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British Journal of Ophthalmology, ISSN 0007-1161, 10/2014, Volume 98, Issue 10, pp. 1460 - 1462
Journal Article
Journal Article
British Journal of Ophthalmology, ISSN 0007-1161, 10/2014, Volume 98, Issue 10, pp. 1460 - 1462
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 135, Issue 2, pp. AB183 - AB183
  Mutation analysis confirmed homozygous novel missense mutation in FERMT3. Besides persistent leukocytosis and impaired platelet aggregation which are the... 
Allergy and Immunology | Relapse | Genetic aspects | Health aspects | Medical genetics | Diseases | Bone marrow | Infections | Mutation | Transplants & implants | Adhesion | Defects
Journal Article
World Journal of Pediatrics, ISSN 1708-8569, 8/2017, Volume 13, Issue 4, pp. 392 - 394
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1007/s12519-017-0037-2 
Pediatrics | Medicine & Public Health | Surgery | Intensive / Critical Care Medicine | Maternal and Child Health | Imaging / Radiology | Pediatric Surgery | PEDIATRICS | Pregnant women | Medical genetics
Journal Article
BMC Endocrine Disorders, ISSN 1472-6823, 06/2016, Volume 16, Issue 1
Congenital adrenal hyperplasia (CAH) due to steroid 11[beta]-hydroxylase deficiency (11[beta]-OHD) is a rare form of CAH associated with low renin... 
Hypertension | Usage | Gene mutations | Analysis | Cytochrome P-450 | Influence | Genetic aspects | Research | Nucleotide sequencing | Risk factors | DNA sequencing
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 09/2016, Volume 170, Issue 9, pp. 2383 - 2388
Journal Article
Gene, ISSN 0378-1119, 05/2012, Volume 499, Issue 2, pp. 323 - 325
Cystinosis is an autosomal recessive disorder characterized by defective transport of cystine across the lysosomal membrane and resulting in renal, ophthalmic,... 
Cystinosis | CTNS | Thai | Novel mutations | GENE | GENETICS & HEREDITY | NEPHROPATHIC CYSTINOSIS | Point Mutation | DNA Mutational Analysis | Humans | Adolescent | Child, Preschool | Cystinosis - genetics | Infant | Mutation, Missense | Thailand | Child | Amino Acid Transport Systems, Neutral - genetics | Genetic research | Genetic aspects | Gene mutations | Analysis | Genes
Journal Article
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