Results 151 to 160 of about 159,600 (311)

Symptomatic Heterozygotes and Prenatal Diagnoses in a Nonconsanguineous Family with Syndromic Combined Pituitary Hormone Deficiency Resulting from Two NovelLHX3Mutations [PDF]

, 2012
Marie‐Laure Sobrier, Cécile Brachet, Marie-Pierre Vié-Luton, Christelle Pérez, Bruno Copin, Marie Legendre, Claudine Heinrichs, Serge Amselem   +7 more
openalex   +1 more source

Endothelin receptor B, a candidate gene from human studies at high altitude, improves cardiac tolerance to hypoxia in genetically engineered heterozygote mice

Proceedings of the National Academy of Sciences of the United States of America, 2015
T. Stobdan, Dan Zhou, Eilleen S. Y. Ao-ieong, D. Ortiz, R. Ronen, Iain Hartley, Zhuohui Gan, A. McCulloch, V. Bafna, P. Cabrales, G. Haddad   +10 more
semanticscholar   +1 more source

Genome-wide compound heterozygote analysis highlights DPY19L2 alleles in a non-consanguineous Spanish family with a complete form of globozoospermia

, 2021
Lara Bossini‐Castillo, Olga López‐Rodrigo, F. David Carmona, Lluís Bassas, Sara Larriba   +4 more
openalex   +1 more source

heterozygote advantage

Citation: 'heterozygote advantage' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.14743 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms.
openaire   +1 more source

Heterozygote advantage: the effect of artificial selection in livestock and pets.

Journal of Heredity, 2015
P. Hedrick
semanticscholar   +1 more source

von Willebrand disease type1/type 2N compound heterozygotes: diagnostic and management challenges [PDF]

, 2016
Juliana Perez Botero, Rajiv K. Pruthi, William L. Nichols, Aneel A. Ashrani, Mrinal M. Patnaik   +4 more
openalex   +1 more source

Clinical phenotype in heterozygote and biallelic Bernard‐Soulier syndrome—A case control study

American journal of hematology/oncology, 2015
G. Bragadottir, Elisabet R. Birgisdottir, B. Gudmundsdottir, Bylgja Hilmarsdottir, Brynjar Vidarsson, M. K. Magnússon, O. Larsen, B. Sørensen, J. Ingerslev, P. T. Onundarson   +9 more
semanticscholar   +1 more source

Transmembrane activator and calcium-modulating cyclophilin ligand interactor mutations in common variable immunodeficiency: Clinical and immunologic outcomes in heterozygotes [PDF]

, 2007
Li Zhang, Lin Radigan, Ulrich Salzer, Timothy W. Behrens, Bodo Grimbacher, George A. Díaz, James B. Bussel, Charlotte Cunningham‐Rundles   +7 more
openalex   +1 more source

Mean corpuscular volume of heterozygotes for beta-thalassemia correlates with the severity of mutations [PDF]

, 1992
Deborah Rund, Dvora Filon, Nurith Strauss, EA Rachmilewitz, A Oppenheim   +4 more
openalex   +1 more source

'Behr syndrome' with OPA1 compound heterozygote mutations.

Brain : a journal of neurology, 2015
V. Carelli, M. Sabatelli, R. Carrozzo, T. Rizza, S. Schimpf, B. Wissinger, C. Zanna, M. Rugolo, C. La Morgia, L. Caporali, M. Carbonelli, P. Barboni, C. Tonon, R. Lodi, E. Bertini   +14 more
semanticscholar   +1 more source