15 documents found, page 1 of 2

Manifesting carriers of X-linked myotubular myopathy: Genetic modifiers modulat...

Made available in DSpace on 2021-06-25T11:03:08Z (GMT). No. of bitstreams: 0 Previous issue date: 2020-01-01; Objective To analyze the modulation of the phenotype in manifesting carriers of recessive X-linked myotubular myopathy (XLMTM), searching for possible genetic modifiers. Methods Twelve Brazilian families with XLMTM were molecularly and clinically evaluated. In 2 families, 4 of 6 and 2 of 5 manifesting f...

HW_TEST, a program for comprehensive HARDY-WEINBERG equilibrium testing

Edward Maxwell (Max) Nicholls (1927–2011), a key player in the development of t...

Novel mutations of PAX3, MITF and SOX10 genes found in Waardenburg syndrome typ...

Estimation of population genetic parameters in human isolates from Vale do Ribe...

A note on the population genetic consequences of delayed larval development in ...

In memory of James F. Crow (1916-2012), a life dedicates to population genetics...

Construção e uso de um micrótomo de mão, empregado para obtenção de cortes fino...

Oswaldo Frota-Pessoa (1917-2010): a successful three-lane road in science; obit...

Inbreeding levels in Northeast Brazil: strategies for the prospecting of new ge...