare dominant disorder mostly reported in Western and occasionally Asian populations. This report documents the condition in an...
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From:Expert Review of Anticancer Therapy (Vol. 12, Issue 5) Peer-ReviewedAuthor(s): Tor-Christian Aase Johannessen [*] 3 , Rolf Bjerkvig 1 2 Keywords : base excision repair; cancer stem-like cell; glioblastoma; MGMT; mismatch repair; PARP; temozolomide; treatment resistance...
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From:Parkinson's DiseasePeer-ReviewedParkinson's disease (PD) is a common progressive neurodegenerative disorder. The major pathological hallmarks of PD are the selective loss of nigrostriatal dopaminergic neurons and the presence of intraneuronal...