Suchergebnisse - (Subject:"Polymerase Chain Reaction")

PubPharm (321)

1

Homozygous MED25 mutation implicated in eye–intellectual disability syndrome

enthalten in: Human genetics | 2015

von Basel-Vanagaite, L. | Smirin-Yosef, P. | Essakow, J. | +18

2

Association between TNFRSF11B gene polymorphisms and history of ischemic stroke in Italian diabetic patients

enthalten in: Human genetics | 2012

von Biscetti, F. | Straface, G. | Giovannini, S. | +7

3

Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis

enthalten in: Human genetics | 2011

von Armengol, L. | Nevado, J. | Serra-Juhé, C. | +12

4

Identification of HAVCR1 gene haplotypes associated with mRNA expression levels and susceptibility to autoimmune diseases

enthalten in: Human genetics | 2010

von García-Lozano, J. | Abad, C. | Escalera, A. | +10

5

Association between Apolipoprotein E genotype and cerebral palsy is not confirmed in a Caucasian population

enthalten in: Human genetics | 2008

von McMichael, G. | Gibson, C. | Goldwater, P. | +4

6

Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA)

enthalten in: Human genetics | 2005

von Gatta, V. | Scarciolla, O. | Gaspari, A. | +7

7

Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene

enthalten in: Human genetics | 2005

von Kawai, Y. | Moriyama, A. | Asai, K. | +4

8

Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology

enthalten in: Human genetics | 2005

von Mackay, D. | Temple, I. | Shield, J. | +1

9

A large MSH2 Alu insertion mutation causes HNPCC in a German kindred

enthalten in: Human genetics | 2004

von Kloor, M. | Sutter, C. | Wentzensen, N. | +5

10

Functional disomy resulting from duplications of distal Xq in four unrelated patients

enthalten in: Human genetics | 2004

von Lachlan, K. | Collinson, M. | Sandford, R. | +3

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