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Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years

Orphanet journal of rare diseases, 2021-03, Vol.16 (1), p.153-153, Article 153

2021

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High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR

European journal of human genetics : EJHG, 2020-01, Vol.28 (1), p.23-30

2020

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One Year of Newborn Screening for SMA - Results of a German Pilot Project

Journal of neuromuscular diseases, 2019-01, Vol.6 (4), p.503-515

2019

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Next generation sequencing as second-tier test in high-throughput newborn screening for nephropathic cystinosis

European journal of human genetics : EJHG, 2020-02, Vol.28 (2), p.193-201

2020

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Molecular based newborn screening in Germany: Follow-up for cystinosis

Molecular genetics and metabolism reports, 2019-12, Vol.21, p.100514-100514, Article 100514

2019

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Lesson from hypomorphic recombination-activating gene ( RAG ) mutations: Why asymptomatic siblings should also be tested

Journal of allergy and clinical immunology, 2014-04, Vol.133 (4), p.1211-1215.e2

2014

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Rapid Second-Tier Molecular Genetic Analysis for Congenital Adrenal Hyperplasia Attributable to Steroid 21-Hydroxylase Deficiency

Clinical chemistry (Baltimore, Md.), 2005-02, Vol.51 (2), p.298-304

2005

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Pyrolobus fumarii , gen. and sp. nov., represents a novel group of archaea, extending the upper temperature limit for life to 113 C

Extremophiles : life under extreme conditions, , Vol.1 (1), p.14-21

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Verification of lateral flow antigen tests for SARS-CoV-2 by qPCR directly from the test device

Dental materials, 2022-06, Vol.38 (6), p.e155-e159

2022

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Fast and cost-effective screening for SARS-CoV-2 variants in a routine diagnostic setting

Dental materials, 2021-03, Vol.37 (3), p.e95-e97

2021

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Comparison of an Internally Controlled, Large-Volume LightCycler Assay for Detection of Mycobacterium tuberculosis in Clinical Samples with the COBAS AMPLICOR Assay

Journal of Clinical Microbiology, 2005-04, Vol.43 (4), p.1564-1569

2005

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Fast and simple high-throughput testing of COVID 19

Dental materials, 2020-05, Vol.36 (5), p.e141-e142

2020

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Spinal Muscular Atrophy - Is Newborn Screening Too Late for Children with Two SMN2 Copies?

Journal of neuromuscular diseases, 2022, Vol.9 (3), p.389-396

2022

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Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden?

Journal of neuromuscular diseases, 2020, Vol.7 (2), p.109-117

2020

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16S rDNA-based Phylogeny of the Archaeal Order Sulfolobales and Reclassification of Desulfurolobus ambivalens as Acidianus ambivalens comb. nov

Systematic and applied microbiology, 1996-03, Vol.19 (1), p.56-60

1996

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Thermococcus chitonophagus sp. nov., a novel, chitin-degrading, hyperthermophilic archaeum from a deep-sea hydrothermal vent environment

Archives of microbiology, 1995-10, Vol.164 (4), p.255-264

1995

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Thermococcus alcaliphilus sp. nov., a new hyperthermophilic archaeum growing on polysulfide at alkaline pH

Archives of microbiology, 1995-12, Vol.164 (6), p.390-395

1995

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Occurrence and Role of Di-myo-Inositol-1,1′-Phosphate in Methanococcus igneus

Applied and Environmental Microbiology, 1994-10, Vol.60 (10), p.3660-3664

1994

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Erratum to "Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden?"

Journal of neuromuscular diseases, 2021, Vol.8 (2), p.335-336

2021

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Simple Technique for Internal Control of Real-Time Amplification Assays

Clinical chemistry (Baltimore, Md.), 2004-05, Vol.50 (5), p.819-825

2004

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Thermococcus acidaminovorans sp. nov., a new hyperthermophilic alkalophilic archaeon growing on amino acids

Extremophiles : life under extreme conditions, 1998-05, Vol.2 (2), p.109-114

1998

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Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening – Opportunity or Burden?1

Journal of neuromuscular diseases, 2020-03, Vol.7 (2), p.109-117

2020

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Simple technique for internal control of real-time amplification assays

Clinical chemistry (Baltimore, Md.), 2004-05, Vol.50 (6), p.819

Burggraf, Siegfried Olgemoller, Bernhard

2004

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Ignicoccus gen. nov., a novel genus of hyperthermophilic, chemolithoautotrophic Archaea, represented by two new species, Ignicoccus islandicus sp. nov. and Ignicoccus pacificus sp. nov

International journal of systematic and evolutionary microbiology, 2000-11, Vol.50 (6), p.2093-2100

2000

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Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years

High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR

One Year of Newborn Screening for SMA - Results of a German Pilot Project

Next generation sequencing as second-tier test in high-throughput newborn screening for nephropathic cystinosis

Molecular based newborn screening in Germany: Follow-up for cystinosis

Lesson from hypomorphic recombination-activating gene ( RAG ) mutations: Why asymptomatic siblings should also be tested

Rapid Second-Tier Molecular Genetic Analysis for Congenital Adrenal Hyperplasia Attributable to Steroid 21-Hydroxylase Deficiency

Pyrolobus fumarii , gen. and sp. nov., represents a novel group of archaea, extending the upper temperature limit for life to 113 C

Verification of lateral flow antigen tests for SARS-CoV-2 by qPCR directly from the test device

Fast and cost-effective screening for SARS-CoV-2 variants in a routine diagnostic setting

Comparison of an Internally Controlled, Large-Volume LightCycler Assay for Detection of Mycobacterium tuberculosis in Clinical Samples with the COBAS AMPLICOR Assay

Fast and simple high-throughput testing of COVID 19

Spinal Muscular Atrophy - Is Newborn Screening Too Late for Children with Two SMN2 Copies?

Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden?

16S rDNA-based Phylogeny of the Archaeal Order Sulfolobales and Reclassification of Desulfurolobus ambivalens as Acidianus ambivalens comb. nov

Thermococcus chitonophagus sp. nov., a novel, chitin-degrading, hyperthermophilic archaeum from a deep-sea hydrothermal vent environment

Newbornscreening SMA - From Pilot Project to Nationwide Screening in Germany

Thermococcus alcaliphilus sp. nov., a new hyperthermophilic archaeum growing on polysulfide at alkaline pH

Occurrence and Role of Di-myo-Inositol-1,1′-Phosphate in Methanococcus igneus

Erratum to "Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden?"

Simple Technique for Internal Control of Real-Time Amplification Assays

Thermococcus acidaminovorans sp. nov., a new hyperthermophilic alkalophilic archaeon growing on amino acids

Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening – Opportunity or Burden?1

Simple technique for internal control of real-time amplification assays

Ignicoccus gen. nov., a novel genus of hyperthermophilic, chemolithoautotrophic Archaea, represented by two new species, Ignicoccus islandicus sp. nov. and Ignicoccus pacificus sp. nov

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