-
1
-
-
0036265207
-
Understanding neurodegenerative disorders
-
Surtees R. Understanding neurodegenerative disorders. Curr Paediatr 12 (2006) 191-198
-
(2006)
Curr Paediatr
, vol.12
, pp. 191-198
-
-
Surtees, R.1
-
2
-
-
0030593190
-
Prevalence of spina bifida at birth - United States, 1983-1990: a comparison of two surveillance systems
-
Lary J.M., and Edmonds L.D. Prevalence of spina bifida at birth - United States, 1983-1990: a comparison of two surveillance systems. MMWR CDC Surveill Summ 45 (1996) 15-26
-
(1996)
MMWR CDC Surveill Summ
, vol.45
, pp. 15-26
-
-
Lary, J.M.1
Edmonds, L.D.2
-
3
-
-
20544476483
-
Hydrocephalus prevalence and outcome in a population-based cohort of children born in 1989-1998
-
Persson E.K., Hagberg G., and Uvebrant P. Hydrocephalus prevalence and outcome in a population-based cohort of children born in 1989-1998. Acta Paediatr 94 (2005) 726-732
-
(2005)
Acta Paediatr
, vol.94
, pp. 726-732
-
-
Persson, E.K.1
Hagberg, G.2
Uvebrant, P.3
-
4
-
-
0036300797
-
The doctor's dilemma: challenges for the primary care physician caring for the child with special health care needs
-
Davidson E.J., Silva T.J., Sofis L.A., Ganz M.L., and Palfrey J.S. The doctor's dilemma: challenges for the primary care physician caring for the child with special health care needs. Ambul Pediatr 2 (2002) 218-223
-
(2002)
Ambul Pediatr
, vol.2
, pp. 218-223
-
-
Davidson, E.J.1
Silva, T.J.2
Sofis, L.A.3
Ganz, M.L.4
Palfrey, J.S.5
-
5
-
-
0030310235
-
Living with dying: families coping with a child who has a neurodegenerative genetic disorder
-
Davies H. Living with dying: families coping with a child who has a neurodegenerative genetic disorder. Axone 18 (1996) 38-44
-
(1996)
Axone
, vol.18
, pp. 38-44
-
-
Davies, H.1
-
6
-
-
0031116745
-
Caring for a child with a progressive illness during the complex chronic phase: parents' experience of facing adversity
-
Gravelle A.M. Caring for a child with a progressive illness during the complex chronic phase: parents' experience of facing adversity. J Adv Nurs 25 (1997) 738-745
-
(1997)
J Adv Nurs
, vol.25
, pp. 738-745
-
-
Gravelle, A.M.1
-
7
-
-
38349037597
-
Mortality in childhood progressive encephalopathy from 1985 to 2004 in Oslo, Norway: a population-based study
-
Stromme P., Magnus P., Kanavin O.J., et al. Mortality in childhood progressive encephalopathy from 1985 to 2004 in Oslo, Norway: a population-based study. Acta Paediatr. 97 (2008) 35-40
-
(2008)
Acta Paediatr.
, vol.97
, pp. 35-40
-
-
Stromme, P.1
Magnus, P.2
Kanavin, O.J.3
-
8
-
-
34447521351
-
Incidence rates of progressive childhood encephalopathies in Oslo, Norway: a population based study
-
Stromme P., Kanavin O.J., Abdelnoor M., et al. Incidence rates of progressive childhood encephalopathies in Oslo, Norway: a population based study. BMC Pediatr 7 (2007) 25
-
(2007)
BMC Pediatr
, vol.7
, pp. 25
-
-
Stromme, P.1
Kanavin, O.J.2
Abdelnoor, M.3
-
9
-
-
0026726740
-
The epidemiology of progressive encephalopathies in childhood. I. Live birth prevalence in west Sweden
-
Uvebrant P., Lanneskog K., and Hagberg B. The epidemiology of progressive encephalopathies in childhood. I. Live birth prevalence in west Sweden. Neuropediatrics 23 (1992) 209-211
-
(1992)
Neuropediatrics
, vol.23
, pp. 209-211
-
-
Uvebrant, P.1
Lanneskog, K.2
Hagberg, B.3
-
10
-
-
84900064683
-
Concepts of immigration in population statistics: Western and non-Western - words that became too big and outdated
-
Hoydahl. Concepts of immigration in population statistics: Western and non-Western - words that became too big and outdated. Samfunnsspeilet 22 (2008) 66-69
-
(2008)
Samfunnsspeilet
, vol.22
, pp. 66-69
-
-
Hoydahl1
-
12
-
-
0344677188
-
The prevalence and demographic characteristics of consanguineous marriages in Pakistan
-
Hussain R., and Bittles A.H. The prevalence and demographic characteristics of consanguineous marriages in Pakistan. J Biosoc Sci 30 (1998) 261-275
-
(1998)
J Biosoc Sci
, vol.30
, pp. 261-275
-
-
Hussain, R.1
Bittles, A.H.2
-
13
-
-
75349100945
-
Inngifte i Norge: omfang og medisinske konsekvenser
-
[in Norwegian with English summary], Nasjonalt folkehelseinstitutt, Oslo
-
Suren P., Grjibovsky A., and Stoltenberg C. Inngifte i Norge: omfang og medisinske konsekvenser. [in Norwegian with English summary]. Consanguineous marriage in Norway: prevalence and medical consequences vol. 2 (2007), Nasjonalt folkehelseinstitutt, Oslo
-
(2007)
Consanguineous marriage in Norway: prevalence and medical consequences
, vol.2
-
-
Suren, P.1
Grjibovsky, A.2
Stoltenberg, C.3
-
14
-
-
0031057742
-
Birth defects and parental consanguinity in Norway
-
Stoltenberg C., Magnus P., Lie R.T., Daltveit A.K., and Irgens L.M. Birth defects and parental consanguinity in Norway. Am J Epidemiol 145 (1997) 439-448
-
(1997)
Am J Epidemiol
, vol.145
, pp. 439-448
-
-
Stoltenberg, C.1
Magnus, P.2
Lie, R.T.3
Daltveit, A.K.4
Irgens, L.M.5
-
16
-
-
0002854163
-
Chapter 1: genetics, biochemistry, and molecular bases of variant human phenotypes
-
MacGraw-Hill, New York
-
Beaudet A.L., Scriver C.R., Sly W.S., Valle D., and Childs B. Chapter 1: genetics, biochemistry, and molecular bases of variant human phenotypes. The online metabolic and molecular bases of inherited disease (2008), MacGraw-Hill, New York 1-16
-
(2008)
The online metabolic and molecular bases of inherited disease
, pp. 1-16
-
-
Beaudet, A.L.1
Scriver, C.R.2
Sly, W.S.3
Valle, D.4
Childs, B.5
-
18
-
-
0034866964
-
Consanguinity and its relevance to clinical genetics
-
Bittles A.H. Consanguinity and its relevance to clinical genetics. Clin Genet 60 (2001) 89-98
-
(2001)
Clin Genet
, vol.60
, pp. 89-98
-
-
Bittles, A.H.1
-
19
-
-
0033980248
-
Clinical characteristics of children with cerebral white matter abnormalities
-
Kristjansdottir R., Uvebrant P., and Wiklund L.M. Clinical characteristics of children with cerebral white matter abnormalities. Eur J Paediatr Neurol 4 (2000) 17-26
-
(2000)
Eur J Paediatr Neurol
, vol.4
, pp. 17-26
-
-
Kristjansdottir, R.1
Uvebrant, P.2
Wiklund, L.M.3
-
20
-
-
33645770669
-
Microphthalmia and brain atrophy: a novel neurodegenerative disease
-
Kanavin O.J., Haakonsen M., Server A., et al. Microphthalmia and brain atrophy: a novel neurodegenerative disease. Ann Neurol 59 (2006) 719-723
-
(2006)
Ann Neurol
, vol.59
, pp. 719-723
-
-
Kanavin, O.J.1
Haakonsen, M.2
Server, A.3
-
21
-
-
34247093997
-
A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome
-
Kleppa L., Kanavin O.J., Klungland A., and Stromme P. A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome. Neuroscience (2006)
-
(2006)
Neuroscience
-
-
Kleppa, L.1
Kanavin, O.J.2
Klungland, A.3
Stromme, P.4
-
22
-
-
33745079623
-
Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis
-
Siintola E., Partanen S., Stromme P., et al. Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis. Brain 129 (2006) 1438-1445
-
(2006)
Brain
, vol.129
, pp. 1438-1445
-
-
Siintola, E.1
Partanen, S.2
Stromme, P.3
-
23
-
-
44949172514
-
2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report
-
Kanavin O.J., Woldseth B., Jellum E., et al. 2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report. J Med Case Reports 1 (2007) 98
-
(2007)
J Med Case Reports
, vol.1
, pp. 98
-
-
Kanavin, O.J.1
Woldseth, B.2
Jellum, E.3
-
24
-
-
50249105336
-
Niemann-Pick disease type C2 presenting as fatal pulmonary alveolar lipoproteinosis: morphological findings in lung and nervous tissue
-
Bjurulf B., Spetalen S., Erichsen A., et al. Niemann-Pick disease type C2 presenting as fatal pulmonary alveolar lipoproteinosis: morphological findings in lung and nervous tissue. Med Sci Monit 14 (2008) CS71-75
-
(2008)
Med Sci Monit
, vol.14
-
-
Bjurulf, B.1
Spetalen, S.2
Erichsen, A.3
-
25
-
-
75349085071
-
-
Available at: [accessed 2008]
-
Epi Info. Available at:. http://www.cdc.gov/epiinfo/ [accessed 2008]
-
-
-
Epi Info1
-
28
-
-
0000168079
-
Introduction to categorical statistics
-
Lippincott-Raven
-
Greenland S., Rothman D.L., and Rothman K.J. Introduction to categorical statistics. Modern epidemiology vol. 2 (1998), Lippincott-Raven 231-252
-
(1998)
Modern epidemiology
, vol.2
, pp. 231-252
-
-
Greenland, S.1
Rothman, D.L.2
Rothman, K.J.3
-
30
-
-
0004129360
-
-
Little, Brown, Boston
-
Hennekens C.H., Buring J.E., and Mayrent S.L. Epidemiology in medicine (1987), Little, Brown, Boston
-
(1987)
Epidemiology in medicine
-
-
Hennekens, C.H.1
Buring, J.E.2
Mayrent, S.L.3
-
31
-
-
17244381972
-
Endogamy, consanguinity and community disease profiles
-
Bittles A.H. Endogamy, consanguinity and community disease profiles. Community Genet 8 (2005) 17-20
-
(2005)
Community Genet
, vol.8
, pp. 17-20
-
-
Bittles, A.H.1
-
33
-
-
38649117937
-
Adjusting for founder relatedness in a linkage analysis using prior information
-
Sheehan N.A., and Egeland T. Adjusting for founder relatedness in a linkage analysis using prior information. Hum Hered 65 (2008) 221-231
-
(2008)
Hum Hered
, vol.65
, pp. 221-231
-
-
Sheehan, N.A.1
Egeland, T.2
-
34
-
-
75349104676
-
-
Available at: [accessed 2008]
-
Financial social assistance. Available at:. http://www.regjeringen.no/en/dep/aid/Topics/Welfare-policy/Okonomisk_sosialhjelp.html?id=86000 [accessed 2008]
-
Financial social assistance
-
-
-
35
-
-
75349096676
-
-
Available at: [accessed 2008]
-
The Norwegian Social Insurance Scheme. Available at: (2008). http://www.regjeringen.no/en/dep/aid/doc/veiledninger_brosjyrer/2008/the-norwegian-social-insurance-scheme-20.html?id=507092 [accessed 2008]
-
(2008)
-
-
The Norwegian Social Insurance Scheme1
-
36
-
-
27644527305
-
Developmental delay: when to suspect and how to investigate for an inborn error of metabolism
-
Cleary M.A., and Green A. Developmental delay: when to suspect and how to investigate for an inborn error of metabolism. Arch Dis Child 90 (2005) 1128-1132
-
(2005)
Arch Dis Child
, vol.90
, pp. 1128-1132
-
-
Cleary, M.A.1
Green, A.2
-
37
-
-
0036328731
-
Disability in children from different ethnic populations
-
Morton R., Sharma V., Nicholson J., Broderick M., and Poyser J. Disability in children from different ethnic populations. Child Care Health Dev 28 (2002) 87-93
-
(2002)
Child Care Health Dev
, vol.28
, pp. 87-93
-
-
Morton, R.1
Sharma, V.2
Nicholson, J.3
Broderick, M.4
Poyser, J.5
-
38
-
-
0036220093
-
Inborn errors of metabolism in the Italian pediatric population: a national retrospective survey
-
Dionisi-Vici C., Rizzo C., Burlina A.B., et al. Inborn errors of metabolism in the Italian pediatric population: a national retrospective survey. J Pediatr 140 (2002) 321-327
-
(2002)
J Pediatr
, vol.140
, pp. 321-327
-
-
Dionisi-Vici, C.1
Rizzo, C.2
Burlina, A.B.3
-
40
-
-
1642499253
-
Variations in neurodegenerative disease across the UK: findings from the national study of progressive intellectual and neurological deterioration (PIND)
-
Devereux G., Stellitano L., Verity C.M., et al. Variations in neurodegenerative disease across the UK: findings from the national study of progressive intellectual and neurological deterioration (PIND). Arch Dis Child 89 (2004) 8-12
-
(2004)
Arch Dis Child
, vol.89
, pp. 8-12
-
-
Devereux, G.1
Stellitano, L.2
Verity, C.M.3
-
41
-
-
0031947739
-
A comparison of disease and gene frequencies of inborn errors of metabolism among different ethnic groups in the West Midlands, UK
-
Hutchesson A.C., Bundey S., Preece M.A., Hall S.K., and Green A. A comparison of disease and gene frequencies of inborn errors of metabolism among different ethnic groups in the West Midlands, UK. J Med Genet 35 (1998) 366-370
-
(1998)
J Med Genet
, vol.35
, pp. 366-370
-
-
Hutchesson, A.C.1
Bundey, S.2
Preece, M.A.3
Hall, S.K.4
Green, A.5
-
42
-
-
0027831539
-
A five-year prospective study of the health of children in different ethnic groups, with particular reference to the effect of inbreeding
-
Bundey S., and Alam H. A five-year prospective study of the health of children in different ethnic groups, with particular reference to the effect of inbreeding. Eur J Hum Genet 1 (1993) 206-219
-
(1993)
Eur J Hum Genet
, vol.1
, pp. 206-219
-
-
Bundey, S.1
Alam, H.2
|