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R F Mueller

Showing results (51-60 of 85) with videos related to

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The Journal of Urology|January 17, 2002
A family study and the natural history of prenatally detected unilateral multicystic dysplastic kidneyR A Belk, D F M Thomas, R F Mueller, et al.
Journal of Medical Genetics|August 3, 2001
A novel mutation in a family with non-syndromic sensorineural hearing loss that disrupts the newly characterised OTOF long isoformsM J Houseman, A P Jackson, L I Al-Gazali, et al.
Journal of Medical Genetics|January 1, 1990
Polymerase chain reaction (PCR) on fixed necropsy materialR F Mueller, G R Taylor, A D Stewart, et al.
Journal of Medical Genetics|January 1, 1990
Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3L I al-Gazali, R F Mueller, A Caine, et al.
Journal of Medical Genetics|August 1, 1997
Genetic heterogeneity in Schwartz-Jampel syndrome: two families with neonatal Schwartz-Jampel syndrome do not map to human chromosome 1p34-p36.1K A Brown, L I al-Gazali, L M Moynihan, et al.
Journal of Medical Genetics|May 1, 1995
Linkage analysis of a large pedigree with hereditary sideroblastic anaemiaJ S Noble, G R Taylor, M S Losowsky, et al.
American Journal of Human Genetics|May 23, 1998
A syndrome of severe mental retardation, spasticity, and tapetoretinal degeneration linked to chromosome 15q24S J Mitchell, D P McHale, D A Campbell, et al.
Nature|May 1, 1997
Connexin 26 mutations in hereditary non-syndromic sensorineural deafnessD P Kelsell, J Dunlop, H P Stevens, et al.
American Journal of Human Genetics|May 23, 1998
Autozygosity mapping, to chromosome 11q25, of a rare autosomal recessive syndrome causing histiocytosis, joint contractures, and sensorineural deafnessL M Moynihan, S E Bundey, D Heath, et al.
European Journal of Human Genetics : EJHG|May 30, 2001
Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunctionT P Hutchin, N C Navarro-Coy, G Van Camp, et al.
Pageof 9

Showing results (51-60 of 85) with videos related to

Sort By:
Pageof 9
The Journal of Urology|January 17, 2002
A family study and the natural history of prenatally detected unilateral multicystic dysplastic kidneyR A Belk, D F M Thomas, R F Mueller, et al.
Journal of Medical Genetics|August 3, 2001
A novel mutation in a family with non-syndromic sensorineural hearing loss that disrupts the newly characterised OTOF long isoformsM J Houseman, A P Jackson, L I Al-Gazali, et al.
Journal of Medical Genetics|January 1, 1990
Polymerase chain reaction (PCR) on fixed necropsy materialR F Mueller, G R Taylor, A D Stewart, et al.
Journal of Medical Genetics|January 1, 1990
Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3L I al-Gazali, R F Mueller, A Caine, et al.
Journal of Medical Genetics|August 1, 1997
Genetic heterogeneity in Schwartz-Jampel syndrome: two families with neonatal Schwartz-Jampel syndrome do not map to human chromosome 1p34-p36.1K A Brown, L I al-Gazali, L M Moynihan, et al.
Journal of Medical Genetics|May 1, 1995
Linkage analysis of a large pedigree with hereditary sideroblastic anaemiaJ S Noble, G R Taylor, M S Losowsky, et al.
American Journal of Human Genetics|May 23, 1998
A syndrome of severe mental retardation, spasticity, and tapetoretinal degeneration linked to chromosome 15q24S J Mitchell, D P McHale, D A Campbell, et al.
Nature|May 1, 1997
Connexin 26 mutations in hereditary non-syndromic sensorineural deafnessD P Kelsell, J Dunlop, H P Stevens, et al.
American Journal of Human Genetics|May 23, 1998
Autozygosity mapping, to chromosome 11q25, of a rare autosomal recessive syndrome causing histiocytosis, joint contractures, and sensorineural deafnessL M Moynihan, S E Bundey, D Heath, et al.
European Journal of Human Genetics : EJHG|May 30, 2001
Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunctionT P Hutchin, N C Navarro-Coy, G Van Camp, et al.
Pageof 9