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Human Mutation
|
December 24, 2002
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps
Iris Eisenberg, Gil Grabov-Nardini, Hagit Hochner, et al.
Nature Genetics
|
February 12, 2002
Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene
Tamio Suzuki, Wei Li, Qing Zhang, et al.
The Journal of Pediatrics
|
July 24, 2013
Single-nucleotide polymorphism array-based characterization of ring chromosome 18
Ana Spreiz, Roberta S Guilherme, Claudio Castellan, et al.
American Journal of Medical Genetics. Part A
|
August 19, 2003
Utilization of genetic counseling by parents of a child or fetus with congenital malformation in North-East Italy
Isabella Mammi, Mammi Isabella, Rosaria Teresa Basile, et al.
European Journal of Human Genetics : EJHG
|
January 20, 2005
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
Susanne Kohl, Balazs Varsanyi, Gesine Abadin Antunes, et al.
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of 2
Search research articles
Search
Showing results (11-20 of 15) with videos related to
Sort By:
Page
of 2
You have reached the last page of results.
This site can display upto 15 results.
Human Mutation
|
December 24, 2002
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps
Iris Eisenberg, Gil Grabov-Nardini, Hagit Hochner, et al.
Nature Genetics
|
February 12, 2002
Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene
Tamio Suzuki, Wei Li, Qing Zhang, et al.
The Journal of Pediatrics
|
July 24, 2013
Single-nucleotide polymorphism array-based characterization of ring chromosome 18
Ana Spreiz, Roberta S Guilherme, Claudio Castellan, et al.
American Journal of Medical Genetics. Part A
|
August 19, 2003
Utilization of genetic counseling by parents of a child or fetus with congenital malformation in North-East Italy
Isabella Mammi, Mammi Isabella, Rosaria Teresa Basile, et al.
European Journal of Human Genetics : EJHG
|
January 20, 2005
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
Susanne Kohl, Balazs Varsanyi, Gesine Abadin Antunes, et al.
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of 2