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Genetic Testing
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July 30, 2003
A rapid and definitive test for Charcot-Marie-Tooth 1A and hereditary neuropathy with liability to pressure palsies using multiplexed real-time PCR
P Lorentzos, T Kaiser, M L Kennerson, et al.
Genetic Testing
|
July 30, 2003
Screening for familial dysautonomia in Israel: evidence for higher carrier rate among Polish Ashkenazi Jews
Ofer Lehavi, Orna Aizenstein, Dani Bercovich, et al.
Genetic Testing
|
July 30, 2003
A simple method of screening for the common connexin-26 gene 35delG mutation in nonsyndromic neurosensory autosomal recessive deafness
Miguel Fernández-Burriel, Francisco Rodríguez-Quiñones
Genetic Testing
|
July 30, 2003
Molecular genetic testing of beta-thalassemia patients of Indian origin and a novel 8-bp deletion mutation at codons 36/37/38/39
Anju Gupta, Yukio Hattori, Usha R Gupta, et al.
Genetic Testing
|
June 25, 2003
Utility of genetic screening in hypertrophic cardiomyopathy: prevalence and significance of novel and double (homozygous and heterozygous) beta-myosin mutations
Saidi A Mohiddin, David A Begley, Elisha McLam, et al.
Genetic Testing
|
June 25, 2003
Evaluation of a mass screening program for lysinuric protein intolerance in the northern part of Japan
Akio Koizumi, Norio Matsuura, Sumiko Inoue, et al.
Genetic Testing
|
June 25, 2003
Mutation analysis in congenital Long QT Syndrome--a case with missense mutations in KCNQ1 and SCN5A
Aimée Paulussen, Gert Matthijs, Marc Gewillig, et al.
Genetic Testing
|
June 25, 2003
Identification of a new mutation, S305C, in exon 7 of the low-density lipoprotein receptor gene in a Brazilian family with homozygous familial hypercholesterolemia
Laura van de Kerkhof, Silvia J Van Eijk, Joep C Defesche, et al.
Genetic Testing
|
August 1, 2008
Genetic screening of the G2019S mutation of the LRRK2 gene in Southwest European, North African, and Sephardic Jewish subjects
Nathalie Change, Géraldine Mercier, Gérard Lucotte
Genetic Testing
|
August 1, 2008
The prevalence of consanguineous marriages in an underserved area in Lebanon and its association with congenital anomalies
Ziad M Kanaan, Rami Mahfouz, Hala Tamim
Page
of 68
Search research articles
Search
Showing results (531-540 of 679) with videos related to
Sort By:
Page
of 68
Genetic Testing
|
July 30, 2003
A rapid and definitive test for Charcot-Marie-Tooth 1A and hereditary neuropathy with liability to pressure palsies using multiplexed real-time PCR
P Lorentzos, T Kaiser, M L Kennerson, et al.
Genetic Testing
|
July 30, 2003
Screening for familial dysautonomia in Israel: evidence for higher carrier rate among Polish Ashkenazi Jews
Ofer Lehavi, Orna Aizenstein, Dani Bercovich, et al.
Genetic Testing
|
July 30, 2003
A simple method of screening for the common connexin-26 gene 35delG mutation in nonsyndromic neurosensory autosomal recessive deafness
Miguel Fernández-Burriel, Francisco Rodríguez-Quiñones
Genetic Testing
|
July 30, 2003
Molecular genetic testing of beta-thalassemia patients of Indian origin and a novel 8-bp deletion mutation at codons 36/37/38/39
Anju Gupta, Yukio Hattori, Usha R Gupta, et al.
Genetic Testing
|
June 25, 2003
Utility of genetic screening in hypertrophic cardiomyopathy: prevalence and significance of novel and double (homozygous and heterozygous) beta-myosin mutations
Saidi A Mohiddin, David A Begley, Elisha McLam, et al.
Genetic Testing
|
June 25, 2003
Evaluation of a mass screening program for lysinuric protein intolerance in the northern part of Japan
Akio Koizumi, Norio Matsuura, Sumiko Inoue, et al.
Genetic Testing
|
June 25, 2003
Mutation analysis in congenital Long QT Syndrome--a case with missense mutations in KCNQ1 and SCN5A
Aimée Paulussen, Gert Matthijs, Marc Gewillig, et al.
Genetic Testing
|
June 25, 2003
Identification of a new mutation, S305C, in exon 7 of the low-density lipoprotein receptor gene in a Brazilian family with homozygous familial hypercholesterolemia
Laura van de Kerkhof, Silvia J Van Eijk, Joep C Defesche, et al.
Genetic Testing
|
August 1, 2008
Genetic screening of the G2019S mutation of the LRRK2 gene in Southwest European, North African, and Sephardic Jewish subjects
Nathalie Change, Géraldine Mercier, Gérard Lucotte
Genetic Testing
|
August 1, 2008
The prevalence of consanguineous marriages in an underserved area in Lebanon and its association with congenital anomalies
Ziad M Kanaan, Rami Mahfouz, Hala Tamim
Page
of 68