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Clinical and Experimental Hypertension, ISSN 1064-1963, 11/2019, Volume 41, Issue 8, pp. 697 - 701
Background: Preeclampsia is a hypertensive disorder that affects pregnancy, mother, and fetus. Pathogenesis of preeclampsia could be associated with the... 
FLT1 | single nucleotide polymorphism | Preeclampsia | genetic association study | VEGFA
Journal Article
Journal of Pediatric Endocrinology and Metabolism, ISSN 0334-018X, 08/2016, Volume 29, Issue 8, p. 991
  Mucolipidosis type II α/β (ML II α/β) and mucolipidosis type III α/β (ML III α/β) have been shown to be caused by an absence or reduced level of uridine... 
Case studies | Care and treatment | Gene mutations | Mucolipidoses | Diagnosis | Pediatric research | Health aspects
Journal Article
International Journal of Pediatrics, ISSN 2345-5047, 01/2018, Volume 6, Issue 1, pp. 6899 - 6902
Backgrounds: Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder, distinguished by hypotrichosis, hypohidrosis, and hypodontia. HDE can be... 
EDAR | Mutation | Ectodermal dysplasia
Journal Article
Meta Gene, ISSN 2214-5400, 06/2018, Volume 16, pp. 196 - 198
Lipoid congenital adrenal hyperplasia (LCAH) is the most fatal form of defects in steroid hormone biosynthesis presented with in 46,XY sex reversal and severe... 
StAR | Lipoid congenital adrenal hyperplasia
Journal Article
Journal of Pediatric Endocrinology and Metabolism, ISSN 0334-018X, 08/2016, Volume 29, Issue 8, pp. 991 - 993
Journal Article
Fetal and Pediatric Pathology, ISSN 1551-3815, 09/2016, Volume 35, Issue 5, pp. 353 - 358
Journal Article
Reports of Biochemistry and Molecular Biology, ISSN 2322-3480, 2019, Volume 7, Issue 2, pp. 136 - 141
The pathogenicity of acute myeloid leukemia (AML) is highly influenced by genetic alterations, such as chromosomal abnormalities. Additionally, aberrations in... 
CEBPA | CEBPA-AS | Expression | Acute myeloid leukemia | De novo | Acute Myeloid Leukemia | Original | de novo
Journal Article
International Journal of Pediatrics, ISSN 2345-5047, 02/2018, Volume 6, Issue 2, pp. 7033 - 7037
Background Autosomal recessive polycystic kidney disease (ARPKD; OMIM number 263200) is a severe early onset hereditary form of polycystic kidney and liver... 
Gene | ARPKD | Mutation
Journal Article
Asian Pacific Journal of Cancer Prevention, ISSN 1513-7368, 2016, Volume 17, Issue sup3, pp. 149 - 153
Journal Article
Fetal and Pediatric Pathology, ISSN 1551-3815, 09/2016, Volume 35, Issue 5, pp. 353 - 358
Osteogenesis imperfecta (OI) is a set of clinically and genetically heterogeneous disorders with autosomal dominant, recessive and X-linked inheritance... 
multiple bone fractures | CRTAP gene | consanguineous | contracture | Osteogenesis imperfect a type XI | molecular analysis | FKBP10 gene | GENES | PEDIATRICS | PATHOLOGY | Frameshift Mutation | Iran | Humans | Osteogenesis Imperfecta - genetics | Male | Child | Tacrolimus Binding Proteins - genetics | Index Medicus
Journal Article
Meta Gene, ISSN 2214-5400, 02/2018, Volume 15, pp. 87 - 89
Neurodegeneration with brain iron accumulation-2A (NBIA2A, also called infantile neuroaxonal dystrophy) is an autosomal recessive disorder of the central... 
Neurodegeneration with brain iron accumulation 2A | PLA2G6 | Mutation
Journal Article
International Journal of Surgery Case Reports, ISSN 2210-2612, 2016, Volume 30, pp. 142 - 147
Highlights • We described the orthodontic treatment of a girl diagnosed with VWS. • Multidisciplinary techniques resulted in satisfactory outcomes. • Genetic... 
Surgery | Van der Woude syndrome | Case report | Cleft lip | Distraction osteogenesis | Maxilla
Journal Article
Journal of Isfahan Medical School, ISSN 1027-7595, 07/2014, Volume 32, Issue 291, pp. 972 - 981
Journal Article
مجله دانشکده پزشکی اصفهان, ISSN 1027-7595, 08/2014, Volume 32, Issue 291, pp. 972 - 981
مقدمه: سرطان روده یکی علل مهم مرگ و میر ناشی از سرطان است. یوبیکوئیتین (UBD یا Ubiquitin D) و پروتئین‌های شبه یوبیکوئیتین، ناقلان سیگنال رسانی هستند که چندین... 
Colorectal cancer | Ubiquitin D | Reverse transcription-Polymerase chain reaction (RT-PCR)
Journal Article
Journal Article
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