Results 181 to 190 of about 159,600 (311)

Intragenic deletion ofTRIM32in compound heterozygotes with sarcotubular myopathy/LGMD2H [PDF]

, 2009
Kristian Borg, Rolf Stucka, Matthew Locke, Eva Melin, Gabrielle à hlberg, Ursula Klutzny, Maja von der Hagen, Angela Huebner, Hanns Lochmà ⁄ ller, Klaus Wrogemann, Lars‐Eric Thornell, Derek J. Blake, Benedikt Schoser   +12 more
openalex   +1 more source

Prevalence of double heterozygotes of HbE and α-thal 1 (SEA) type in pregnancies and their partners that received antenatal care at Chiangrai Prachanukroh Hospital and reevaluated the cut-offs for differentiation. [PDF]

PLoS One
Leckngam P, Wamontree P, Chuaykarn T.
europepmc   +1 more source

Loss of the Atp2c1 Secretory Pathway Ca2+-ATPase (SPCA1) in Mice Causes Golgi Stress, Apoptosis, and Midgestational Death in Homozygous Embryos and Squamous Cell Tumors in Adult Heterozygotes [PDF]

, 2007
Gbolahan W. Okunade, Marian L. Miller, Mohamad Azhar, Anastasia Andringa, Lynn Sanford, Thomas Doetschman, Vikram Prasad, Gary E. Shull   +7 more
openalex   +1 more source

Heterozygote advantage as a natural consequence of adaptation in diploids

Proceedings of the National Academy of Sciences of the United States of America, 2011
Diamantis Sellis, B. Callahan, D. Petrov, Philipp W. Messer   +3 more
semanticscholar   +1 more source

Common and rare genetic variants explain distinct diagnostic variance in pediatric attention deficit hyperactivity disorder. [PDF]

Genet Med
Arnett AB, Koesterer R, Tovar PG, O'Connell M, Patel S, Zhang H, French CE, Rockowitz S, Flannick J, Doan R.   +9 more
europepmc   +1 more source

The present state of knowledge of colour-heredity in mice and rats [PDF]

, 2010
Bateson, William
core  

Molecular basis for Glanzmann's thrombasthenia (GT) in a compound heterozygote with glycoprotein IIb gene: a proposal for the classification of GT based on the biosynthetic pathway of glycoprotein IIb-IIIa complex [PDF]

, 1992
A Kato, K Yamamoto, Satomi Miyazaki, SM Jung, Masaaki Moroi, N Aoki   +5 more
openalex   +1 more source

Effects of inbreeding on balancing selection: insights from Fisher's geometric model. [PDF]

Genetics
Olito C, Connallon T.
europepmc   +1 more source

Adeno-associated vector corneal gene therapy reverses corneal clouding in a feline model of mucopolysaccharidosis VI. [PDF]

PLoS One
Gilger BC, Song L, Hasegawa T, Salmon JH, Bower JJ, Vridhachalam N, Collins E, Roberts D, Bagel J, Molony C, Vite C, Hirsch ML.   +11 more
europepmc   +1 more source

Genetic control of diabetes and insulitis in the nonobese diabetic mouse. Pedigree analysis of a diabetic H-2nod/b heterozygote. [PDF]

, 1989
Linda S. Wicker, B J Miller, Paul Fischer, A Pressey, Laurence B. Peterson   +4 more
openalex   +1 more source