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Human Mutation
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January 1, 1995
Identification of a one-basepair deletion in exon 6 of the dystrophin gene
G N Kavaslar, M Telatar, P Serdaroglu, et al.
Muscle & Nerve
|
April 13, 2011
Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid α-glucosidase activity
Deeksha S Bali, Adviye A Tolun, Jennifer L Goldstein, et al.
Analytical Biochemistry
|
April 6, 2010
Allantoin in human urine quantified by ultra-performance liquid chromatography-tandem mass spectrometry
Adviye A Tolun, Haoyue Zhang, Dora Il'yasova, et al.
Clinical Genetics
|
October 1, 1986
Analysis of fragile X-mental retardation families using flanking polymorphic DNA probes
P Goonewardena, K H Gustavson, G Holmgren, et al.
American Journal of Human Genetics
|
October 1, 1996
A high frequency of distinct ATM gene mutations in ataxia-telangiectasia
J Wright, S Teraoka, S Onengut, et al.
Human Genetics
|
August 1, 1992
DNA analysis in Turkish Duchenne/Becker muscular dystrophy families
E Battaloğlu, M Telatar, F Deymeer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 22, 2018
Laboratory analysis of amino acids, 2018 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
J Daniel Sharer, Irene De Biase, Dietrich Matern, et al.
The Turkish Journal of Pediatrics
|
April 1, 1992
Carrier detection by DNA analysis in Duchenne muscular dystrophy families
E Battaloğlu, M Telatar, F Deymeer, et al.
Annals of Human Genetics
|
June 5, 2001
Deletion pattern in the dystrophin gene in Turks and a comparison with Europeans and Indians
S Onengüt, G N Kavaslar, E Battaloğlu, et al.
Molecular Genetics and Metabolism Reports
|
July 5, 2022
Beyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver glycogen storage diseases?
Areeg El-Gharbawy, Adviye A Tolun, Carine A Halaby, et al.
Page
of 5
Search research articles
Search
Showing results (21-30 of 50) with videos related to
Sort By:
Page
of 5
Human Mutation
|
January 1, 1995
Identification of a one-basepair deletion in exon 6 of the dystrophin gene
G N Kavaslar, M Telatar, P Serdaroglu, et al.
Muscle & Nerve
|
April 13, 2011
Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid α-glucosidase activity
Deeksha S Bali, Adviye A Tolun, Jennifer L Goldstein, et al.
Analytical Biochemistry
|
April 6, 2010
Allantoin in human urine quantified by ultra-performance liquid chromatography-tandem mass spectrometry
Adviye A Tolun, Haoyue Zhang, Dora Il'yasova, et al.
Clinical Genetics
|
October 1, 1986
Analysis of fragile X-mental retardation families using flanking polymorphic DNA probes
P Goonewardena, K H Gustavson, G Holmgren, et al.
American Journal of Human Genetics
|
October 1, 1996
A high frequency of distinct ATM gene mutations in ataxia-telangiectasia
J Wright, S Teraoka, S Onengut, et al.
Human Genetics
|
August 1, 1992
DNA analysis in Turkish Duchenne/Becker muscular dystrophy families
E Battaloğlu, M Telatar, F Deymeer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 22, 2018
Laboratory analysis of amino acids, 2018 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
J Daniel Sharer, Irene De Biase, Dietrich Matern, et al.
The Turkish Journal of Pediatrics
|
April 1, 1992
Carrier detection by DNA analysis in Duchenne muscular dystrophy families
E Battaloğlu, M Telatar, F Deymeer, et al.
Annals of Human Genetics
|
June 5, 2001
Deletion pattern in the dystrophin gene in Turks and a comparison with Europeans and Indians
S Onengüt, G N Kavaslar, E Battaloğlu, et al.
Molecular Genetics and Metabolism Reports
|
July 5, 2022
Beyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver glycogen storage diseases?
Areeg El-Gharbawy, Adviye A Tolun, Carine A Halaby, et al.
Page
of 5