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American Journal of Medical Genetics
|
March 31, 1997
Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory
L G Shaffer, G M Kennedy, A S Spikes, et al.
Clinical Genetics
|
November 18, 2003
Omphalocele in trisomy 3q: further delineation of phenotype
S A Yatsenko, R Mendoza-Londono, J W Belmont, et al.
European Journal of Human Genetics : EJHG
|
June 15, 2000
Identification of female carriers for Duchenne and Becker muscular dystrophies using a FISH-based approach
A H Ligon, C D Kashork, C S Richards, et al.
American Journal of Human Genetics
|
May 1, 1995
Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome
E Nickerson, F Greenberg, M T Keating, et al.
American Journal of Medical Genetics
|
April 10, 1995
De novo tandem duplication of chromosome segment 22q11-q12: clinical, cytogenetic, and molecular characterization
E A Lindsay, L G Shaffer, R Carrozzo, et al.
Prenatal Diagnosis
|
May 22, 2001
Confined placental mosaicism for trisomy 14 and maternal uniparental disomy in association with elevated second trimester maternal serum human chorionic gonadotrophin and third trimester fetal growth restriction
D R Towner, L G Shaffer, S P Yang, et al.
American Journal of Medical Genetics
|
January 2, 1996
Segregation of a paternal insertional translocation results in partial 4q monosomy or 4q trisomy in two siblings
K M Hegmann, A S Spikes, A Orr-Urtreger, et al.
Cytogenetics and Cell Genetics
|
January 1, 1994
Estimates of aneuploidy using multicolor fluorescence in situ hybridization on human sperm
F Z Bischoff, D D Nguyen, K J Burt, et al.
American Journal of Medical Genetics
|
November 24, 1999
Caution: telomere crossing
L G Shaffer, C D Kashork, C A Bacino, et al.
Annals of the New York Academy of Sciences
|
December 10, 1999
Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A
C D Kashork, K S Chen, J R Lupski, et al.
Page
of 14
Search research articles
Search
Showing results (41-50 of 133) with videos related to
Sort By:
Page
of 14
American Journal of Medical Genetics
|
March 31, 1997
Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory
L G Shaffer, G M Kennedy, A S Spikes, et al.
Clinical Genetics
|
November 18, 2003
Omphalocele in trisomy 3q: further delineation of phenotype
S A Yatsenko, R Mendoza-Londono, J W Belmont, et al.
European Journal of Human Genetics : EJHG
|
June 15, 2000
Identification of female carriers for Duchenne and Becker muscular dystrophies using a FISH-based approach
A H Ligon, C D Kashork, C S Richards, et al.
American Journal of Human Genetics
|
May 1, 1995
Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome
E Nickerson, F Greenberg, M T Keating, et al.
American Journal of Medical Genetics
|
April 10, 1995
De novo tandem duplication of chromosome segment 22q11-q12: clinical, cytogenetic, and molecular characterization
E A Lindsay, L G Shaffer, R Carrozzo, et al.
Prenatal Diagnosis
|
May 22, 2001
Confined placental mosaicism for trisomy 14 and maternal uniparental disomy in association with elevated second trimester maternal serum human chorionic gonadotrophin and third trimester fetal growth restriction
D R Towner, L G Shaffer, S P Yang, et al.
American Journal of Medical Genetics
|
January 2, 1996
Segregation of a paternal insertional translocation results in partial 4q monosomy or 4q trisomy in two siblings
K M Hegmann, A S Spikes, A Orr-Urtreger, et al.
Cytogenetics and Cell Genetics
|
January 1, 1994
Estimates of aneuploidy using multicolor fluorescence in situ hybridization on human sperm
F Z Bischoff, D D Nguyen, K J Burt, et al.
American Journal of Medical Genetics
|
November 24, 1999
Caution: telomere crossing
L G Shaffer, C D Kashork, C A Bacino, et al.
Annals of the New York Academy of Sciences
|
December 10, 1999
Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A
C D Kashork, K S Chen, J R Lupski, et al.
Page
of 14