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Fragile X screening for FRAXA and FRAXE mutations using PCR based studies: Results of a five year study, 12/2006
Background: Fragile X syndrome is the most common cause of inherited X-linked mental retardation. It is due to a mutation in a gene on X chromosome leading to... 
Fragile X syndrome, trinucleotide repeat, methylation, pre-mutation, full mutation, heterozygosity, polymerase chain reaction
Journal
Indian pediatrics, 09/2017, Volume 54, Issue 9, pp. 781 - 782
Journal Article
Gut, ISSN 0017-5749, 06/2010, Volume 59, Issue 6, pp. 800 - 807
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 04/2019, Volume 64, Issue 4, pp. 323 - 331
Metachromatic leukodystrophy due to Arylsulfatase A enzyme deficiency is an autosomal recessive disorder caused by biallelic variations in ARSA gene. Till date... 
PHENOTYPE | MUTATIONS | IDENTIFICATION | PSAP GENES | FAMILIES | GENETICS & HEREDITY
Journal Article
Indian pediatrics, 01/2016, Volume 53, Issue 1, pp. 19 - 20
Journal Article
Indian pediatrics, 01/2016, Volume 53, Issue 1, p. 19
Journal Article
Journal of Fetal Medicine, ISSN 2348-1153, 6/2019, Volume 6, Issue 2, pp. 95 - 97
Antenatally diagnosed echogenic kidneys have several underlying etiologies such as aneuploidies, monogenic isolated or syndromic polycystic kidney disease,... 
Obstetrics/Perinatology/Midwifery | Carnitine palmitoyltransferase II deficiency | Medicine & Public Health | Diagnostic Radiology | Echogenic kidneys | Maternal and Child Health | Ultrasound | Next generation sequencing | Reproductive Medicine
Journal Article
Indian Journal of Medical Research, ISSN 0971-5916, 01/2014, Volume 139, Issue 1, pp. 4 - 6
Journal Article
Human Genetics, ISSN 0340-6717, 01/2010, Volume 127, Issue 1, p. 123
Journal Article
JOURNAL OF HUMAN GENETICS, ISSN 1434-5161, 10/2019, Volume 64, Issue 10, pp. 985 - 994
Tay-Sachs disease (TSD) (OMIM) is a neurodegenerative lysosomal storage disorder caused due to mutations in the HEXA gene. To date, nearly 190 mutations have... 
DNA | HEXOSAMINIDASE ALPHA-GENE | GENETICS & HEREDITY | CONSEQUENCES | DIFFERENT MUTATIONS | JEWISH | COMMON | HEXA GENE | JAPANESE PATIENTS | SUBUNIT
Journal Article
Journal of Pediatric Endocrinology and Metabolism, ISSN 0334-018X, 01/2020, Volume 33, Issue 1, pp. 79 - 88
Background Our objective was to estimate the prevalence of pathogenic/likely pathogenic variants in the SHOX, GHR, and IGFALS genes among Indian children with... 
short stature etiology | growth hormone insensitivity | haploinsufficiency | growth hormone-IGF axis | acid labile subunit
Journal Article
Indian Journal of Medical Research, Supplement, ISSN 0367-9012, 06/2018, Volume 147, Issue 6, pp. 615 - 618
Journal Article
BMC MEDICAL GENETICS, ISSN 1471-2350, 10/2019, Volume 20, Issue 1, pp. 164 - 9
Journal Article
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