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JL Tolmie

Observed names: J L TOLMIE, J L Tolmie, J Tolmie, J. L Tolmie, J. L. Tolmie, J. Tolmie, J.L. Tolmie
Observed institutions: National Health Service, St George's Hospital, St George's, University of London, Great Ormond Street Hospital, Royal Hospital for Children, Western Infirmary, Southern General Hospital, Royal Hospital for Sick Children, University of Glasgow
OpenAlex ID: A5113566449
PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome
1999 · D. J. Marsh, J. B. Kum, et al. · Human Molecular Genetics · 609
Spondylothoracic and spondylocostal dysostosis. Hereditary forms of spinal deformity
1988 · AP Roberts, AN Conner, et al. · Journal of Bone and Joint Surgery - British Volume · 73
Genetic aspects of early chiidhood scoliosis
1987 · J. M. Connor, A. N. Conner, et al. · American Journal of Medical Genetics · 41
Restrictive dermopathy: a report of three cases.
1990 · Q Mok, R Curley, et al. · Journal of Medical Genetics · 29
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The molecular basis of the folate-sensitive fragile site FRA11A at 11q13
2007 · K. Debacker, B. Winnepenninckx, et al. · Cytogenetic and Genome Research · 27
Do familial neural tube defects breed true?
1991 · E Drainer, H M May, et al. · Journal of Medical Genetics · 26
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The Neu–Laxova syndrome in female sibs: Clinical and pathological features with prenatal diagnosis in the second sib
1987 · J. L. Tolmie, G. Mortimer, et al. · American Journal of Medical Genetics · 21
Clinical and molecular cytogenetic (FISH) diagnosis of Williams syndrome.
1996 · C M Brewer, N Morrison, et al. · Archives of Disease in Childhood · 18
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Spondylocostal dysostosis associated with a 46,XX,+15,dic(6;15)(q25;qll.2) translocation
1997 · Y J CROW, J L TOLMIE, et al. · Clinical Dysmorphology · 16
Pulmonary eosinophilia associated with carbamazepine.
1983 · J Tolmie, C R Steer, et al. · Archives of Disease in Childhood · 11
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A novel pattern of oculocerebral malformation
1997 · B. J Clark, W. R Lee, et al. · British Journal of Ophthalmology · 4
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B56delta-related protein phosphatase 2A dysfunction causes intellectual disability
2015 · Dorien Haesen, Gunnar Houge, et al.
De novo and recurrent missense mutations in the regulatory B56delta and scaffolding Aalpha subunits of protein phosphatase 2A cause a syndromic form of intellectual disability
2014 · Dorien Haesen, Gunnar Houge, et al.
Down Syndrome
2013 · J.L. Tolmie · Elsevier eBooks
Down Syndrome
2001 · J.L. Tolmie · Encyclopedia of Genetics
Identification of mutations in a trans-acting factor with different effects on alpha and beta globin expression.
2000 · Vip Viprakasit, Richard J. Gibbons, et al. · UCL Discovery (University College London)
Works count: 16
Citation count: 875
H-index: 10
I10-index: 10
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