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A Multiplex PCR-Based Next-Generation Sequencing Approach Has Detected a Common Large Deletion in STS Gene in a Patient with X-Linked Ichthyosis
(Articles)
Francesco Calì
,
Giuseppa Maria Luana Mandarà
,
Giuseppa Ruggeri
,
Corrado Romano
,
Valeria Chiavetta
,
Alda Ragalmuto
,
Roberto Salluzzo
,
Valentino Romano
,
Marilena Galati Tardanico
,
Carmelo Schepis
Journal of Biomedical Science and Engineering
Vol.9 No.7
,June 15, 2016
DOI:
10.4236/jbise.2016.97028
2,001
Downloads
3,248
Views
Citations
X-Linked Dominant Congenital Ptosis Cosegregating with an Interstitial Insertion of a Chromosome 1p21.3 Fragment into a Quasipalindromic Sequence in Xq27.1
(Articles)
David J. Bunyan
,
David O. Robinson
,
Anthony G. Tyers
,
Shuwen Huang
,
Vivienne K. Maloney
,
Francis H. Grand
,
Sarah Ennis
,
Samantha R. de Silva
,
John A. Crolla
,
Tristan F. W. McMullan
Open Journal of Genetics
Vol.4 No.6
,October 29, 2014
DOI:
10.4236/ojgen.2014.46039
5,755
Downloads
6,699
Views
Citations
Allergic and nonallergic rhinitis in children: The role of nasal cytology
(Articles)
Maria Cristina Provero
,
Alberto Macchi
,
Sara Antognazza
,
Maddalena Marinoni
,
Luigi Nespoli
Open Journal of Pediatrics
Vol.3 No.2
,June 18, 2013
DOI:
10.4236/ojped.2013.32024
5,248
Downloads
8,663
Views
Citations
Four Cases of X-Linked Hypophosphatemic Rickets, Clinical Description and Genetic Testing
(Articles)
David Vila-Pérez
,
Sílvia Marín-del-Barrio
,
Jordi Vila-Cots
,
Jose Antonio Camacho-Díaz
,
Marcos Morey
,
Lourdes Loidi
Open Journal of Genetics
Vol.4 No.1
,March 5, 2014
DOI:
10.4236/ojgen.2014.41006
3,644
Downloads
5,595
Views
Citations
A Novel Bruton’s Tyrosine Kinase Mutation in Russian Patient with X-Linked Agammaglobulinemia
(Articles)
S. Deryabina
,
I. Tuzankina
,
E. Vlasova
,
A. Pavlova
,
M. Bolkov
Case Reports in Clinical Medicine
Vol.6 No.10
,October 1, 2017
DOI:
10.4236/crcm.2017.610027
1,144
Downloads
2,839
Views
Citations
A Case of Complete Neu-Laxova Syndrome: Report and Literature Review
(Articles)
Bouchra Fakhir
,
Oussama Rachid
,
Amal Ait Benhassi
,
Nisrine Aboussair
,
Abderraouf Soummani
Open Journal of Obstetrics and Gynecology
Vol.10 No.3
,March 9, 2020
DOI:
10.4236/ojog.2020.1030031
476
Downloads
2,716
Views
Citations
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