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Clinical and experimental dermatology, ISSN 0307-6938, 10/2019
Deleterious mutations within the SLC45A2 gene, encoding membrane-associated transporter protein (MATP), are responsible for type 4 oculocutaneous albinism. The... 
Journal Article
Clinical Genetics, ISSN 0009-9163, 09/2017, Volume 92, Issue 3, pp. 323 - 326
Journal Article
Journal of Postgraduate Medicine, ISSN 0022-3859, 04/2018, Volume 64, Issue 2, pp. 98 - 103
Journal Article
Blood, ISSN 0006-4971, 2016, Volume 127, Issue 25, pp. 3154 - 3164
Journal Article
Clinical Genetics, ISSN 0009-9163, 09/2017, Volume 92, Issue 3, pp. 323 - 326
Journal Article
Current Science, ISSN 0011-3891, 2017, Volume 113, Issue 6, pp. 1139 - 1141
The present study involves the synthesis of a series of Dy3+(1-11 mol%) doped LaOF nanophosphor prepared by solution combustion method using Aloe Vera gel as... 
Nanophosphor | SEM | Synthesis | Lanthanum oxyfluoride | PXRD | synthesis | ROUTE | MULTIDISCIPLINARY SCIENCES | NANOCRYSTALS | LUMINESCENT PROPERTIES | WLEDS | PHOSPHORS | FLUORESCENCE | EMISSION | nanophosphor
Journal Article
Clinical Genetics, ISSN 0009-9163, 11/2018, Volume 94, Issue 5, pp. 457 - 460
Journal Article
03/2011
One of the landmarks in clinical genetics is prenatal diagnosis of genetic disorders. The recent advances in the field have made it possible to diagnose the... 
Pre-implantation diagnosis | genetics | prenatal diagnosis
Web Resource
Clinical Genetics, ISSN 0009-9163, 10/2014, Volume 86, Issue 4, pp. 318 - 325
Journal Article
Clinical Genetics, ISSN 0009-9163, 07/2018, Volume 94, Issue 1, pp. 159 - 164
The location and/or type of variants in FLNB result in a spectrum of osteochondrodysplasias ranging from mild forms, like spondylocarpotarsal synostosis... 
spondylocarpotarsal synostosis syndrome | FLNB | vertebral segmentation defects | carpal coalition | GENETIC-VARIATION | VERTEBRAL SEGMENTATION | GENETICS & HEREDITY | FILAMIN | MUTATIONS | SPECTRUM | Dysplasia | Dysostosis | Vertebrae | Spondylocarpotarsal synostosis | Thorax
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2017, Volume 7, Issue 1, pp. 15585 - 13
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 01/2017, Volume 120, Issue 1-2, pp. S76 - S77
Journal Article
Journal of the European Academy of Dermatology and Venereology, ISSN 0926-9959, 01/2017, Volume 31, Issue 1, pp. e17 - e20
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 11/2013, Volume 110, Issue 3, pp. 352 - 361
Journal Article
Journal Article
Journal Article