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Neuropediatrics
|
February 1, 1993
A sibship with a neuronal migration defect, cerebellar hypoplasia and congenital lymphedema
J O Hourihane, C P Bennett, R Chaudhuri, et al.
British Journal of Rheumatology
|
December 24, 1997
Pachydermoperiostosis in childhood
G P Sinha, P Curtis, D Haigh, et al.
Journal of Medical Genetics
|
June 1, 1993
Deletion 9p and sex reversal
C P Bennett, Z Docherty, S A Robb, et al.
Human Genetics
|
November 9, 2000
Non-erythroid form of acute intermittent porphyria caused by promoter and frameshift mutations distant from the coding sequence of exon 1 of the HMBS gene
S D Whatley, A G Roberts, D H Llewellyn, et al.
American Journal of Human Genetics
|
January 1, 1995
Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism
K Ezoe, S A Holmes, L Ho, et al.
Journal of Medical Genetics
|
August 10, 2001
A region of homozygosity within 22q11.2 associated with congenital heart disease: recessive DiGeorge/velocardiofacial syndrome?
J Henwood, C Pickard, J P Leek, et al.
Human Molecular Genetics
|
July 7, 2001
Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy
C Toomes, N J Marchbank, D A Mackey, et al.
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of 2
Search research articles
Search
Showing results (11-20 of 17) with videos related to
Sort By:
Page
of 2
You have reached the last page of results.
This site can display upto 17 results.
Neuropediatrics
|
February 1, 1993
A sibship with a neuronal migration defect, cerebellar hypoplasia and congenital lymphedema
J O Hourihane, C P Bennett, R Chaudhuri, et al.
British Journal of Rheumatology
|
December 24, 1997
Pachydermoperiostosis in childhood
G P Sinha, P Curtis, D Haigh, et al.
Journal of Medical Genetics
|
June 1, 1993
Deletion 9p and sex reversal
C P Bennett, Z Docherty, S A Robb, et al.
Human Genetics
|
November 9, 2000
Non-erythroid form of acute intermittent porphyria caused by promoter and frameshift mutations distant from the coding sequence of exon 1 of the HMBS gene
S D Whatley, A G Roberts, D H Llewellyn, et al.
American Journal of Human Genetics
|
January 1, 1995
Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism
K Ezoe, S A Holmes, L Ho, et al.
Journal of Medical Genetics
|
August 10, 2001
A region of homozygosity within 22q11.2 associated with congenital heart disease: recessive DiGeorge/velocardiofacial syndrome?
J Henwood, C Pickard, J P Leek, et al.
Human Molecular Genetics
|
July 7, 2001
Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy
C Toomes, N J Marchbank, D A Mackey, et al.
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of 2