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Human Mutation
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April 1, 2006
Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate
D M Warthen, E C Moore, B M Kamath, et al.
Nature Genetics
|
February 14, 1998
GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier
G Seidner, M G Alvarez, J I Yeh, et al.
Genome Research
|
February 1, 1997
Cloning and characterization of two vertebrate homologs of the Drosophila eyes absent gene
J E Zimmerman, Q T Bui, E Steingrímsson, et al.
Nature Genetics
|
July 1, 1997
Mutations in the human Jagged1 gene are responsible for Alagille syndrome
T Oda, A G Elkahloun, B L Pike, et al.
American Journal of Medical Genetics
|
September 15, 1992
Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome
D A Driscoll, N B Spinner, M L Budarf, et al.
Calcified Tissue International
|
August 14, 1998
The human bone morphogenetic protein 4 (BMP-4) gene: molecular structure and transcriptional regulation
E M Shore, M Xu, P B Shah, et al.
Blood
|
January 7, 1998
Panhandle polymerase chain reaction amplifies MLL genomic translocation breakpoint involving unknown partner gene
C A Felix, C S Kim, M D Megonigal, et al.
American Journal of Human Genetics
|
May 29, 2000
Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome
M E Hodes, K Woodward, N B Spinner, et al.
Molecular Diagnosis : a Journal Devoted to the Understanding of Human Disease Through the Clinical Application of Molecular Biology
|
February 15, 2000
Duplicated regions of AF-4 intron 4 at t(4;11) translocation breakpoints
C A Felix, M R Hosler, D J Slater, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 3, 2001
Down syndrome congenital heart disease: a narrowed region and a candidate gene
G M Barlow, X N Chen, Z Y Shi, et al.
Page
of 7
Search research articles
Search
Showing results (51-60 of 63) with videos related to
Sort By:
Page
of 7
Human Mutation
|
April 1, 2006
Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate
D M Warthen, E C Moore, B M Kamath, et al.
Nature Genetics
|
February 14, 1998
GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier
G Seidner, M G Alvarez, J I Yeh, et al.
Genome Research
|
February 1, 1997
Cloning and characterization of two vertebrate homologs of the Drosophila eyes absent gene
J E Zimmerman, Q T Bui, E Steingrímsson, et al.
Nature Genetics
|
July 1, 1997
Mutations in the human Jagged1 gene are responsible for Alagille syndrome
T Oda, A G Elkahloun, B L Pike, et al.
American Journal of Medical Genetics
|
September 15, 1992
Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome
D A Driscoll, N B Spinner, M L Budarf, et al.
Calcified Tissue International
|
August 14, 1998
The human bone morphogenetic protein 4 (BMP-4) gene: molecular structure and transcriptional regulation
E M Shore, M Xu, P B Shah, et al.
Blood
|
January 7, 1998
Panhandle polymerase chain reaction amplifies MLL genomic translocation breakpoint involving unknown partner gene
C A Felix, C S Kim, M D Megonigal, et al.
American Journal of Human Genetics
|
May 29, 2000
Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome
M E Hodes, K Woodward, N B Spinner, et al.
Molecular Diagnosis : a Journal Devoted to the Understanding of Human Disease Through the Clinical Application of Molecular Biology
|
February 15, 2000
Duplicated regions of AF-4 intron 4 at t(4;11) translocation breakpoints
C A Felix, M R Hosler, D J Slater, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 3, 2001
Down syndrome congenital heart disease: a narrowed region and a candidate gene
G M Barlow, X N Chen, Z Y Shi, et al.
Page
of 7