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Short-limb skeletal dysplasia with severe combined immunodeficiency
Mapping Intimacies
◽
10.32388/nclwt2
◽
2020
◽
Author(s):
Keyword(s):
Skeletal Dysplasia
◽
Severe Combined Immunodeficiency
◽
Combined Immunodeficiency
◽
Short Limb
Get full-text (via PubEx)
Related Documents
Cited By
References
Short stature/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora: report of two patients and review.
Journal of Medical Genetics
◽
10.1136/jmg.28.1.10
◽
1991
◽
Vol 28
(1)
◽
pp. 10-17
◽
Cited By ~ 22
Author(s):
K D MacDermot
◽
R M Winter
◽
J S Wigglesworth
◽
S Strobel
Keyword(s):
Short Stature
◽
Skeletal Dysplasia
◽
Severe Combined Immunodeficiency
◽
Combined Immunodeficiency
◽
Short Limb
Get full-text (via PubEx)
Malignant B-cell lymphoma in an infant with severe combined immunodeficiency with short-limbed skeletal dysplasia
Acta Paediatrica
◽
10.1111/j.1651-2227.1997.tb08588.x
◽
1997
◽
Vol 86
(7)
◽
pp. 778-780
◽
Cited By ~ 8
Author(s):
H Berg
◽
K Wage
◽
JD Burggraaf
◽
M Peters
Keyword(s):
B Cell
◽
Skeletal Dysplasia
◽
Cell Lymphoma
◽
Severe Combined Immunodeficiency
◽
B Cell Lymphoma
◽
Combined Immunodeficiency
Get full-text (via PubEx)
A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations
Journal of Bone and Mineral Research
◽
10.1002/jbmr.3173
◽
2017
◽
Vol 32
(9)
◽
pp. 1853-1859
◽
Cited By ~ 16
Author(s):
Guillermo Pacheco-Cuéllar
◽
Julie Gauthier
◽
Valérie Désilets
◽
Christian Lachance
◽
Marlène Lemire-Girard
◽
...
Keyword(s):
Bone Marrow
◽
Skeletal Dysplasia
◽
Congenital Malformations
◽
Bone Marrow Failure
◽
Severe Combined Immunodeficiency
◽
Combined Immunodeficiency
◽
Severe Phenotype
Get full-text (via PubEx)
Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations
Journal of Clinical Immunology
◽
10.1007/s10875-021-00985-w
◽
2021
◽
Author(s):
Mathieu Fusaro
◽
Aline Vincent
◽
Martin Castelle
◽
Jérémie Rosain
◽
Benjamin Fournier
◽
...
Keyword(s):
Skeletal Dysplasia
◽
Severe Combined Immunodeficiency
◽
Combined Immunodeficiency
◽
Homozygous Mutations
Get full-text (via PubEx)
600: Effect of Dietary Omega-6 Fatty Acid on Androgen-Independent Prostate Tumor Progression and Survival in Severe Combined Immunodeficiency Mice
The Journal of Urology
◽
10.1016/s0022-5347(18)37862-5
◽
2004
◽
Vol 171
(4S)
◽
pp. 159-160
Author(s):
Tung Ngo
◽
James Barnard
◽
Todd Anton
◽
Chris Tran
◽
David Elashoff
◽
...
Keyword(s):
Fatty Acid
◽
Tumor Progression
◽
Severe Combined Immunodeficiency
◽
Prostate Tumor
◽
Combined Immunodeficiency
◽
Omega 6
◽
Androgen Independent
Get full-text (via PubEx)
HETERORESISTANCE FOR RIFAMPICIN IN AN INFANT WITH DISSEMINATED TB AND JAK 3 HOMOZYGOUS SEVERE COMBINED IMMUNODEFICIENCY
10.26226/morressier.59063dc1d462b80290b51dea
◽
2017
◽
Author(s):
Vidya Krishna
Keyword(s):
Severe Combined Immunodeficiency
◽
Combined Immunodeficiency
Get full-text (via PubEx)
ADENOSINE DEAMINASE DEFICIENT SEVERE COMBINED IMMUNODEFICIENCY WITH HYPERTROPHIC CARDIOMYOPATHY
10.26226/morressier.594a7d47d462b8028d893816
◽
2017
◽
Author(s):
Flinn Aisling
Keyword(s):
Hypertrophic Cardiomyopathy
◽
Adenosine Deaminase
◽
Severe Combined Immunodeficiency
◽
Combined Immunodeficiency
Get full-text (via PubEx)
Treatment of refractory norovirus infection with enteral inmmunoglobulin in patients with severe combined immunodeficiency
10.26226/morressier.5acdc65bd462b8029238d8a4
◽
2018
◽
Author(s):
ROSELLA LEE
Keyword(s):
Severe Combined Immunodeficiency
◽
Combined Immunodeficiency
Get full-text (via PubEx)
Faculty Opinions recommendation of Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy.
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
◽
10.3410/f.1005837.70356
◽
2002
◽
Author(s):
Seppo Yla-Herttuala
Keyword(s):
Gene Therapy
◽
Ex Vivo
◽
Severe Combined Immunodeficiency
◽
Combined Immunodeficiency
◽
Ex Vivo Gene Therapy
Get full-text (via PubEx)
Faculty Opinions recommendation of Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion.
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
◽
10.3410/f.1142879.599967
◽
2009
◽
Author(s):
Antony Basten
Keyword(s):
Attention Deficit Hyperactivity Disorder
◽
Attention Deficit
◽
Severe Combined Immunodeficiency
◽
Combined Immunodeficiency
◽
Hyperactivity Disorder
Get full-text (via PubEx)
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