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The use of a highly informative CA repeat polymorphism within the abetalipoproteinaemia locus (4q22-24).
Published in:
Prenatal Diagnosis, 1997, v. 17, n. 12, p. 1181, doi. 10.1002/(SICI)1097-0223(199712)17:12<1181::AID-PD205>3.0.CO;2-A
By:
- Heath, Karen E.;
- Luong, Le-ahn;
- Leonard, James V.;
- Chester, Ann;
- Shoulders, Carol C.;
- Scott, James;
- Middleton-Price, Helen R.;
- Humphries, Steve E.;
- Talmud, Philippa J.
Publication type:
Article
Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing.
Published in:
Journal of Molecular Medicine, 2006, v. 84, n. 3, p. 203, doi. 10.1007/s00109-005-0019-z
By:
- Humphries, Steve E.;
- Cranston, Treena;
- Allen, Marcus;
- Middleton-Price, Helen;
- Fernandez, Maryam C.;
- Senior, Victoria;
- Hawe, Emma;
- Iversen, Andrew;
- Wray, Richard;
- Crook, Martin A.;
- Wierzbicki, Anthony S.
Publication type:
Article
A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom.
Published in:
European Journal of Human Genetics, 2001, v. 9, n. 4, p. 244, doi. 10.1038/sj.ejhg.5200633
By:
- Heath, Karen E;
- Humphries, Steve E;
- Middleton-Price, Helen;
- Boxer, Maureen
Publication type:
Article
Cystic fibrosis mutation analysis: Report from 22 U.K. regional genetics laboratories.
Published in:
Human Mutation, 1995, v. 6, n. 4, p. 326, doi. 10.1002/humu.1380060406
By:
- Schwarz, Martin J.;
- Malone, Geraldine M.;
- Haworth, Andrea;
- Cheadle, Jeremy P.;
- Meredith, A. Linda;
- Gardner, Anne;
- Sawyer, I. Hilary;
- Connarty, Margaret;
- Dennis, Nick;
- Seller, Anneke;
- Harris, Ann;
- Taylor, Rohan;
- Dear, Simon;
- Middleton-Price, Helen;
- McMahon, Cathie;
- Mayall, Ed;
- McMahon, Rob;
- Barton, David E.;
- Giles, Martin;
- Lindley, Victoria
Publication type:
Article
Genetic linkage analysis identifies new proximal and distal flanking markers for the X-linked agammaglobulinemia gene locus, refining its localization in Xq22.
Published in:
Human Molecular Genetics, 1993, v. 2, n. 2, p. 139
By:
- Lovering, Ruth;
- Middleton-Price, Helen R.;
- O'Reilly, Marie-Anne J.;
- Genet, Sally A.;
- Parkar, Mohammed;
- Sweatman, Angela K.;
- Bradley, Linda D.;
- Alterman, Lesley A.;
- Malcolm, Sue;
- Morgan, Gareth;
- Levinsky, Roland J.;
- Kinnon, Christine
Publication type:
Article

Found: 5

The use of a highly informative CA repeat polymorphism within the abetalipoproteinaemia locus (4q22-24).

Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing.

A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom.

Cystic fibrosis mutation analysis: Report from 22 U.K. regional genetics laboratories.

Genetic linkage analysis identifies new proximal and distal flanking markers for the X-linked agammaglobulinemia gene locus, refining its localization in Xq22.