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Early onset posterior subscapular cataract in a series of myotonic dystrophy type 2 patients

Eye (London), 2018-03, Vol.32 (3), p.622-625

2018

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Nablus mask‐like facial syndrome: Report of an atypical case with 8q21.3–q22.1 deletion

American journal of medical genetics. Part A, 2024-07, p.e63826

2024

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Aldolase A deficiency: Report of new cases and literature review

Molecular genetics and metabolism reports, 2021-06, Vol.27, p.100730, Article 100730

2021

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Mutation spectrum and phenotypic manifestation in FSHD Greek patients

Neuromuscular disorders : NMD, 2012-04, Vol.22 (4), p.339-349

2012

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SMA prenatal diagnosis: A modified protocol to help differentiation between deletions and gene conversion

Molecular and cellular probes, 2015-02, Vol.29 (1), p.71-73

2015

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EP.20ANO5-related myopathy: report of the first Greek patients

Neuromuscular disorders : NMD, 2019-10, Vol.29, p.S75-S76

2019

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PGD for X-linked and gender-dependent disorders using a robust, flexible single-tube PCR protocol

Reproductive biomedicine online, 2009, Vol.19 (3), p.418-425

2009

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P.273 - Early onset cataract: prominent feature in myotonic dystrophy type 2

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S179-S180

2017

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Early onset cataract: prominent feature in myotonic dystrophy type 2

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S179-S180

2017

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Coinheritance of mutated SMN1 and MECP2 genes in a child with phenotypic features of spinal muscular atrophy (SMA) type II and Rett syndrome

European journal of paediatric neurology, 2007-07, Vol.11 (4), p.235-239

2007

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P295 – 1801 A single aminoacid deletion in the dystrophin protein associated with a mild clinical phenotype

European journal of paediatric neurology, 2013-09, Vol.17, p.S135-S135

2013

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Identification of three polymorphisms in the dystrophin gene

Molecular and cellular probes, 1999-12, Vol.13 (6), p.453-454

1999

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Screening for minor changes in the distal part of the human dystrophin gene in Greek DMD/BMD patients

European journal of human genetics : EJHG, 1999-02, Vol.7 (2), p.179-187

1999

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P03.3 Clinical, biochemical and molecular analysis of patients with chronic subclinical elevation of CK and recurrent hyperCKemia

European journal of paediatric neurology, 2011-05, Vol.15, p.S42-S43

2011

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Facioscapulohumeral muscular dystrophy molecular testing using a non radioactive protocol

Molecular and cellular probes, 2005-12, Vol.19 (6), p.422-424

2005

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252 Association of VEGF gene polymorphisms with the development of heart failure in patients after myocardial infarction

European journal of heart failure. Supplements, 2008-06, Vol.7 (Suppl_1), p.60-60

2008

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3' Acceptor splice site mutation in intron 50 leads to mild Duchenne muscular dystrophy phenotype

Human mutation, 1998, Vol.Suppl 1, p.S209-S212

1998

Volltextzugriff (PDF)

Aldolase A deficiency: Report of new cases and literature review

Molecular genetics and metabolism reports, 2021, Vol.27, p.100730-100730

2021

Volltextzugriff (PDF)

Deletion patterns of Duchenne and Becker muscular dystrophies in Greece

Journal of medical genetics, 1995-01, Vol.32 (1), p.48-51

1995

Volltextzugriff (PDF)

3′ acceptor splice site mutation in intron 50 leads to mild duchenne muscular dystrophy phenotype

Human mutation, 1998, Vol.11 (S1), p.S209-S212

1998

Volltextzugriff (PDF)

Mapping dystrophin gene recombinants in Greek DMD/BMD families : low recombination frequencies in the STR region

Human genetics, 1995-10, Vol.96 (4), p.423-426

1995

Volltextzugriff (PDF)

043 Spinal muscular atrophy in Greece

European journal of paediatric neurology, 1999, Vol.3 (6), p.A122-A123

1999

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Association of VEGF gene polymorphisms with the development of heart failure in patients after myocardial infarction

European journal of heart failure. Supplements, 2008-06, Vol.7, p.60-60

2008

Volltextzugriff (PDF)

A Greek National Cross-Sectional Study on Myotonic Dystrophies

International journal of molecular sciences, 2022-12, Vol.23 (24), p.15507

2022

Volltextzugriff (PDF)

Caveolinopathies in Greece

The Neurologist (Baltimore, Md.), 2015-07, Vol.20 (1), p.8-12

2015

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Early onset posterior subscapular cataract in a series of myotonic dystrophy type 2 patients

Nablus mask‐like facial syndrome: Report of an atypical case with 8q21.3–q22.1 deletion

Aldolase A deficiency: Report of new cases and literature review

Mutation spectrum and phenotypic manifestation in FSHD Greek patients

SMA prenatal diagnosis: A modified protocol to help differentiation between deletions and gene conversion

EP.20ANO5-related myopathy: report of the first Greek patients

PGD for X-linked and gender-dependent disorders using a robust, flexible single-tube PCR protocol

P.273 - Early onset cataract: prominent feature in myotonic dystrophy type 2

Early onset cataract: prominent feature in myotonic dystrophy type 2

Coinheritance of mutated SMN1 and MECP2 genes in a child with phenotypic features of spinal muscular atrophy (SMA) type II and Rett syndrome

P295 – 1801 A single aminoacid deletion in the dystrophin protein associated with a mild clinical phenotype

Identification of three polymorphisms in the dystrophin gene

Screening for minor changes in the distal part of the human dystrophin gene in Greek DMD/BMD patients

P03.3 Clinical, biochemical and molecular analysis of patients with chronic subclinical elevation of CK and recurrent hyperCKemia

Facioscapulohumeral muscular dystrophy molecular testing using a non radioactive protocol

252 Association of VEGF gene polymorphisms with the development of heart failure in patients after myocardial infarction

3' Acceptor splice site mutation in intron 50 leads to mild Duchenne muscular dystrophy phenotype

Aldolase A deficiency: Report of new cases and literature review

Deletion patterns of Duchenne and Becker muscular dystrophies in Greece

3′ acceptor splice site mutation in intron 50 leads to mild duchenne muscular dystrophy phenotype

Mapping dystrophin gene recombinants in Greek DMD/BMD families : low recombination frequencies in the STR region

043 Spinal muscular atrophy in Greece

Association of VEGF gene polymorphisms with the development of heart failure in patients after myocardial infarction

A Greek National Cross-Sectional Study on Myotonic Dystrophies

Caveolinopathies in Greece

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