Search research articles
Contact Us
Filters
Showing results (11-20 of 42) with videos related to
Page
of 5
Sort By:
Journal of Medical Genetics
|
May 23, 1998
Trisomy 2q11.2-->q21.1 resulting from an unbalanced insertion in two generations
I A Glass, P Stormer, P T Oei, et al.
Neurogenetics
|
August 3, 2005
Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures
C L Bennett, H M Huynh, P F Chance, et al.
American Journal of Medical Genetics
|
June 22, 2000
Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature
T Roscioli, S Flanagan, P Kumar, et al.
Molecular Genetics and Metabolism
|
October 27, 1998
Congenital erythropoietic porphyria: prolonged high-level expression and correction of the heme biosynthetic defect by retroviral-mediated gene transfer into porphyric and erythroid cells
R Kauppinen, I A Glass, G Aizencang, et al.
Prenatal Diagnosis
|
September 22, 1998
Steroid sulphatase deficiency is the major cause of extremely low oestriol production at mid-pregnancy: a urinary steroid assay for the discrimination of steroid sulphatase deficiency from other causes
I A Glass, R C Lam, T Chang, et al.
Clinical Endocrinology
|
May 31, 2002
Trisomy of the short stature homeobox-containing gene (SHOX), resulting from a duplication-deletion of the X chromosome
K A Adamson, I Cross, J A Batch, et al.
American Journal of Medical Genetics
|
February 1, 1991
Linkage analysis in a large family with nonspecific X-linked mental retardation
I A Glass, E M White, M J Pope, et al.
Annales De Genetique
|
January 1, 1997
Mosaic trisomy 14 with hepatic involvement
A Iglesias, L D McCurdy, I A Glass, et al.
Human Genetics
|
May 1, 1996
Generation of sequence-tagged sites from Xp22.3 by isolating common Alu-PCR products of radiation hybrids retaining overlapping human X chromosome fragments
I A Glass, M Passage, L Bernatowicz, et al.
Prenatal Diagnosis
|
August 22, 2000
Prenatal diagnosis of dominant dystrophic epidermolysis bullosa, by COL7A1 molecular analysis
S Klingberg, R Mortimore, J Parkes, et al.
Page
of 5
Search research articles
Search
Showing results (11-20 of 42) with videos related to
Sort By:
Page
of 5
Journal of Medical Genetics
|
May 23, 1998
Trisomy 2q11.2-->q21.1 resulting from an unbalanced insertion in two generations
I A Glass, P Stormer, P T Oei, et al.
Neurogenetics
|
August 3, 2005
Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures
C L Bennett, H M Huynh, P F Chance, et al.
American Journal of Medical Genetics
|
June 22, 2000
Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature
T Roscioli, S Flanagan, P Kumar, et al.
Molecular Genetics and Metabolism
|
October 27, 1998
Congenital erythropoietic porphyria: prolonged high-level expression and correction of the heme biosynthetic defect by retroviral-mediated gene transfer into porphyric and erythroid cells
R Kauppinen, I A Glass, G Aizencang, et al.
Prenatal Diagnosis
|
September 22, 1998
Steroid sulphatase deficiency is the major cause of extremely low oestriol production at mid-pregnancy: a urinary steroid assay for the discrimination of steroid sulphatase deficiency from other causes
I A Glass, R C Lam, T Chang, et al.
Clinical Endocrinology
|
May 31, 2002
Trisomy of the short stature homeobox-containing gene (SHOX), resulting from a duplication-deletion of the X chromosome
K A Adamson, I Cross, J A Batch, et al.
American Journal of Medical Genetics
|
February 1, 1991
Linkage analysis in a large family with nonspecific X-linked mental retardation
I A Glass, E M White, M J Pope, et al.
Annales De Genetique
|
January 1, 1997
Mosaic trisomy 14 with hepatic involvement
A Iglesias, L D McCurdy, I A Glass, et al.
Human Genetics
|
May 1, 1996
Generation of sequence-tagged sites from Xp22.3 by isolating common Alu-PCR products of radiation hybrids retaining overlapping human X chromosome fragments
I A Glass, M Passage, L Bernatowicz, et al.
Prenatal Diagnosis
|
August 22, 2000
Prenatal diagnosis of dominant dystrophic epidermolysis bullosa, by COL7A1 molecular analysis
S Klingberg, R Mortimore, J Parkes, et al.
Page
of 5