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Human Molecular Genetics
|
August 11, 1999
Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1
D T Pilz, J Kuc, N Matsumoto, et al.
American Journal of Human Genetics
|
April 1, 1990
Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17
P I Patel, B Franco, C Garcia, et al.
American Journal of Ophthalmology
|
September 1, 1982
Oculocutaneous albinoidism as a manifestation of reduced neural crest derivatives in the Prader-Willi syndrome
H M Hittner, R A King, V M Riccardi, et al.
Prenatal Diagnosis
|
November 1, 1996
Prenatal diagnosis of an infant with mosaic trisomy 16 of paternal origin
K J Paulyson, D M Sherer, S L Christian, et al.
Cytogenetics and Cell Genetics
|
January 1, 1991
Localization of histidase to human chromosome region 12q22----q24.1 and mouse chromosome region 10C2----D1
R G Taylor, J García-Heras, S J Sadler, et al.
American Journal of Human Genetics
|
August 1, 1995
A new dinucleotide repeat polymorphism at the telomere of chromosome 21q reveals a significant difference between male and female rates of recombination
J L Blouin, D H Christie, A Gos, et al.
American Journal of Medical Genetics
|
December 2, 1996
Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome
T Kubota, J S Sutcliffe, S Aradhya, et al.
American Journal of Medical Genetics
|
April 11, 2000
Inverted duplication of the distal short arm of chromosome 3 associated with lobar holoprosencephaly and lumbosacral meningomyelocele
D Kennedy, M M Silver, E J Winsor, et al.
Human Genetics
|
January 1, 1997
Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes
B Huang, J A Crolla, S L Christian, et al.
The Journal of Pediatrics
|
January 8, 1999
Significance of genetic testing for paternal uniparental disomy of chromosome 6 in neonatal diabetes mellitus
S L Christian, B H Rich, C Loebl, et al.
Page
of 39
Search research articles
Search
Showing results (211-220 of 388) with videos related to
Sort By:
Page
of 39
Human Molecular Genetics
|
August 11, 1999
Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1
D T Pilz, J Kuc, N Matsumoto, et al.
American Journal of Human Genetics
|
April 1, 1990
Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17
P I Patel, B Franco, C Garcia, et al.
American Journal of Ophthalmology
|
September 1, 1982
Oculocutaneous albinoidism as a manifestation of reduced neural crest derivatives in the Prader-Willi syndrome
H M Hittner, R A King, V M Riccardi, et al.
Prenatal Diagnosis
|
November 1, 1996
Prenatal diagnosis of an infant with mosaic trisomy 16 of paternal origin
K J Paulyson, D M Sherer, S L Christian, et al.
Cytogenetics and Cell Genetics
|
January 1, 1991
Localization of histidase to human chromosome region 12q22----q24.1 and mouse chromosome region 10C2----D1
R G Taylor, J García-Heras, S J Sadler, et al.
American Journal of Human Genetics
|
August 1, 1995
A new dinucleotide repeat polymorphism at the telomere of chromosome 21q reveals a significant difference between male and female rates of recombination
J L Blouin, D H Christie, A Gos, et al.
American Journal of Medical Genetics
|
December 2, 1996
Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome
T Kubota, J S Sutcliffe, S Aradhya, et al.
American Journal of Medical Genetics
|
April 11, 2000
Inverted duplication of the distal short arm of chromosome 3 associated with lobar holoprosencephaly and lumbosacral meningomyelocele
D Kennedy, M M Silver, E J Winsor, et al.
Human Genetics
|
January 1, 1997
Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes
B Huang, J A Crolla, S L Christian, et al.
The Journal of Pediatrics
|
January 8, 1999
Significance of genetic testing for paternal uniparental disomy of chromosome 6 in neonatal diabetes mellitus
S L Christian, B H Rich, C Loebl, et al.
Page
of 39