Concepedia

Norma Leonard

NL

Statistics

Publications

22

Citations

838

H-Index

17

Active since

1995

Affiliations

University of Alberta(Current)

University of Calgary

University of Alberta Hospital

Alberta Hospital Edmonton

Glenrose Rehabilitation Hospital

Norma Leonard is an author at University of Alberta specializing in medicine, pathology, and public health.

Top concepts

Publications per year

1995–2019

22

Publications

22

Mutations in the telomere capping complex in bone marrow failure and related syndromes

A. J. Walne, Tushar D. Bhagat, M. Kirwan et al. · Haematologica · 2012 · 112 citations · Full text

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Diploid/tetraploid/t(1;6) mosaicism in a 17‐year‐old female with hypomelanosis of Ito, multiple congenital anomalies, and body asymmetry

Norma Leonard, Darrell J. Tomkins · American Journal of Medical Genetics · 2002 · 92 citations

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type

Mala Isrie, Martin W. Breuss, Guoling Tian et al. · The American Journal of Human Genetics · 2015 · 83 citations · Full text

Costello syndrome associated with novel germline <i>HRAS</i> mutations: An attenuated phenotype?

Karen W. Gripp, A. Micheil Innes, Marni E. Axelrad et al. · American Journal of Medical Genetics Part A · 2008 · 67 citations

Polytopic anomalies with agenesis of the lower vertebral column

Axel Bohring, Susan O. Lewin, James F. Reynolds et al. · American Journal of Medical Genetics · 1999 · 62 citations

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