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Norma Leonard
Observed names:
Leonard, Norma Jean.,
N J Leonard,
N Leonard,
N. Leonard,
N.-J. Leonard,
N.J. Leonard,
Norma J Leonard,
Norma J. Leonard,
Norma Jean Leonard
show all 9
Institutions:
University of Alberta,
Women and Children’s Health Research Institute
Observed institutions:
University of Alberta,
Alberta Hospital Edmonton,
Alberta Children's Hospital,
University of Alberta Hospital,
Women and Children’s Health Research Institute,
Stollery Children's Hospital
show all 6
OpenAlex ID:
A5113637161
Mutations in the telomere capping complex in bone marrow failure and related syndromes
2012
·
A. J. Walne
, T. Bhagat
, et al.
·
Haematologica
·
116
PDF
Diploid/tetraploid/t(1;6) mosaicism in a 17‐year‐old female with hypomelanosis of Ito, multiple congenital anomalies, and body asymmetry
2002
·
N.J. Leonard
, D.J. Tomkins
·
American Journal of Medical Genetics
·
93
Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type
2015
·
Mala Isrie
, Martin Breuss
, et al.
·
The American Journal of Human Genetics
·
87
PDF
Costello syndrome associated with novel germline HRAS mutations: An attenuated phenotype?
2008
·
Karen W. Gripp
, A. Micheil Innes
, et al.
·
American Journal of Medical Genetics Part A
·
71
Polytopic anomalies with agenesis of the lower vertebral column
1999
·
Axel Bohring
, Susan O. Lewin
, et al.
·
American Journal of Medical Genetics
·
63
Two-year general and neurodevelopmental outcome after neonatal complex cardiac surgery in patients with deletion 22q11.2: A comparative study
2007
·
Joseph Atallah
, Ari R. Joffe
, et al.
·
Journal of Thoracic and Cardiovascular Surgery
·
56
PDF
Analysis of chromosomal abnormalities in human sperm after chemotherapy by karyotyping and fluorescence in situ hybridization (FISH)
1995
·
Renée H. Martin
, Alfred W. Rademaker
, et al.
·
Cancer Genetics and Cytogenetics
·
53
High prevalence of sensorineural hearing loss among survivors of neonatal congenital diaphragmatic hernia. Western Canadian ECMO Follow-up Group.
1998
·
C M Robertson
, P Y Cheung
, et al.
·
PubMed
·
45
Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunction
2017
·
Malte Spielmann
, Luis R Hernandez-Miranda
, et al.
·
Journal of Medical Genetics
·
36
Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients
2013
·
R. Bhargava
, K. J. Au Yong
, et al.
·
American Journal of Neuroradiology
·
32
PDF
Sensorineural hearing loss, striate palmoplantar hyperkeratosis, and knuckle pads in a patient with a novel connexin 26 (GJB2) mutation
2005
·
N J Leonard
, A L Krol
, et al.
·
Journal of Medical Genetics
·
24
PDF
Autosomal dominant inheritance of spondyloenchondrodysplasia
2005
·
R. Bhargava
, N.J. Leonard
, et al.
·
American Journal of Medical Genetics Part A
·
23
Sacrococcygeal teratoma in two cases of Sotos syndrome
2000
·
N.J. Leonard
, T. Cole
, et al.
·
American Journal of Medical Genetics
·
22
Terminal deletion of chromosome 10q at band 26.1: Follow-up in an adolescent male with high-output renal failure from congenital obstructive uropathy
1999
·
N.J. Leonard
, F.L. Harley
, et al.
·
American Journal of Medical Genetics
·
22
Prenatal diagnosis of holoprosencephaly (HPE) in a fetus with a recombinant (18)dup(18q)inv(18)(p11.31q11.2)mat
2000
·
Norma J. Leonard
, Darrell J. Tomkins
, et al.
·
Prenatal Diagnosis
·
21
Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype
2012
·
Karen W. Gripp
, Elizabeth Hopkins
, et al.
·
American Journal of Medical Genetics Part A
·
18
Two-year neurodevelopmental outcomes of infants undergoing neonatal cardiac surgery for interrupted aortic arch: A descriptive analysis
2009
·
Chloe A. Joynt
, Charlene M.T. Robertson
, et al.
·
Journal of Thoracic and Cardiovascular Surgery
·
18
PDF
The novel p.Ser263Phe mutation in the human high‐affinity choline transporter 1 (CHT1/ SLC5A7 ) causes a lethal form of fetal akinesia syndrome
2019
·
Mayukh Banerjee
, Denis Arutyunov
, et al.
·
Human Mutation
·
17
PDF
A Novel Deletion in the Thyrotropin Beta-Subunit Gene Identified by Array Comparative Genomic Hybridization Analysis Causes Central Congenital Hypothyroidism in a Boy Originating from Turkey
2014
·
Pia Hermanns
, Robert Couch
, et al.
·
Hormone Research in Paediatrics
·
17
Testicular Mixed Germ Cell Tumor in an Adolescent with Cowden Disease
2007
·
Minati Devi
, Norma Leonard
, et al.
·
Oncology
·
15
A second patient with MCA/MR syndrome with multiple circumferential skin creases
2002
·
N.J. Leonard
·
American Journal of Medical Genetics
·
15
Intracranial calcification, retinopathy, and osteopenia: a new syndrome?
2002
·
Mona Sazgar
, Norma J Leonard
, et al.
·
Pediatric Neurology
·
15
Delineating the expanding phenotype of HERC2 ‐related disorders: The impact of biallelic loss of function versus missense variation
2021
·
Krista M. Vincent
, Alison Eaton
, et al.
·
Clinical Genetics
·
10
Prevalence of Childhood Permanent Hearing Loss after Early Complex Cardiac Surgery
2018
·
Karin T. Bork
, Beatrice P. To
, et al.
·
The Journal of Pediatrics
·
10
Marked phenotypic variable expression among brothers with duplication of Xq27.1 involving theSOX3gene
2015
·
Elizabeth T. Rosolowsky
, Robert Stein
, et al.
·
Journal of Pediatric Endocrinology and Metabolism
·
9
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Works count:
37
Citation count:
944
H-index:
17
I10-index:
24
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