Results 91 to 100 of about 4,171 (132)

Case Report: Successful treatment of dystrophic epidermolysis bullosa pruriginosa with upadacitinib in a patient with <i>COL7A1</i>, <i>CARD14</i>, and <i>G6PD</i> gene mutations. [PDF]

Front Med (Lausanne)
Li H, Zhang Y, Lin X, Yan T, Wu X, Zhang Z.   +5 more
europepmc   +1 more source

Resolving haplotypes of the glucose-6-phosphate dehydrogenase gene using long-range polymerase chain reaction and Oxford Nanopore sequencing. [PDF]

Biol Methods Protoc
Chamchoy K, Jacob BAC, Boonyuen U.
europepmc   +1 more source

Spectrum of glucose-6-phosphate dehydrogenase (G6PD) mutations and trends in hemoglobin levels among adult dengue patients in Thailand. [PDF]

PLoS One
Chamnanchanunt S, Jacob BAC, Thanachartwet V, Desakorn V, Singha-Art N, Sahassananda D, Chamchoy K, Louis NE, Hamza MA, Ab Latif N, Amran SI, Stephens HAF, Nguitragool W, Boonyuen U.   +13 more
europepmc   +1 more source

X chromosome inactivation across primary human tissues is mostly complete, with significant implications for genetic and clinical studies. [PDF]

BMC Genomics
Shriner D, Doumatey AP, Lei L, Gouveia MH, Meeks KAC, Heuston EF, Zhou J, Adeyemo AA, Rotimi CN.   +8 more
europepmc   +1 more source

Improved red blood cell storage quality of blood from donors carrying the hypermorphic PIMT I120 variant. [PDF]

Hemasphere
Bevers S, Issaian AV, Hay A, Keele GR, Dzieciatkowska M, Reisz JA, Haiman ZB, Nemkov T, Stephenson D, Moore AL, Deng X, Stone M, Hansen KC, Kleinman S, Norris PJ, Busch MP, Palsson BO, Roubinian NH, Janetzko J, Vӧgeli B, Page GP, Jones DN, Henen MA, Eisenmesser EZ, Zimring JC, D'Alessandro A.   +25 more
europepmc   +1 more source

Sickle cell retinopathy in pediatric patients: exploring correlations and predictive factors. [PDF]

Graefes Arch Clin Exp Ophthalmol
Rodrigues Alves N, Barão C, Barros Silva P, Ludovico I, Costa L, Silva E, Anjos R, Serras Pereira R.   +7 more
europepmc   +1 more source

A retrospective cross-sectional study on newborn screening and prevalence of disorders among UAE population. [PDF]

Front Pediatr
Shafique K, Raza A, Naushad A, Hussain F, Walid D, Wareth L, El-Hattab AW, Bedair RN, Al Dweik R, Sadier NS.   +9 more
europepmc   +1 more source