Results 21 to 30 of about 19,235 (265)

A Unique Case of a Compound Heterozygosity of Hemoglobin Korle-Bu and Sickle Cell Trait in a Military Trainee. [PDF]

J Hematol
Bowling GC, Ryden NA, Holmes AR, Lee LE, Stoll K.   +4 more
europepmc   +3 more sources

Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3. [PDF]

Am J Hum Genet, 2018
Cameron-Christie SR, Wells CF, Simon M, Wessels M, Tang CZN, Wei W, Takei R, Aarts-Tesselaar C, Sandaradura S, Sillence DO, Cordier MP, Veenstra-Knol HE, Cassina M, Ludwig K, Trevisson E, Bahlo M, Markie DM, Jenkins ZA, Robertson SP.   +18 more
europepmc   +3 more sources

Compound heterozygosity in type-II oculocutaneous albinism [PDF]

Indian Journal of Dermatology, Venereology and Leprology
Shimoni Rahul Doshi, Saloni Sawarthia, Shibhani Sudheer Hegde, Vidyadhar R. Sardesai   +3 more
openalex   +3 more sources

Compound heterozygosity in PKLR gene for a previously unrecognized intronic polymorphism and a rare missense mutation as a novel cause of severe pyruvate kinase deficiency. [PDF]

Haematologica, 2019
Bagla S, Bhambhani K, Gadgeel M, Buck S, Jin JP, Ravindranath Y.   +5 more
europepmc   +3 more sources

Perinatal lethal form Gaucher disease with compound heterozygosity of single nucleotide variants and copy number variations presenting as nonimmune hydrops fetalis and cerebellar hypoplasia: A case report

Taiwanese Journal of Obstetrics & Gynecology
Objective: To present the ultrasound imaging and genetic diagnosis of a fetus with prenatal lethal form of Gaucher disease. Case report: A 37-year-old primiparous woman was pregnant at her 23 weeks of gestation and the prenatal fetal ultrasound revealed ...
Chin-Chieh Hsu, Ni-Chung Lee, Yin-Hsiu Chien, Chao-Fan Liu, Yao-Lung Chang   +4 more
doaj   +2 more sources

Compound heterozygosity of a De novo 16q24.1 deletion and missense mutation in COX4I1 leads to developmental regression, intellectual disability, and seizures. [PDF]

Epilepsia Open
Liu Z, He M, Luo X, Pan H, Mao X, Su J.
europepmc   +3 more sources

Compound Heterozygosity in Brugada Syndrome: A Case Study

Journal of Arrhythmia, 2011
Boon Yew Tan, Rita Y.Y. Yong, Mahesh Uttamchandani, Wei Wong, Reginald Liew, Daniel Chong, Swee Chong Seow, Jia Ling Neo, Shiao Hui Yap, Linda Gan, Chi Keong Ching, Wee Siong Teo   +11 more
openalex   +2 more sources

Very long-chain acyl-CoA dehydrogenase deficiency nomenclature: compound heterozygosity [PDF]

Journal of Human Genetics, 2020
Carly M. Senefeld, Jonathon W. Senefeld
openalex   +3 more sources

Erythrocyte pyruvate kinase deficiency: A kinetic method for differentiation between heterozygosity and compound‐heterozygosity [PDF]

American Journal of Hematology, 1989
AbstractThe goal of the present study was to search for criteria that allow one to distinguish between normal individuals and heterozygotes as well as compound heterozygotes for pyruvate kinase (PK) deficiency. As the residual activity of PK with heterozygotes was between 35% and 110% of the normal activity, it was necessary to find other methods to ...
Lakomek, M., Eigen, M., Linne, S., Schröter, W.   +3 more
openaire   +3 more sources

Fetal heterozygosity for both Hb G-Hsi-Tsou and beta thalassemia: A case report

Case Reports in Women's Health, 2020
Introduction: This case report describes a fetus with compound heterozygosity for Hb G-Hsi-Tsou and beta thalassemia, diagnosed in a healthy pregnancy.
Elena Alhazidou, Maria Androulaki, Michail Panagiotopoulos, Dimitrios Boudouvas, Dionysia Lampropoulou, Eleni Yfanti, Evangelia-Eleni Delaki, Konstantina Repa, Georgios Petrakos   +8 more
doaj   +1 more source