Search details
1.
Down syndrome in diverse populations.
Am J Med Genet A
; 173(1): 42-53, 2017 Jan.
Article
in English
| MEDLINE | ID: mdl-27991738
2.
Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients.
Hum Genomics
; 9: 33, 2015 Dec 14.
Article
in English
| MEDLINE | ID: mdl-26666243
3.
De novo trisomy 12p in twin girls with different levels of mosaicism.
Am J Med Genet A
; 161A(7): 1702-5, 2013 Jul.
Article
in English
| MEDLINE | ID: mdl-23686734
4.
Rapid carrier screening for beta-thalassemia by single-step allele-specific PCR and detection.
Clin Biochem
; 40(5-6): 427-30, 2007 Mar.
Article
in English
| MEDLINE | ID: mdl-17296174
5.
Determining the cause of patchwork HBA1 and HBA2 genes: recurrent gene conversion or crossing over fixation events.
Haematologica
; 91(3): 297-302, 2006 Mar.
Article
in English
| MEDLINE | ID: mdl-16503550
6.
De novo 3q22.1 q24 deletion associated with multiple congenital anomalies, growth retardation and intellectual disability.
Gene
; 517(1): 82-8, 2013 Mar 15.
Article
in English
| MEDLINE | ID: mdl-23313878
7.
FMR1 CGG repeat patterns and flanking haplotypes in three Asian populations and their relationship with repeat instability.
Ann Hum Genet
; 70(Pt 6): 784-96, 2006 Nov.
Article
in English
| MEDLINE | ID: mdl-17044853
8.
MS analysis of single-nucleotide differences in circulating nucleic acids: Application to noninvasive prenatal diagnosis.
Proc Natl Acad Sci U S A
; 101(29): 10762-7, 2004 Jul 20.
Article
in English
| MEDLINE | ID: mdl-15247415
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