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Molecular Syndromology
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January 18, 2013
5q31 Microdeletions: Definition of a Critical Region and Analysis of LRRTM2, a Candidate Gene for Intellectual Disability
W Kleffmann, A M Zink, J A Lee, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
May 23, 2000
Clinical, cytogenetic and molecular analysis of three 46,XX males
E Plöchl, I Vlasak, O Rittinger, et al.
American Journal of Medical Genetics
|
September 20, 2001
Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus
P Stankiewicz, H Thiele, C Baldermann, et al.
Journal of Molecular Biology
|
May 26, 1999
Genetic and structural characterization of the human mitochondrial inner membrane translocase
M F Bauer, K Gempel, A S Reichert, et al.
Human Genetics
|
August 1, 1997
FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes
E Rao, B Weiss, M Fukami, et al.
European Journal of Human Genetics : EJHG
|
March 14, 2000
Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome
S Schiller, S Spranger, B Schechinger, et al.
Pharmacogenetics
|
February 24, 2001
Serotonin receptor gene HTR3A variants in schizophrenic and bipolar affective patients
B Niesler, B Weiss, C Fischer, et al.
Genomics
|
May 1, 1992
Physical mapping of 14 new DNA markers isolated from the human distal Xp region
M C Wapenaar, C Petit, E Basler, et al.
Journal of Medical Genetics
|
October 3, 1999
Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male
L Stuppia, G Calabrese, P Borrelli, et al.
Clinical Genetics
|
July 25, 2000
Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri-Weill dyschondrosteosis
G Palka, L Stuppia, P Guanciali Franchi, et al.
Page
of 7
Search research articles
Search
Showing results (41-50 of 62) with videos related to
Sort By:
Page
of 7
Molecular Syndromology
|
January 18, 2013
5q31 Microdeletions: Definition of a Critical Region and Analysis of LRRTM2, a Candidate Gene for Intellectual Disability
W Kleffmann, A M Zink, J A Lee, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
May 23, 2000
Clinical, cytogenetic and molecular analysis of three 46,XX males
E Plöchl, I Vlasak, O Rittinger, et al.
American Journal of Medical Genetics
|
September 20, 2001
Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus
P Stankiewicz, H Thiele, C Baldermann, et al.
Journal of Molecular Biology
|
May 26, 1999
Genetic and structural characterization of the human mitochondrial inner membrane translocase
M F Bauer, K Gempel, A S Reichert, et al.
Human Genetics
|
August 1, 1997
FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes
E Rao, B Weiss, M Fukami, et al.
European Journal of Human Genetics : EJHG
|
March 14, 2000
Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome
S Schiller, S Spranger, B Schechinger, et al.
Pharmacogenetics
|
February 24, 2001
Serotonin receptor gene HTR3A variants in schizophrenic and bipolar affective patients
B Niesler, B Weiss, C Fischer, et al.
Genomics
|
May 1, 1992
Physical mapping of 14 new DNA markers isolated from the human distal Xp region
M C Wapenaar, C Petit, E Basler, et al.
Journal of Medical Genetics
|
October 3, 1999
Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male
L Stuppia, G Calabrese, P Borrelli, et al.
Clinical Genetics
|
July 25, 2000
Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri-Weill dyschondrosteosis
G Palka, L Stuppia, P Guanciali Franchi, et al.
Page
of 7