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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.
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.
Journal of Medical Genetics
|
October 4, 2005
Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities
J B Ravnan, J H Tepperberg, P Papenhausen, et al.
Genomics
|
November 20, 1995
LIS2, gene and pseudogene, homologous to LIS1 (lissencephaly 1), located on the short and long arms of chromosome 2
O Reiner, I Bar-Am, T Sapir, et al.
Human Molecular Genetics
|
February 1, 1997
A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3
S S Chong, S D Pack, A V Roschke, et al.
Journal of Medical Genetics
|
January 3, 2001
Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14
P Ungaro, S L Christian, J A Fantes, et al.
American Journal of Human Genetics
|
July 1, 1995
Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients
S L Christian, W P Robinson, B Huang, et al.
Page
of 26
Search research articles
Search
Showing results (171-180 of 251) with videos related to
Sort By:
Page
of 26
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.
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.
Journal of Medical Genetics
|
October 4, 2005
Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities
J B Ravnan, J H Tepperberg, P Papenhausen, et al.
Genomics
|
November 20, 1995
LIS2, gene and pseudogene, homologous to LIS1 (lissencephaly 1), located on the short and long arms of chromosome 2
O Reiner, I Bar-Am, T Sapir, et al.
Human Molecular Genetics
|
February 1, 1997
A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3
S S Chong, S D Pack, A V Roschke, et al.
Journal of Medical Genetics
|
January 3, 2001
Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14
P Ungaro, S L Christian, J A Fantes, et al.
American Journal of Human Genetics
|
July 1, 1995
Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients
S L Christian, W P Robinson, B Huang, et al.
Page
of 26