Concepedia

Author

R M Gardiner

University College London

Also Known As

I Cox, O. Oktem, R Gardiner, R M Gardiner, R. Gardiner, R. M. Gardiner, R.M Gardiner, R.M. Gardiner, R.Marc Gardiner, RM Gardiner

91

Publications

2.5K

Citations

29

H-Index

125

Concepts

All Affiliations

University College LondonJohn Radcliffe HospitalLeiden UniversityThe Royal Free HospitalInstitute for Molecular Medicine Finland
RM

About

R M Gardiner is an author at University College London specializing in medicine, genetics, and pathology.

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

22

33

1.1K

2

Health Sciences

6

6

262

3

Natural Sciences

4

4

88

4

Education

1

1

12

5

Public Health

1

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11

R M Gardiner

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53

Publications

2.3K

Citations

28

H-Index

YearCitations

Sodium channel α1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms

Robyn H. Wallace, Bree Hodgson, Bronwyn E. Grinton,

Neurology

2003

187

Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity

J-L Blouin, Maggie Meeks, Uppala Radhakrishna,

European Journal of Human Genetics

2000

150

Properties of human glycine receptors containing the hyperekplexia mutation α1(K276E), expressed in <i>Xenopus</i> oocytes

T. Lewis, Lucia G. Sivilotti, David Colquhoun,

The Journal of Physiology

1998

102

Batten disease (Spielmeyer‐Sjogren disease) and haptoglobins (HP): indication of linkage and assignment to chr. 16

Hans Eiberg, R M Gardiner, Jan Mohr

Clinical Genetics

1989

88

Linkage analysis of idiopathic generalized epilepsy (IGE) and marker loci on chromosome 6p in families of patients with juvenile myoclonic epilepsy: no evidence for an epilepsy locus in the HLA region.

William Whitehouse, Mark I. Rees, David Curtis,

PubMed

1993

87

Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis

Leena Lauronen, Patricia B. Munroe, Irma Järvelä,

Neurology

1999

85

Brain Metabolism and Intracellular pH During Ischaemia and Hypoxia: An In Vivo <sup>31</sup>P and <sup>1</sup>H Nuclear Magnetic Resonance Study in the Lamb

Peter Hope, Ernest B. Cady, Alexander L. Chu,

Journal of Neurochemistry

1987

84

Impaired mitochondrial beta-oxidation in a patient with an abnormality of the respiratory chain. Studies in skeletal muscle mitochondria.

Nicholas J. Watmough, Laurence A. Bindoff, Mark A. Birch‐Machin,

Journal of Clinical Investigation

1990

76

Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis.

Frances Elmslie, Sarah Hutchings, V. Spencer,

Journal of Medical Genetics

1996

75

Axonemal Beta Heavy Chain Dynein DNAH9: cDNA Sequence, Genomic Structure, and Investigation of Its Role in Primary Ciliary Dyskinesia

Lucia Bartoloni, Jean‐Louis Blouin, Amit K. Maiti,

Genomics

2001

70

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