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BMC NEUROLOGY, ISSN 1471-2377, 07/2019, Volume 19, Issue 1, pp. 153 - 7
BackgroundMultiple Mitochondrial Dysfunctions Syndrome 4 (MMDS4) is manifested as a result of ISCA2 mutations. ISCA2 is a vital component of 4Fe-4S clusters... 
ISCA2 | MMDS4 | WES | Iron-sulfur clusters | Glycine encephalopathy | Leukoencephalopathy | CLINICAL NEUROLOGY | PREDICT | Fe-S clusters | SULFUR CLUSTER BIOGENESIS | SERVER | BOLA3 | HOMOZYGOUS P.(GLU87LYS) VARIANT | MUTATION | Energy production | Care and treatment | Mitochondrial diseases | Diagnosis
Journal Article
Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences, ISSN 1735-1995, 2019, Volume 24, Issue 1, pp. 44 - 44
Dysfunction of polycystin-1 or polycystin-2, the proteins encoded by polycystic kidney disease 1 ( ) and , respectively, are the cause of autosomal dominant... 
Hypertension | Genes | Amino acids | Patients | Data bases | Cell adhesion & migration | Studies | Proteins | Signal transduction | Cysts | Infertility | Mutation | Kidney diseases | next-generation sequencing | Autosomal dominant polycystic kidney disease | polycystic kidney disease 1 | polycystic kidney disease 2
Journal Article
Journal of Medical Case Reports, ISSN 1752-1947, 03/2018, Volume 12, Issue 1, pp. 68 - 7
Wilson disease is an autosomal recessive disorder of copper transport and is characterized by excessive accumulation of cellular copper in the liver and other... 
Wilson disease | Sequencing | Compound heterozygote | ATP7B gene | Genetic aspects | Research | Gene mutations | Wilson's disease
Journal Article
Iranian journal of kidney diseases, 11/2018, Volume 12, Issue 6, p. 350
A wide variety of mutations are spread throughout the PKHD1 gene, which encodes a 4074-bp amino acid protein, namely fibrocystin/polyductin, and is responsible... 
Journal Article
Iranian journal of kidney diseases, 11/2018, Volume 12, Issue 6, pp. 350 - 358
Journal Article
Nature, ISSN 0028-0836, 10/2011, Volume 478, Issue 7367, pp. 57 - 63
Journal Article
BMC Cardiovascular Disorders, ISSN 1471-2261, 07/2018, Volume 18, Issue 1, pp. 137 - 7
Journal Article
Journal of Clinical Laboratory Analysis, ISSN 0887-8013, 10/2019
Journal Article
Journal of Medical Cases, ISSN 1923-4155, 2017, Volume 8, Issue 3, pp. 102 - 104
Journal Article
Journal of Medical Cases, ISSN 1923-4155, 2017, Volume 8, Issue 4, pp. 111 - 113
Journal Article
PLoS ONE, ISSN 1932-6203, 2010, Volume 5, Issue 12, p. e15661
Journal Article
Human Mutation, ISSN 1059-7794, 06/2017, Volume 38, Issue 6, pp. 621 - 636
Journal Article
International journal of molecular sciences, ISSN 1422-0067, 09/2019, Volume 20, Issue 18, p. 4475
In the development of the skeleton, the long bones are arising from the process of endochondral ossification (EO) in which cartilage is replaced by bone. This... 
lncRNAs | microRNAs | chondrogenesis | non-coding RNAs | cartilage development
Journal Article
European journal of medical genetics, ISSN 1769-7212, 08/2019, p. 103750
Molecular characterization of novel mutations in Leber Congenital Amaurosis (LCA) disease improves the disease diagnosis and contributes to the development of... 
Journal Article
Gene, ISSN 0378-1119, 06/2019, Volume 702, pp. 8 - 16
Three important factors, including genetics, environment factors and autoimmunity play a role in the pathogenesis of rheumatoid arthritis (RA). The... 
Genetics | HLA shared epitope | Pathogenesis | Rheumatoid arthritis | RADIOGRAPHIC SEVERITY | SHARED EPITOPE HYPOTHESIS | SUSCEPTIBILITY | JOINT DESTRUCTION | RADIOLOGICAL DAMAGE | SINGLE-NUCLEOTIDE POLYMORPHISM | CITRULLINATED PROTEIN ANTIBODIES | HUNGARIAN PATIENTS | GENETICS & HEREDITY | ENVIRONMENTAL RISK-FACTORS | ASSOCIATION
Journal Article
ORPHANET JOURNAL OF RARE DISEASES, ISSN 1750-1172, 07/2019, Volume 14, Issue 1, pp. 184 - 7
Journal Article
Human Mutation, ISSN 1059-7794, 07/2019, Volume 40, Issue 7, pp. 996 - 1004
Homozygosity mapping is a well‐known technique to identify runs of homozygous variants that are likely to harbor genes responsible for autosomal recessive... 
computer simulation | ALSPAC | sequence variants | genetic association analysis | <