Browsing by Author "Qamar, Y"
Now showing items 1-10 of 10
-
Clinical and Genetic characterization of primary adrenal insufficiency in Sudanese children
Musa, SA; Abdullah, MA; Hassan, SS; Qamar, Y; Hall, C; Maitra, S; Maharaj, AV; Ramirez, LMM; Read, J; Smith, C (2022) -
Genetic Aetiology of Primary Adrenal Insufficiency in Sudan
Smith, C; Abdullah, M; Hassan, S; Qamar, Y; Hall, C; Maitra, S; Maharaj, A; Mariela, MRL; Read, J; Chan, L -
Genetic analysis of paediatric primary adrenal insufficiency of unknown aetiology over 25 years
Buonocore, F; Maharaj, A; Qamar, Y; Koehler, K; Suntharalingham, JP; Chan, LF; Ferraz-de-Souza, B; Hughes, CR; Lin, L; Prasad, R (2021-09) -
Genetic analysis of pediatric primary adrenal insufficiency of unknown etiology: 25 years’ experience in the UK
Buonocore, F; Maharaj, A; Qamar, Y; Koehler, K; Suntharalingham, JP; Chan, LF; Ferraz-de-Souza, B; Hughes, CR; Lin, L; Prasad, R (Oxford University Press, 2021-05-12)Context Although primary adrenal insufficiency (PAI) in children and young people is often due to congenital adrenal hyperplasia (CAH) or autoimmunity, other genetic causes occur. The relative prevalence of these conditions ... -
In Vitro Splicing Assay Proves the Pathogenicity of Intronic Variants in MRAP
Smith, C; Maharaj, AV; Qamar, Y; Read, J; Williams, J; Chan, L; Marimuthu, V; Metherell, L (2021-05-03) -
In vitro splicing assay proves the pathogenicity of intronic variants in MRAP
Smith, C; Maharaj, A; Qamar, Y; Read, J; Williams, J; Marimuthu, V; Chan, L; Metherell, L -
The lack of genotype: phenotype correlations in rare causes of primary adrenal insufficiency highlights the need for genetic testing
Maitra, S; Smith, C; Hall, C; Read, J; Maharaj, AV; Mariela, MRL; Qamar, Y; Prasad, R; Chan, LF; Metherell, LA -
A rapid genetic diagnosis for >80% individuals with non-CAH Primary Adrenal Insufficiency is achievable by candidate gene sequencing combined with WES
Smith, C; Read, J; Hall, C; Maharaj, A; Marroquin, RL; Qamar, Y; Hughes, C; Clark, A; Prasad, R; Chan, L -
RF33 | PSAT69 A Combined Candidate Gene/Whole Exome Sequencing Approach Permits a Rapid Genetic Diagnosis for >81% Individuals with Primary Adrenal Insufficiency.
Chan, L; Smith, C; Read, J; Hall, C; Maharaj, A; Ramirez, LM; Qamar, Y; Hughes, C; Clark, A; Musa, S (The Endocrine Society, 2022-11-01) -
Validation of the OAKS prognostic model for acute kidney injury after gastrointestinal surgery
Ahmed, WUR; Bhatia, S; McLean, KA; Khaw, R; Baker, D; Kamarajah, SK; Bell, S; Nepogodiev, D; Harrison, EM; Glasbey, JC (2022)