Published in Stroke on January 01, 1996
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Severe acrofacial dysostosis with orofacial clefting and tetraphocomelia diagnosed in the plaster cast of a 100-year-old anatomical specimen. Am J Med Genet (1998) 1.39
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Macrocephaly with cutis marmorata, haemangioma and syndactyly--a distinctive overgrowth syndrome. Clin Dysmorphol (1997) 1.33
Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature. Br J Ophthalmol (2000) 1.27
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Measuring quality of life in stroke. Stroke (1993) 1.24
Calcium antagonists for ischemic stroke: a systematic review. Stroke (2001) 1.24
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Length of hospital stay and discharge delays in stroke patients. Stroke (1997) 1.19
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A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies. Hum Mol Genet (1999) 1.17
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Quantitative assessment of dural ectasia as a marker for Marfan syndrome. Radiology (2001) 1.15
The role of cognitive impairment in the quality of life after ischaemic stroke. J Neurol (1996) 1.15
Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene. Hum Mol Genet (1996) 1.13
Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19. Am J Hum Genet (1998) 1.13
Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3. Am J Hum Genet (1993) 1.12
Rubinstein-Taybi syndrome caused by a De Novo reciprocal translocation t(2;16)(q36.3;p13.3). Am J Med Genet (2000) 1.11
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Mental retardation, "coarse" face, and hyperbreathing: confirmation of the Pitt-Hopkins syndrome. Am J Med Genet (1998) 1.07
Marfan syndrome in children and adolescents: an adjusted nomogram for screening aortic root dilatation. Heart (1998) 1.07
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Impairment of cerebrovascular reactivity in long-term type 1 diabetes. Diabetes (1997) 1.03
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Assessment of burden in partners of stroke patients with the sense of competence questionnaire. Stroke (1998) 1.01
Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. II: Skeletal dysplasias. Am J Med Genet (1998) 1.00
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Very Early Nimodipine Use in Stroke (VENUS): a randomized, double-blind, placebo-controlled trial. Stroke (2001) 0.99
Use of health care services after stroke. Qual Health Care (1993) 0.99
Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts. Am J Hum Genet (1997) 0.98
Dermal eccrine cylindromatosis. J Med Genet (1994) 0.97
Angelman syndrome without detectable chromosome 15q11-13 anomaly: clinical study of familial and isolated cases. Am J Med Genet (1998) 0.97
A stroke-adapted 30-item version of the Sickness Impact Profile to assess quality of life (SA-SIP30). Stroke (1997) 0.97
Tandem duplication of 11p12-p13 in a child with borderline development delay and eye abnormalities: dose effect of the PAX6 gene product? Am J Med Genet (1997) 0.96
Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. I: Syndromes with multiple congenital anomalies. Am J Med Genet (1998) 0.95
Risk factors for falls of hospitalized stroke patients. Stroke (1997) 0.95
Prevalence of symptomatic intracranial aneurysm and ischaemic stroke in pseudoxanthoma elasticum. Cerebrovasc Dis (2000) 0.94
Multimodal imaging in the congenital pulmonary lymphangiectasia-congenital chylothorax-hydrops fetalis continuum. Lymphology (2004) 0.94
Genome-wide linkage in a large Dutch consanguineous family maps a locus for intracranial aneurysms to chromosome 2p13. Stroke (2004) 0.94
Chromosomal localisation of the Rubinstein-Taybi syndrome? Am J Med Genet (1991) 0.94
Growth in the Rubinstein-Taybi syndrome. Am J Med Genet Suppl (1990) 0.94
A one-year follow-up study into the course of depression after stroke. J Nutr Health Aging (2010) 0.94
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Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome. Ann Hum Genet (2001) 0.93
Associations between chromosomal anomalies and congenital heart defects: a database search. Am J Med Genet (1999) 0.93
Maternal isodisomy for chromosome 2p causing severe congenital hypothyroidism. J Clin Endocrinol Metab (2001) 0.92
The role of type III collagen in spontaneous cervical arterial dissections. Ann Neurol (1998) 0.92
Oculoauriculovertebral spectrum and cerebral anomalies. J Med Genet (1992) 0.90
Intrathoracic chemodectoma with multiple localisations. Thorax (1977) 0.90
EEC syndrome and genitourinary anomalies: an update. Am J Med Genet (1996) 0.89
Brachmann-de Lange syndrome "avant la lettre". Am J Med Genet (1994) 0.89
Interstitial deletion of the long arm of chromosome 2: a clinically recognizable microdeletion syndrome? Clin Dysmorphol (2000) 0.89
Patients' satisfaction with care after stroke: relation with characteristics of patients and care. Qual Health Care (1996) 0.88
Evidence-based re-engineering: re-engineering the evidence--a systematic review of the literature on business process redesign (BPR) in hospital care. Int J Health Care Qual Assur Inc Leadersh Health Serv (2006) 0.88
Clinical meaning of the Stroke-Adapted Sickness Impact Profile-30 and the Sickness Impact Profile-136. Stroke (2000) 0.87
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Hemi-hydranencephaly with favourable outcome. Dev Med Child Neurol (1992) 0.87