The human genome : a prospect for paediatricsGARDINER, R. M.Archives of disease in childhood. 1990, Vol 65, Num 4, pp 457-461, issn 0003-9888, 5 p.Article

Action concertée européenne pour l'analyse génétique des épilepsies = Europeen concerted action on genetic analysis of epilepsyGARDINER, R. M.Epilepsies (Montrouge). 1995, Vol 7, Num 3, pp 225-227, issn 1149-6576Conference Paper

Transport of amino acids across the blood-brain barrier : implications for treatment of maternal phenylketonuriaGARDINER, R. M.Journal of inherited metabolic disease. 1990, Vol 13, Num 4, pp 627-633, issn 0141-8955, 7 p.Conference Paper

The human genome project: The next decadeGARDINER, R. M.Archives of disease in childhood. 2002, Vol 86, Num 6, pp 389-391, issn 0003-9888Article

Genes and epilepsyGARDINER, R. M.Journal of medical genetics. 1990, Vol 27, Num 9, pp 537-544, issn 0022-2593, 8 p.Article

Impact of our understanding of the genetic aetiology of epilepsyGARDINER, R. M.Journal of neurology. 2000, Vol 247, Num 5, pp 327-334, issn 0340-5354Article

Mapping the gene for juvenile onset neuronal ceroid lipofuscinosis to chromosome 16 by linkage analysisGARDINER, R. M.American journal of medical genetics. 1992, Vol 42, Num 4, pp 539-541, issn 0148-7299Article

No evidence for a susceptibility locus for idiopathic generalized epilepsy on chromosome 5 in families with typical absence seizuresWINDEMUTH, C; SCHULZ, H; NABBOUT-TARANTINO, R et al.Epilepsy research. 2002, Vol 51, Num 1-2, pp 23-29, issn 0920-1211Article

Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosisLAURONEN, L; MUNROE, P. B; KIRVESKARI, E et al.Neurology. 1999, Vol 52, Num 2, pp 360-365, issn 0028-3878Article

A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasisSTRAUTNIEKS, S. S; BULL, L. N; TANNER, M. S et al.Nature genetics. 1998, Vol 20, Num 3, pp 233-238, issn 1061-4036Article

Analysis of GLRA1 in hereditary and sporadic hyperekplexia : a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesisELMSLIE, F. V; HUTCHINGS, S. M; SPENCER, V et al.Journal of medical genetics. 1996, Vol 33, Num 5, pp 435-436, issn 0022-2593Article

Exclusion of the locus for autosomal recessive pseudohypoaldosteronism type 1 from the mineralocorticoid receptor gene region on human chromosome 4q by linkage analysisCHUNG, E; HANUKOGLU, A; REES, M et al.The Journal of clinical endocrinology and metabolism. 1995, Vol 80, Num 11, pp 3341-3345, issn 0021-972XArticle

Human forms of neuronal ceroidlipofuscinosis (batten disease) : consensus on diagnostic criteria, Hamburg 1992KOHLSCHÜTTER, A; GARDINER, R. M; GOEBEL, H. H et al.Journal of inherited metabolic disease. 1993, Vol 16, Num 2, pp 241-244, issn 0141-8955Conference Paper

Juvenile neuronal ceroid-lipofuscinosis : characterization of the dyslipoproteinaemia and demonstration of membrane phospholipid and phospholipid-dependent signal transduction abnormalities in cultured skin fibroblastsBENNETT, M. J; POIRIER, S. J; CHERN, L et al.Journal of inherited metabolic disease. 1993, Vol 16, Num 2, pp 308-311, issn 0141-8955Conference Paper

Linkage analysis of late-infantile neuronal ceroid-lipofuscinosis (CLN2) using markers on chromosome 16pWILLIAMS, R; MITCHISON, H; MCKAY, T et al.Journal of inherited metabolic disease. 1993, Vol 16, Num 2, pp 342-344, issn 0141-8955Conference Paper

Functional studies in fibroblasts of adenylosuccinase-deficient childrenVAN DEN BERGH, F; VINCENT, M. F; JAEKEN, J et al.Journal of inherited metabolic disease. 1993, Vol 16, Num 2, pp 425-434, issn 0141-8955Conference Paper

The deficient degradation of synthetic 2- and 3-methyl-branched fatty acids in fibroblasts from patients with peroxisomal disordersVAN VELDHOVEN, P. P; HUANG, S; EYSSEN, H. J et al.Journal of inherited metabolic disease. 1993, Vol 16, Num 2, pp 381-391, issn 0141-8955Conference Paper

Tandem direct duplications of mitochondrial DNA in mitochondrial myopathy: analysis of nucleotide sequence and tissue distributionPOULTON, J; DEADMAN, M. E; GARDINER, R. M et al.Nucleic acids research. 1989, Vol 17, Num 24, pp 10223-10229, issn 0305-1048Article

Sodium channel α1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasmsWALLACE, R. H; HODGSON, B. L; YAMAMOTO, T et al.Neurology. 2003, Vol 61, Num 6, pp 765-769, issn 0028-3878, 5 p.Article

Mutations in the gene encoding the human matrix Gla protein cause Keutel syndromeMUNROE, P. B; OLGUNTURK, R. O; FRYNS, J.-P et al.Nature genetics. 1999, Vol 21, Num 1, pp 142-144, issn 1061-4036Article

Benign childhood epilepsy with centrotemporal spikes and the focal sharp wave trait is not linked to the fragile X regionREES, M; DIEBOLD, U; PARKER, K et al.Neuropediatrics. 1993, Vol 24, Num 4, pp 211-213, issn 0174-304XArticle

Linkage analysis of infantile pyloric stenosis and markers from chromosome 9q11-q33 : no evidence for a major gene in this candidate regionCHUNG, E; COFFEY, R; PARKER, K et al.Journal of medical genetics. 1993, Vol 30, Num 5, pp 393-395, issn 0022-2593Article

Adult type of neuronal ceroid-lipofuscinosisMARTIN, J.-J.Journal of inherited metabolic disease. 1993, Vol 16, Num 2, pp 237-240, issn 0141-8955Conference Paper

Ceroid, lipofuscin and ther ceroid-lipofuscinoses (batten disease)JOLLY, R. D; DALEFIELD, R. R; PALMER, D. N et al.Journal of inherited metabolic disease. 1993, Vol 16, Num 2, pp 280-283, issn 0141-8955Conference Paper

Movement disorders in neuronal ceroid-lipofuscinosesNAIDU, S.Journal of inherited metabolic disease. 1993, Vol 16, Num 2, pp 256-258, issn 0141-8955Conference Paper