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Heather P. Crawford
Observed names:
Heather P Crawford,
Heather P. Crawford
Observed institutions:
Baylor College of Medicine,
Cook Children's Medical Center
OpenAlex ID:
A5111666764
Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions
2012
·
Christian P Schaaf
, Philip M Boone
, et al.
·
European Journal of Human Genetics
·
122
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
2020
·
Laura Bryant
, Dong Li
, et al.
·
Science Advances
·
96
PDF
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila
2017
·
Jonas Straub
, Enrico D.H. Konrad
, et al.
·
The American Journal of Human Genetics
·
72
PDF
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
2019
·
Raphael Carapito
, Ekaterina L. Ivanova
, et al.
·
The American Journal of Human Genetics
·
59
PDF
TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities
2013
·
Wojciech Wiszniewski
, Jill V. Hunter
, et al.
·
The American Journal of Human Genetics
·
55
PDF
A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency
2021
·
Matthew A. Lines
, Alexanne Cuillerier
, et al.
·
European Journal of Human Genetics
·
12
PDF
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
2019
·
Raphael Carapito
, Ekaterina L. Ivanova
, et al.
·
The American Journal of Human Genetics
·
6
PDF
TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities
2013
·
Wojciech Wiszniewski
, Jill V. Hunter
, et al.
·
The American Journal of Human Genetics
·
6
PDF
Novel Intervening Sequence Mutation at the 5’ Splice Site of the SOX9 Gene in an XY Infant Causing Campomelic Dysplasia Not Associated with Sex Reversal.
2010
·
Cayce T. Jehaimi
, Heather P. Crawford
, et al.
·
The Endocrine Society's 92nd Annual Meeting, June 19–22, 2010 - San Diego
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Works count:
9
Citation count:
428
H-index:
6
I10-index:
6
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