7 citations
,
April 2008 in “Progrès en Urologie”
3 citations
,
June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
1 citations
,
May 2023 in “Frontiers in endocrinology” A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
1 citations
,
October 2025 in “Micromachines” Portable point-of-care testing can improve quick and accurate genetic disorder detection.
1 citations
,
January 2017 in “Indian Journal of Pharmaceutical Sciences” Women with PCOS often have different clinical signs, hormone levels, and gynecological issues compared to those without the condition.