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Clinical Genetics Volume 73 Issue 1

2013
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1991
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1990
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1988
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1987
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1986
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1984
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1982
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1981
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1978
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1977
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1976
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1975
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1974
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1973
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1972
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When adaptive processes go awry: gain-of-function in SCN9A

Young,

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Haplogroup analysis supports a pathogenic role for the 7510T>C mutation of mitochondrial tRNA Ser(UCN) in sensorineural hearing loss

Labay,; Garrido,; Madeo,; Nance,; Friedman,; Friedman,; del Castillo,; Griffith,

Follow Clinical Genetics , Volume 73 (1) Wiley – Jan 1, 2008
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More Like This TUbkbblRfK Rentable

De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma

Drera,; Tadini,; Balbo,; Marchese,; Barlati,; Colombi,

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A novel arginine-to-cysteine substitution in the triple helical region of the α1(I) collagen chain in a family with an osteogenesis imperfecta/Ehlers–Danlos phenotype

Lund,; Joensen,; Christensen,; Dunø,; Skovby,; Schwartz,

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Two novel functional mutations in the Na + ,K + -ATPase α2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes

Castro,; Nunes,; de Vries,; Lemos,; Vanmolkot,; van den Heuvel,; Temudo,; Barros,; Sequeiros,; Frants,; Koenderink,; Pereira-Monteiro,; van den Maagdenberg,

Follow Clinical Genetics , Volume 73 (1) Wiley – Jan 1, 2008
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Sex-linked deafness

Petersen,; Wang,; Willems,

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More Like This 42ZzUaDlGv Rentable

Analysis of the HFE gene (H63D and C282Y) mutations in patients with iron overload, family members and controls from Antioquia, Northwest Colombia

Avila-Gomez,; Latorre-Sierra,; Restrepo-Gutierrez,; Correa-Arango,; Jimenez-Del-Rio,; Velez-Pardo,

Follow Clinical Genetics , Volume 73 (1) Wiley – Jan 1, 2008
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Genetic heterogeneity of autosomal dominant hypercholesterolemia

Varret,; Abifadel,; Rabès,; Boileau,

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More Like This DGWKRoTYK0 Rentable

Myocardin gene regulatory variants as surrogate markers of cardiac hypertrophy – study in a genetically homogeneous population

Kontaraki,; Parthenakis,; Patrianakos,; Karalis,; Vardas,

Follow Clinical Genetics , Volume 73 (1) Wiley – Jan 1, 2008
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Skeletal dysplasias and the growth plate

Alman,

Follow Clinical Genetics , Volume 73 (1) Wiley – Jan 1, 2008

Clinical Genetics Volume 73 Issue 1

When adaptive processes go awry: gain-of-function in SCN9A

Young,

Follow Clinical Genetics , Volume 73 (1) Wiley – Jan 1, 2008

Haplogroup analysis supports a pathogenic role for the 7510T>C mutation of mitochondrial tRNA Ser(UCN) in sensorineural hearing loss

Labay,; Garrido,; Madeo,; Nance,; Friedman,; Friedman,; del Castillo,; Griffith,

Follow Clinical Genetics , Volume 73 (1) Wiley – Jan 1, 2008

De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma

Drera,; Tadini,; Balbo,; Marchese,; Barlati,; Colombi,

Follow Clinical Genetics , Volume 73 (1) Wiley – Jan 1, 2008

A novel arginine-to-cysteine substitution in the triple helical region of the α1(I) collagen chain in a family with an osteogenesis imperfecta/Ehlers–Danlos phenotype

Lund,; Joensen,; Christensen,; Dunø,; Skovby,; Schwartz,

Follow Clinical Genetics , Volume 73 (1) Wiley – Jan 1, 2008

Two novel functional mutations in the Na + ,K + -ATPase α2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes

Castro,; Nunes,; de Vries,; Lemos,; Vanmolkot,; van den Heuvel,; Temudo,; Barros,; Sequeiros,; Frants,; Koenderink,; Pereira-Monteiro,; van den Maagdenberg,

Follow Clinical Genetics , Volume 73 (1) Wiley – Jan 1, 2008

Sex-linked deafness

Petersen,; Wang,; Willems,

Follow Clinical Genetics , Volume 73 (1) Wiley – Jan 1, 2008

Analysis of the HFE gene (H63D and C282Y) mutations in patients with iron overload, family members and controls from Antioquia, Northwest Colombia

Avila-Gomez,; Latorre-Sierra,; Restrepo-Gutierrez,; Correa-Arango,; Jimenez-Del-Rio,; Velez-Pardo,

Follow Clinical Genetics , Volume 73 (1) Wiley – Jan 1, 2008

Genetic heterogeneity of autosomal dominant hypercholesterolemia

Varret,; Abifadel,; Rabès,; Boileau,

Follow Clinical Genetics , Volume 73 (1) Wiley – Jan 1, 2008

Myocardin gene regulatory variants as surrogate markers of cardiac hypertrophy – study in a genetically homogeneous population

Kontaraki,; Parthenakis,; Patrianakos,; Karalis,; Vardas,

Follow Clinical Genetics , Volume 73 (1) Wiley – Jan 1, 2008

Skeletal dysplasias and the growth plate

Alman,

Follow Clinical Genetics , Volume 73 (1) Wiley – Jan 1, 2008

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Clinical Genetics Volume 73 Issue 1

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Follow Clinical Genetics , Volume 73 (1) Wiley – Jan 1, 2008

Labay,; Garrido,; Madeo,; Nance,; Friedman,; Friedman,; del Castillo,; Griffith,

Follow Clinical Genetics , Volume 73 (1) Wiley – Jan 1, 2008

Drera,; Tadini,; Balbo,; Marchese,; Barlati,; Colombi,

Follow Clinical Genetics , Volume 73 (1) Wiley – Jan 1, 2008

Lund,; Joensen,; Christensen,; Dunø,; Skovby,; Schwartz,

Follow Clinical Genetics , Volume 73 (1) Wiley – Jan 1, 2008

Castro,; Nunes,; de Vries,; Lemos,; Vanmolkot,; van den Heuvel,; Temudo,; Barros,; Sequeiros,; Frants,; Koenderink,; Pereira-Monteiro,; van den Maagdenberg,

Follow Clinical Genetics , Volume 73 (1) Wiley – Jan 1, 2008

Petersen,; Wang,; Willems,

Follow Clinical Genetics , Volume 73 (1) Wiley – Jan 1, 2008

Avila-Gomez,; Latorre-Sierra,; Restrepo-Gutierrez,; Correa-Arango,; Jimenez-Del-Rio,; Velez-Pardo,

Follow Clinical Genetics , Volume 73 (1) Wiley – Jan 1, 2008

Varret,; Abifadel,; Rabès,; Boileau,

Follow Clinical Genetics , Volume 73 (1) Wiley – Jan 1, 2008

Kontaraki,; Parthenakis,; Patrianakos,; Karalis,; Vardas,

Follow Clinical Genetics , Volume 73 (1) Wiley – Jan 1, 2008

Follow Clinical Genetics , Volume 73 (1) Wiley – Jan 1, 2008