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Journal of Medical Genetics
|
February 25, 1998
Atelosteogenesis type 2
R Newbury-Ecob
Pediatric Dermatology
|
June 26, 1999
What syndrome is this? Macrocephaly with cutis marmorata, hemangioma, and syndactyly syndrome
D L Moffitt, C T Kennedy, R Newbury-Ecob
Clinical Dysmorphology
|
July 12, 2001
3-Hydroxyisobutyric aciduria: phenotypic heterogeneity within a single family
J P Shield, R Gough, J Allen, et al.
The British Journal of Ophthalmology
|
December 1, 1993
Manifesting heterozygosity in Norrie's disease?
G Woodruff, R Newbury-Ecob, D S Plaha, et al.
BJOG : an International Journal of Obstetrics and Gynaecology
|
June 28, 2001
The role of comparative genomic hybridisation in prenatal diagnosis
A Thein, A Charles, T Davies, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
September 29, 2000
Mesenteric angina complicating a mesodermal anomaly
R Howells, A Curran, P Jardine, et al.
The British Journal of Ophthalmology
|
January 1, 1994
Congenital hereditary endothelial dystrophy associated with nail hypoplasia
R Stirling, J Pitts, N R Galloway, et al.
Archives of Disease in Childhood
|
February 24, 2001
Pancreatic dysfunction in severe obesity
A J Drake, L Greenhalgh, R Newbury-Ecob, et al.
Journal of Medical Genetics
|
July 5, 2003
Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy
J Kohlhase, L Schubert, M Liebers, et al.
Cytogenetic and Genome Research
|
May 21, 2005
Inherited pericentric inversion (X)(p11.4q11.2) associated with delayed puberty and obesity in two brothers
R Talaban, G S Sellick, H E Spendlove, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 17) with videos related to
Sort By:
Page
of 2
Journal of Medical Genetics
|
February 25, 1998
Atelosteogenesis type 2
R Newbury-Ecob
Pediatric Dermatology
|
June 26, 1999
What syndrome is this? Macrocephaly with cutis marmorata, hemangioma, and syndactyly syndrome
D L Moffitt, C T Kennedy, R Newbury-Ecob
Clinical Dysmorphology
|
July 12, 2001
3-Hydroxyisobutyric aciduria: phenotypic heterogeneity within a single family
J P Shield, R Gough, J Allen, et al.
The British Journal of Ophthalmology
|
December 1, 1993
Manifesting heterozygosity in Norrie's disease?
G Woodruff, R Newbury-Ecob, D S Plaha, et al.
BJOG : an International Journal of Obstetrics and Gynaecology
|
June 28, 2001
The role of comparative genomic hybridisation in prenatal diagnosis
A Thein, A Charles, T Davies, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
September 29, 2000
Mesenteric angina complicating a mesodermal anomaly
R Howells, A Curran, P Jardine, et al.
The British Journal of Ophthalmology
|
January 1, 1994
Congenital hereditary endothelial dystrophy associated with nail hypoplasia
R Stirling, J Pitts, N R Galloway, et al.
Archives of Disease in Childhood
|
February 24, 2001
Pancreatic dysfunction in severe obesity
A J Drake, L Greenhalgh, R Newbury-Ecob, et al.
Journal of Medical Genetics
|
July 5, 2003
Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy
J Kohlhase, L Schubert, M Liebers, et al.
Cytogenetic and Genome Research
|
May 21, 2005
Inherited pericentric inversion (X)(p11.4q11.2) associated with delayed puberty and obesity in two brothers
R Talaban, G S Sellick, H E Spendlove, et al.
Page
of 2