Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

R F Mueller

Showing results (71-80 of 85) with videos related to

Pageof 9
Sort By:
Clinical Genetics|April 1, 1984
Arteriohepatic dysplasia: phenotypic features and family studiesR F Mueller, R A Pagon, M G Pepin, et al.
Human Molecular Genetics|January 1, 1996
Linkage studies of non-syndromic recessive deafness (NSRD) in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175K A Brown, A H Janjua, G Karbani, et al.
European Journal of Human Genetics : EJHG|February 15, 2001
A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23-q31L J Pulleyn, A P Jackson, E Roberts, et al.
American Journal of Human Genetics|May 1, 1996
A study of FRAXE in mentally retarded individuals referred for fragile X syndrome (FRAXA) testing in the United KingdomS J Knight, R J Ritchie, L Chakrabarti, et al.
American Journal of Human Genetics|March 26, 1999
A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variationX Z Liu, C Hope, C Y Liang, et al.
Journal of Medical Genetics|March 21, 1998
A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2)N J Lench, A F Markham, R F Mueller, et al.
Nature Genetics|November 1, 2001
Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locusE Verpy, S Masmoudi, I Zwaenepoel, et al.
International Journal of Pediatric Otorhinolaryngology|December 22, 1999
Congenital non-syndromal sensorineural hearing impairment due to connexin 26 gene mutations--molecular and audiological findingsR F Mueller, A Nehammer, A Middleton, et al.
Journal of Medical Genetics|January 3, 2001
Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing lossM J Houseman, L A Ellis, A Pagnamenta, et al.
American Journal of Human Genetics|July 31, 1998
Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pterA P Jackson, D P McHale, D A Campbell, et al.
Pageof 9

Showing results (71-80 of 85) with videos related to

Sort By:
Pageof 9
Clinical Genetics|April 1, 1984
Arteriohepatic dysplasia: phenotypic features and family studiesR F Mueller, R A Pagon, M G Pepin, et al.
Human Molecular Genetics|January 1, 1996
Linkage studies of non-syndromic recessive deafness (NSRD) in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175K A Brown, A H Janjua, G Karbani, et al.
European Journal of Human Genetics : EJHG|February 15, 2001
A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23-q31L J Pulleyn, A P Jackson, E Roberts, et al.
American Journal of Human Genetics|May 1, 1996
A study of FRAXE in mentally retarded individuals referred for fragile X syndrome (FRAXA) testing in the United KingdomS J Knight, R J Ritchie, L Chakrabarti, et al.
American Journal of Human Genetics|March 26, 1999
A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variationX Z Liu, C Hope, C Y Liang, et al.
Journal of Medical Genetics|March 21, 1998
A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2)N J Lench, A F Markham, R F Mueller, et al.
Nature Genetics|November 1, 2001
Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locusE Verpy, S Masmoudi, I Zwaenepoel, et al.
International Journal of Pediatric Otorhinolaryngology|December 22, 1999
Congenital non-syndromal sensorineural hearing impairment due to connexin 26 gene mutations--molecular and audiological findingsR F Mueller, A Nehammer, A Middleton, et al.
Journal of Medical Genetics|January 3, 2001
Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing lossM J Houseman, L A Ellis, A Pagnamenta, et al.
American Journal of Human Genetics|July 31, 1998
Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pterA P Jackson, D P McHale, D A Campbell, et al.
Pageof 9