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Clinical Genetics Volume 74 Issue 6

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1991
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1990
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1986
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1984
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1982
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1980
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1978
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1974
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1972
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LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients

Oliveira,; Santos,; Soares-Silva,; Jorge,; Vieira,; Oliveira,; Moreira,; Coelho,; Ferreira,; Fonseca,; Barbosa,; Prats,; Aríztegui,; Martins,; Moreno,; Heinimann,; Barbot,; Pascual-Pascual,; Cabral,; Fineza,; Santos,; Bronze-da-Rocha,

Follow Clinical Genetics , Volume 74 (6) Wiley – Dec 1, 2008
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The Genetics of Birth Timing: Insights into a Fundamental Component of Human Development

Chaudhari,; Plunkett,; Ratajczak,; Shen,; DeFranco,; Muglia,

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A 2.1 Mb deletion adjacent but distal to a 14q21q23 paracentric inversion in a family with spherocytosis and severe learning difficulties

Lybæk,; Øyen,; Fauske,; Houge,

Follow Clinical Genetics , Volume 74 (6) Wiley – Dec 1, 2008
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A thorough MECP2 mutation analysis

Ravn,; Nielsen,

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Attitudes of couples identified through screening as carriers of Gaucher disease type 1

Zuckerman,; Lahad,; Zimran,; Levy-Lahad,; Sagi,

Follow Clinical Genetics , Volume 74 (6) Wiley – Dec 1, 2008
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Molecular analyses of GCH-1 , TH and parkin genes in Chinese dopa-responsive dystonia families

Wu,; Lin,; Chen,; Zhao,; Xie,; Murong,; Wang,

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More Like This B564SauSVA Rentable

MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome

Hertz,; Juncker,; Marcussen,

Follow Clinical Genetics , Volume 74 (6) Wiley – Dec 1, 2008
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Age-dependent risks in genetic counseling for spinocerebellar ataxia type 2

Almaguer Mederos,; Proenza,; Rodríguez Almira,; Escalona Batallán,; Santos Falcón,; Martínez Góngora,; Cuello Almarales,; Velásquez Pérez,; Paneque Herrera,

Follow Clinical Genetics , Volume 74 (6) Wiley – Dec 1, 2008
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More Like This q0lxOSRbBS Rentable

Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function

Shariat,; Holladay,; Cleary,; Phillips,; Patton,

Follow Clinical Genetics , Volume 74 (6) Wiley – Dec 1, 2008
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Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes

Gervasini,; Pfundt,; Castronovo,; Russo,; Roversi,; Masciadri,; Milani,; Zampino,; Selicorni,; Schoenmakers,; Larizza,

Follow Clinical Genetics , Volume 74 (6) Wiley – Dec 1, 2008

Clinical Genetics Volume 74 Issue 6

LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients

Oliveira,; Santos,; Soares-Silva,; Jorge,; Vieira,; Oliveira,; Moreira,; Coelho,; Ferreira,; Fonseca,; Barbosa,; Prats,; Aríztegui,; Martins,; Moreno,; Heinimann,; Barbot,; Pascual-Pascual,; Cabral,; Fineza,; Santos,; Bronze-da-Rocha,

Follow Clinical Genetics , Volume 74 (6) Wiley – Dec 1, 2008

The Genetics of Birth Timing: Insights into a Fundamental Component of Human Development

Chaudhari,; Plunkett,; Ratajczak,; Shen,; DeFranco,; Muglia,

Follow Clinical Genetics , Volume 74 (6) Wiley – Dec 1, 2008

A 2.1 Mb deletion adjacent but distal to a 14q21q23 paracentric inversion in a family with spherocytosis and severe learning difficulties

Lybæk,; Øyen,; Fauske,; Houge,

Follow Clinical Genetics , Volume 74 (6) Wiley – Dec 1, 2008

A thorough MECP2 mutation analysis

Ravn,; Nielsen,

Follow Clinical Genetics , Volume 74 (6) Wiley – Dec 1, 2008

Attitudes of couples identified through screening as carriers of Gaucher disease type 1

Zuckerman,; Lahad,; Zimran,; Levy-Lahad,; Sagi,

Follow Clinical Genetics , Volume 74 (6) Wiley – Dec 1, 2008

Molecular analyses of GCH-1 , TH and parkin genes in Chinese dopa-responsive dystonia families

Wu,; Lin,; Chen,; Zhao,; Xie,; Murong,; Wang,

Follow Clinical Genetics , Volume 74 (6) Wiley – Dec 1, 2008

MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome

Hertz,; Juncker,; Marcussen,

Follow Clinical Genetics , Volume 74 (6) Wiley – Dec 1, 2008

Age-dependent risks in genetic counseling for spinocerebellar ataxia type 2

Almaguer Mederos,; Proenza,; Rodríguez Almira,; Escalona Batallán,; Santos Falcón,; Martínez Góngora,; Cuello Almarales,; Velásquez Pérez,; Paneque Herrera,

Follow Clinical Genetics , Volume 74 (6) Wiley – Dec 1, 2008

Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function

Shariat,; Holladay,; Cleary,; Phillips,; Patton,

Follow Clinical Genetics , Volume 74 (6) Wiley – Dec 1, 2008

Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes

Gervasini,; Pfundt,; Castronovo,; Russo,; Roversi,; Masciadri,; Milani,; Zampino,; Selicorni,; Schoenmakers,; Larizza,

Follow Clinical Genetics , Volume 74 (6) Wiley – Dec 1, 2008

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Clinical Genetics Volume 74 Issue 6

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Oliveira,; Santos,; Soares-Silva,; Jorge,; Vieira,; Oliveira,; Moreira,; Coelho,; Ferreira,; Fonseca,; Barbosa,; Prats,; Aríztegui,; Martins,; Moreno,; Heinimann,; Barbot,; Pascual-Pascual,; Cabral,; Fineza,; Santos,; Bronze-da-Rocha,

Follow Clinical Genetics , Volume 74 (6) Wiley – Dec 1, 2008

Chaudhari,; Plunkett,; Ratajczak,; Shen,; DeFranco,; Muglia,

Follow Clinical Genetics , Volume 74 (6) Wiley – Dec 1, 2008

Lybæk,; Øyen,; Fauske,; Houge,

Follow Clinical Genetics , Volume 74 (6) Wiley – Dec 1, 2008

Ravn,; Nielsen,

Follow Clinical Genetics , Volume 74 (6) Wiley – Dec 1, 2008

Zuckerman,; Lahad,; Zimran,; Levy-Lahad,; Sagi,

Follow Clinical Genetics , Volume 74 (6) Wiley – Dec 1, 2008

Wu,; Lin,; Chen,; Zhao,; Xie,; Murong,; Wang,

Follow Clinical Genetics , Volume 74 (6) Wiley – Dec 1, 2008

Hertz,; Juncker,; Marcussen,

Follow Clinical Genetics , Volume 74 (6) Wiley – Dec 1, 2008

Almaguer Mederos,; Proenza,; Rodríguez Almira,; Escalona Batallán,; Santos Falcón,; Martínez Góngora,; Cuello Almarales,; Velásquez Pérez,; Paneque Herrera,

Follow Clinical Genetics , Volume 74 (6) Wiley – Dec 1, 2008

Shariat,; Holladay,; Cleary,; Phillips,; Patton,

Follow Clinical Genetics , Volume 74 (6) Wiley – Dec 1, 2008

Gervasini,; Pfundt,; Castronovo,; Russo,; Roversi,; Masciadri,; Milani,; Zampino,; Selicorni,; Schoenmakers,; Larizza,

Follow Clinical Genetics , Volume 74 (6) Wiley – Dec 1, 2008