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Ophthalmic Genetics
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January 3, 2001
Autosomal dominant cone-rod dystrophy due to a missense mutation (R838C) in the guanylate cyclase 2D gene (GUCY2D) with preserved rod function in one branch of the family
M Van Ghelue, H L Eriksen, V Ponjavic, et al.
Human Molecular Genetics
|
May 1, 1997
alpha-Mannosidosis: functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected siblings
O Nilssen, T Berg, H M Riise, et al.
American Journal of Human Genetics
|
January 1, 1991
Use of short sequence repeat DNA polymorphisms after PCR amplification to detect the parental origin of the additional chromosome 21 in Down syndrome
M B Petersen, A A Schinzel, F Binkert, et al.
Advances in Medical Sciences
|
November 14, 2013
Hearing impairment in Estonia: an algorithm to investigate genetic causes in pediatric patients
R Teek, K Kruustük, R Žordania, et al.
Clinical Genetics
|
July 1, 1993
Frequency of the delta F508 and exon 11 mutations in Norwegian cystic fibrosis patients
K Eiklid, L Tranebjaerg, H G Eiken, et al.
Thrombosis and Haemostasis
|
April 1, 1996
Mutation spectrum in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia: identification of twelve different mutations in the WASP gene
M Schwartz, A Békássy, M Donnér, et al.
Human Molecular Genetics
|
August 1, 1996
Identification of a new locus for autosomal dominant non-syndromic hearing impairment (DFNA7) in a large Norwegian family
T Fagerheim, O Nilssen, P Raeymaekers, et al.
Clinical Chemistry
|
July 27, 2001
Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRP1 ion channel: implications for acquired and congenital long Q-T syndrome
L A Larsen, P S Andersen, J Kanters, et al.
Journal of Medical Genetics
|
March 2, 1999
Homozygosity mapping to the USH2A locus in two isolated populations
T Fagerheim, P Raeymaekers, J Merren, et al.
Genomics
|
October 1, 1993
The gene for spondyloepiphyseal dysplasia (SEDL) maps to Xp22 between DXS16 and DXS92
S Heuertz, M Nelen, A O Wilkie, et al.
Page
of 11
Search research articles
Search
Showing results (71-80 of 107) with videos related to
Sort By:
Page
of 11
Ophthalmic Genetics
|
January 3, 2001
Autosomal dominant cone-rod dystrophy due to a missense mutation (R838C) in the guanylate cyclase 2D gene (GUCY2D) with preserved rod function in one branch of the family
M Van Ghelue, H L Eriksen, V Ponjavic, et al.
Human Molecular Genetics
|
May 1, 1997
alpha-Mannosidosis: functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected siblings
O Nilssen, T Berg, H M Riise, et al.
American Journal of Human Genetics
|
January 1, 1991
Use of short sequence repeat DNA polymorphisms after PCR amplification to detect the parental origin of the additional chromosome 21 in Down syndrome
M B Petersen, A A Schinzel, F Binkert, et al.
Advances in Medical Sciences
|
November 14, 2013
Hearing impairment in Estonia: an algorithm to investigate genetic causes in pediatric patients
R Teek, K Kruustük, R Žordania, et al.
Clinical Genetics
|
July 1, 1993
Frequency of the delta F508 and exon 11 mutations in Norwegian cystic fibrosis patients
K Eiklid, L Tranebjaerg, H G Eiken, et al.
Thrombosis and Haemostasis
|
April 1, 1996
Mutation spectrum in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia: identification of twelve different mutations in the WASP gene
M Schwartz, A Békássy, M Donnér, et al.
Human Molecular Genetics
|
August 1, 1996
Identification of a new locus for autosomal dominant non-syndromic hearing impairment (DFNA7) in a large Norwegian family
T Fagerheim, O Nilssen, P Raeymaekers, et al.
Clinical Chemistry
|
July 27, 2001
Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRP1 ion channel: implications for acquired and congenital long Q-T syndrome
L A Larsen, P S Andersen, J Kanters, et al.
Journal of Medical Genetics
|
March 2, 1999
Homozygosity mapping to the USH2A locus in two isolated populations
T Fagerheim, P Raeymaekers, J Merren, et al.
Genomics
|
October 1, 1993
The gene for spondyloepiphyseal dysplasia (SEDL) maps to Xp22 between DXS16 and DXS92
S Heuertz, M Nelen, A O Wilkie, et al.
Page
of 11