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Clinical Genetics Volume 76 Issue 1

2013
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2009
- Volume 76
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2008
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1995
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1994
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1993
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1992
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1991
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1990
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1989
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1988
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1987
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1986
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1985
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1984
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1983
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1982
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1981
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1980
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1979
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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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1971
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Identification of critical regions for clinical features of distal 10q deletion syndrome

Yatsenko,; Kruer,; Bader,; Corzo,; Schuette,; Keegan,; Nowakowska,; Peacock,; Cai,; Peiffer,; Gunderson,; Ou,; Chinault,; Cheung,

Follow Clinical Genetics , Volume 76 (1) Wiley – Jul 1, 2009
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An important risk factor in idiopathic generalized epilepsies

Stein, RA

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A double homozygous mutation in the POMT1 gene involving exon skipping gives rise to Walker-Warburg syndrome in two Spanish Gypsy families

Cotarelo, RP; Fano, O; Raducu, M; Peña, A; Tarilonte, P; Mateos, F; Simón, R; Cabello, A; Cruces, J

Follow Clinical Genetics , Volume 76 (1) Wiley – Jul 1, 2009
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A child cohort study from southern Italy enlarges the genetic spectrum of hypertrophic cardiomyopathy

Frisso, G; Limongelli, G; Pacileo, G; Del Giudice, A; Forgione, L; Calabrò, P; Iacomino, M; Detta, N; Di Fonzo, LM; Maddaloni, V; Calabrò, R; Salvatore, F

Follow Clinical Genetics , Volume 76 (1) Wiley – Jul 1, 2009
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Multiplex ligation-dependent probe amplification analysis to screen for deletions and duplications of the LDLR gene in patients with familial hypercholesterolaemia

Taylor,; Martin,; Wang,; Patel,; Humphries,; Norbury,

Follow Clinical Genetics , Volume 76 (1) Wiley – Jul 1, 2009
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Copy number variations in three children with sudden infant death

Toruner,; Kurvathi,; Sugalski,; Shulman,; Twersky,; Pearson,; Tozzi,; Schwalb,; Wallerstein,

Follow Clinical Genetics , Volume 76 (1) Wiley – Jul 1, 2009
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Subtelomeric 1q deletion syndrome causing patella hypoplasia and limb deformities, features overlapping with genitopatellar syndrome

Lam,; Lai,; Chau,; Lo,; Lam,

Follow Clinical Genetics , Volume 76 (1) Wiley – Jul 1, 2009
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Dynactin mutations and promises for neurodegenerative pathology

Stein, RA

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HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication

Bernardini,; Sinibaldi,; Capalbo,; Bottillo,; Mancuso,; Torres,; Novelli,; Digilio,; Dallapiccola,

Follow Clinical Genetics , Volume 76 (1) Wiley – Jul 1, 2009
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Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X)

Sarpong,; Schottmann,; Rüther,; Stoltenburg,; Kohlschütter,; Hübner,; Schuelke,

Follow Clinical Genetics , Volume 76 (1) Wiley – Jul 1, 2009

Clinical Genetics Volume 76 Issue 1

Identification of critical regions for clinical features of distal 10q deletion syndrome

Yatsenko,; Kruer,; Bader,; Corzo,; Schuette,; Keegan,; Nowakowska,; Peacock,; Cai,; Peiffer,; Gunderson,; Ou,; Chinault,; Cheung,

Follow Clinical Genetics , Volume 76 (1) Wiley – Jul 1, 2009

An important risk factor in idiopathic generalized epilepsies

Stein, RA

Follow Clinical Genetics , Volume 76 (1) Wiley – Jul 1, 2009

A double homozygous mutation in the POMT1 gene involving exon skipping gives rise to Walker-Warburg syndrome in two Spanish Gypsy families

Cotarelo, RP; Fano, O; Raducu, M; Peña, A; Tarilonte, P; Mateos, F; Simón, R; Cabello, A; Cruces, J

Follow Clinical Genetics , Volume 76 (1) Wiley – Jul 1, 2009

A child cohort study from southern Italy enlarges the genetic spectrum of hypertrophic cardiomyopathy

Frisso, G; Limongelli, G; Pacileo, G; Del Giudice, A; Forgione, L; Calabrò, P; Iacomino, M; Detta, N; Di Fonzo, LM; Maddaloni, V; Calabrò, R; Salvatore, F

Follow Clinical Genetics , Volume 76 (1) Wiley – Jul 1, 2009

Multiplex ligation-dependent probe amplification analysis to screen for deletions and duplications of the LDLR gene in patients with familial hypercholesterolaemia

Taylor,; Martin,; Wang,; Patel,; Humphries,; Norbury,

Follow Clinical Genetics , Volume 76 (1) Wiley – Jul 1, 2009

Copy number variations in three children with sudden infant death

Toruner,; Kurvathi,; Sugalski,; Shulman,; Twersky,; Pearson,; Tozzi,; Schwalb,; Wallerstein,

Follow Clinical Genetics , Volume 76 (1) Wiley – Jul 1, 2009

Subtelomeric 1q deletion syndrome causing patella hypoplasia and limb deformities, features overlapping with genitopatellar syndrome

Lam,; Lai,; Chau,; Lo,; Lam,

Follow Clinical Genetics , Volume 76 (1) Wiley – Jul 1, 2009

Dynactin mutations and promises for neurodegenerative pathology

Stein, RA

Follow Clinical Genetics , Volume 76 (1) Wiley – Jul 1, 2009

HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication

Bernardini,; Sinibaldi,; Capalbo,; Bottillo,; Mancuso,; Torres,; Novelli,; Digilio,; Dallapiccola,

Follow Clinical Genetics , Volume 76 (1) Wiley – Jul 1, 2009

Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X)

Sarpong,; Schottmann,; Rüther,; Stoltenburg,; Kohlschütter,; Hübner,; Schuelke,

Follow Clinical Genetics , Volume 76 (1) Wiley – Jul 1, 2009

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Clinical Genetics Volume 76 Issue 1

1 - 10 of 17 articles

Yatsenko,; Kruer,; Bader,; Corzo,; Schuette,; Keegan,; Nowakowska,; Peacock,; Cai,; Peiffer,; Gunderson,; Ou,; Chinault,; Cheung,

Follow Clinical Genetics , Volume 76 (1) Wiley – Jul 1, 2009

Follow Clinical Genetics , Volume 76 (1) Wiley – Jul 1, 2009

Cotarelo, RP; Fano, O; Raducu, M; Peña, A; Tarilonte, P; Mateos, F; Simón, R; Cabello, A; Cruces, J

Follow Clinical Genetics , Volume 76 (1) Wiley – Jul 1, 2009

Frisso, G; Limongelli, G; Pacileo, G; Del Giudice, A; Forgione, L; Calabrò, P; Iacomino, M; Detta, N; Di Fonzo, LM; Maddaloni, V; Calabrò, R; Salvatore, F

Follow Clinical Genetics , Volume 76 (1) Wiley – Jul 1, 2009

Taylor,; Martin,; Wang,; Patel,; Humphries,; Norbury,

Follow Clinical Genetics , Volume 76 (1) Wiley – Jul 1, 2009

Toruner,; Kurvathi,; Sugalski,; Shulman,; Twersky,; Pearson,; Tozzi,; Schwalb,; Wallerstein,

Follow Clinical Genetics , Volume 76 (1) Wiley – Jul 1, 2009

Lam,; Lai,; Chau,; Lo,; Lam,

Follow Clinical Genetics , Volume 76 (1) Wiley – Jul 1, 2009

Follow Clinical Genetics , Volume 76 (1) Wiley – Jul 1, 2009

Bernardini,; Sinibaldi,; Capalbo,; Bottillo,; Mancuso,; Torres,; Novelli,; Digilio,; Dallapiccola,

Follow Clinical Genetics , Volume 76 (1) Wiley – Jul 1, 2009

Sarpong,; Schottmann,; Rüther,; Stoltenburg,; Kohlschütter,; Hübner,; Schuelke,

Follow Clinical Genetics , Volume 76 (1) Wiley – Jul 1, 2009