Search details
1.
Phenotypes and genotypes of the chromosomal instability syndromes.
Transl Pediatr
; 5(2): 79-83, 2016 Apr.
Article
in English
| MEDLINE | ID: mdl-27186524
2.
Chromosome 13q neocentromeres: molecular cytogenetic characterization of three additional cases and clinical spectrum.
Am J Med Genet
; 110(3): 258-67, 2002 Jul 01.
Article
in English
| MEDLINE | ID: mdl-12116235
3.
Advances in the medical research and clinical applications on the plasma DNA.
Transl Pediatr
; 3(2): 140-8, 2014 Apr.
Article
in English
| MEDLINE | ID: mdl-26835332
4.
Fanconi anemia pathway defects in inherited and sporadic cancers.
Transl Pediatr
; 3(4): 300-4, 2014 Oct.
Article
in English
| MEDLINE | ID: mdl-26835350
5.
Genetics of hereditary neurological disorders in children.
Transl Pediatr
; 3(2): 108-19, 2014 Apr.
Article
in English
| MEDLINE | ID: mdl-26835329
6.
Advances in genetic studies of inherited bone marrow failure syndromes and their associated malignancies.
Transl Pediatr
; 3(4): 305-9, 2014 Oct.
Article
in English
| MEDLINE | ID: mdl-26835351
7.
Spectral karyotyping: an unique technique for the detection of complex genomic rearrangements in leukemia.
Transl Pediatr
; 3(2): 135-9, 2014 Apr.
Article
in English
| MEDLINE | ID: mdl-26835331
8.
The concept and practice of Fanconi Anemia: from the clinical bedside to the laboratory bench.
Transl Pediatr
; 2(3): 112-9, 2013 Jul.
Article
in English
| MEDLINE | ID: mdl-26835301
9.
How to make the timely diagnosis to stabilize disease progression and prevent the organ damage from Fabry disease?
Transl Pediatr
; 5(1): 43, 2016 Jan.
Article
in English
| MEDLINE | ID: mdl-26835406
10.
Chromosomal instability syndromes-the most classical and representative types of rare diseases.
Transl Pediatr
; 5(2): 84, 2016 Apr.
Article
in English
| MEDLINE | ID: mdl-27186525
11.
Challenges and opportunities in the studies on rare diseases.
Transl Pediatr
; 4(3): 239, 2015 Jul.
Article
in English
| MEDLINE | ID: mdl-26835381
12.
Resolution of trisomic mosaicism in prenatal diagnosis: estimated performance of a 50K SNP microarray.
Prenat Diagn
; 27(13): 1197-204, 2007 Dec.
Article
in English
| MEDLINE | ID: mdl-17994637
13.
Molecular distinction between true centric fission and pericentric duplication-fission.
Hum Genet
; 116(4): 300-10, 2005 Mar.
Article
in English
| MEDLINE | ID: mdl-15712016
14.
Three different origins for apparent triploid/diploid mosaics.
Prenat Diagn
; 23(7): 529-34, 2003 Jul.
Article
in English
| MEDLINE | ID: mdl-12868076
15.
Issues arising from the prenatal diagnosis of some rare trisomy mosaics--the importance of cryptic fetal mosaicism.
Prenat Diagn
; 24(7): 524-36, 2004 Jul.
Article
in English
| MEDLINE | ID: mdl-15300743
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