Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Quang Minh Diep"'
Autor:
Van Khanh Tran, Quang Minh Diep, Qiu Zilong, Le Thi Phuong, Hai Anh Tran, Nguyen Van Tung, Nguyen Thi Kim Lien, Nguyen Thi Xuan, Le Thi Ha, Thanh Van Ta, Thinh Huy Tran, Nguyen Huy Hoang
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
BackgroundHarlequin ichthyosis (HI) is a severe rare genetic disease that mainly affects the skin. Neonates with this disease are born with thick skin and large diamond-shaped plates covering most of their bodies. Affected neonates lose the ability t
Externí odkaz:
https://doaj.org/article/ca519a899c2e4d529e2a60e94cf7f822
Autor:
Van Khanh Tran, Quang Minh Diep, Zilong Qiu, Thi Phuong Le, Long Duy Do, Hai Anh Tran, The-Hung Bui, Thanh Van Ta, Thinh Huy Tran
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 61, Iss 1, Pp 153-156 (2022)
Objective: We investigated a strategy of exome sequencing DNA from the unaffected parents and applied a set of filtering criteria to identify genes where both partners are heterozygous for a potentially pathogenic variant. Case report: We report a no
Externí odkaz:
https://doaj.org/article/7d0c80ef47ca4f5dbd1835c5e5e4cd1f
Autor:
Thinh Huy Tran, Quang Minh Diep, My Ha Cao, Long Hoang Luong, Van Anh Pham, Oanh Thi Lan Dinh, The-Hung Bui, Thanh Van Ta, Van Khanh Tran
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 60, Iss 5, Pp 907-910 (2021)
Objective: MCPH (microcephaly primary hereditary) is a group of autosomal recessive developmental disorders with microcephaly present at birth and intellectual disability. Since a second trimester ultrasound is not able to detect subtypes with minima
Externí odkaz:
https://doaj.org/article/e687972212e746a6a43da3973b4e8443
Autor:
Oanh Thi Lan Dinh, Thanh Van Ta, Thinh Huy Tran, The-Hung Bui, My Ha Cao, Long Hoang Luong, Quang Minh Diep, Van Anh Pham, Van Khanh Tran
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 60, Iss 5, Pp 907-910 (2021)
Objective MCPH (microcephaly primary hereditary) is a group of autosomal recessive developmental disorders with microcephaly present at birth and intellectual disability. Since a second trimester ultrasound is not able to detect subtypes with minimal
Autor:
The-Hung Bui, Quang Minh Diep, Thanh Van Ta, Thinh Huy Tran, Long Hoang Luong, Hung Quoc Nguyen, Oanh Thi Lan Dinh, Van Khanh Tran
Publikováno v:
Pediatric dermatologyREFERENCES. 37(3)
Autosomal recessive congenital ichthyosis is a heterogeneous group of congenital disorders characterized by aberrant skin cornification and diffuse skin scaling. Some patients with this condition are born encased in a collodion membrane which is late
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