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Molecular genetic analysis of the cystathionine β-synthase gene in Portuguese homocystinuria patients: three novel mutations
Clinical Genetics
◽
10.1034/j.1399-0004.2001.600212.x
◽
2008
◽
Vol 60
(2)
◽
pp. 161-163
◽
Cited By ~ 3
Author(s):
R Castro
◽
SG Heil
◽
I Rivera
◽
C Jakobs
◽
IT De Almeida
◽
...
Keyword(s):
Genetic Analysis
◽
Molecular Genetic
◽
Molecular Genetic Analysis
◽
Novel Mutations
Download Full-text
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Cited By
References
Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: Biochemical and molecular genetic analysis in two Czech families with xanthinuria type I
Clinica Chimica Acta
◽
10.1016/j.cca.2011.08.038
◽
2012
◽
Vol 413
(1-2)
◽
pp. 93-99
◽
Cited By ~ 21
Author(s):
Blanka Stiburkova
◽
Jakub Krijt
◽
Petr Vyletal
◽
Josef Bartl
◽
Eva Gerhatova
◽
...
Keyword(s):
Genetic Analysis
◽
Molecular Genetic
◽
Xanthine Dehydrogenase
◽
Molecular Genetic Analysis
◽
Type I
◽
Novel Mutations
Download Full-text
Molecular genetic analysis of patients from India with hypohidrotic ectodermal dysplasia reveals novel mutations in the EDA and EDAR genes
British Journal of Dermatology
◽
10.1111/j.1365-2133.2007.08231.x
◽
2007
◽
Vol 0
(0)
◽
pp. 071027220355006-???
Author(s):
A.R. RamaDevi
◽
E.C. Reddy
◽
S. Ranjan
◽
M.D. Bashyam
Keyword(s):
Genetic Analysis
◽
Ectodermal Dysplasia
◽
Molecular Genetic
◽
Molecular Genetic Analysis
◽
Hypohidrotic Ectodermal Dysplasia
◽
Novel Mutations
Download Full-text
Systematic molecular genetic analysis of congenital sideroblastic anemia: Evidence for genetic heterogeneity and identification of novel mutations
Pediatric Blood & Cancer
◽
10.1002/pbc.22244
◽
2009
◽
Vol 54
(2)
◽
pp. 273-278
◽
Cited By ~ 57
Author(s):
Anke K. Bergmann
◽
Dean R. Campagna
◽
Erin M. McLoughlin
◽
Suneet Agarwal
◽
Mark D. Fleming
◽
...
Keyword(s):
Genetic Analysis
◽
Genetic Heterogeneity
◽
Molecular Genetic
◽
Molecular Genetic Analysis
◽
Novel Mutations
◽
Sideroblastic Anemia
◽
Congenital Sideroblastic Anemia
Download Full-text
Molecular Genetic Analysis of Tunisian Patients with a Classic Form of 21-Hydroxylase Deficiency: Identification of Four Novel Mutations and High Prevalence of Q318X Mutation
The Journal of Clinical Endocrinology & Metabolism
◽
10.1210/jc.2003-031056
◽
2004
◽
Vol 89
(1)
◽
pp. 368-374
◽
Cited By ~ 55
Author(s):
Maher Kharrat
◽
Véronique Tardy
◽
Ridha M’Rad
◽
Faouzi Maazoul
◽
Lamia Ben Jemaa
◽
...
Keyword(s):
Genetic Analysis
◽
Molecular Genetic
◽
Molecular Genetic Analysis
◽
Novel Mutations
◽
Hydroxylase Deficiency
◽
High Prevalence
◽
Tunisian Patients
◽
Classic Form
◽
21 Hydroxylase Deficiency
Download Full-text
Importance of molecular-genetic analysis in diagnostics of primary open-angle glaucoma
POINT OF VIEW EAST – WEST
◽
10.25276/2410-1257-2018-88-91
◽
2018
◽
pp. 88-91
Author(s):
V.K. Surkova
◽
◽
A.Z. Kalenteva
◽
L.U. Dzhemileva
◽
◽
...
Keyword(s):
Genetic Analysis
◽
Primary Open Angle Glaucoma
◽
Open Angle Glaucoma
◽
Molecular Genetic
◽
Molecular Genetic Analysis
◽
Open Angle
Download Full-text
Telomerase Independent Telomere Maintenance in Ovarian Cancer: A Molecular Genetic Analysis
10.21236/ada407268
◽
2002
◽
Author(s):
Dominique Broccoli
Keyword(s):
Ovarian Cancer
◽
Genetic Analysis
◽
Molecular Genetic
◽
Molecular Genetic Analysis
◽
Telomere Maintenance
Download Full-text
Telomerase Independent Telomere Maintenance in Ovarian Cancer: A Molecular Genetic Analysis
10.21236/ada428241
◽
2004
◽
Author(s):
Dominique Broccoli
Keyword(s):
Ovarian Cancer
◽
Genetic Analysis
◽
Molecular Genetic
◽
Molecular Genetic Analysis
◽
Telomere Maintenance
Download Full-text
Repeated molecular genetic analysis in Brugada syndrome revealed a novel disease-associated large deletion in the SCN5A gene
HeartRhythm Case Reports
◽
10.1016/j.hrcr.2016.02.008
◽
2016
◽
Vol 2
(3)
◽
pp. 261-264
◽
Cited By ~ 2
Author(s):
Anders Krogh Broendberg
◽
Lisbeth Noerum Pedersen
◽
Jens Cosedis Nielsen
◽
Henrik Kjaerulf Jensen
Keyword(s):
Genetic Analysis
◽
Brugada Syndrome
◽
Molecular Genetic
◽
Large Deletion
◽
Molecular Genetic Analysis
◽
Scn5a Gene
Download Full-text
Molecular Genetic Analysis of Neural Stem Cells After Space Flight And Simulated Microgravity on Earth
Biotechnology and Bioengineering
◽
10.1002/bit.27858
◽
2021
◽
Author(s):
Yilin Han
◽
Lukas Zeger
◽
Rekha Tripathi
◽
Marcel Egli
◽
Fabian Ille
◽
...
Keyword(s):
Stem Cells
◽
Genetic Analysis
◽
Neural Stem Cells
◽
Space Flight
◽
Simulated Microgravity
◽
Molecular Genetic
◽
Molecular Genetic Analysis
Download Full-text
Molecular genetic analysis of a class B periplasmic-flagellum gene of Treponema phagedenis.
Journal of Bacteriology
◽
10.1128/jb.174.20.6404-6410.1992
◽
1992
◽
Vol 174
(20)
◽
pp. 6404-6410
◽
Cited By ~ 4
Author(s):
R J Limberger
◽
L L Slivienski
◽
D B Yelton
◽
N W Charon
Keyword(s):
Genetic Analysis
◽
Molecular Genetic
◽
Molecular Genetic Analysis
◽
Class B
◽
Flagellum Gene
Download Full-text
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