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Detection of repeat expansions in large next generation DNA and RNA sequencing data without alignment

Scientific reports, 2022-07, Vol.12 (1), p.13124-13124, Article 13124

2022

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Generating linkage mapping files from Affymetrix SNP chip data

Bioinformatics, 2009-08, Vol.25 (15), p.1961-1962

2009

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GFI1B mutation causes a bleeding disorder with abnormal platelet function

Journal of thrombosis and haemostasis, 2013-11, Vol.11 (11), p.2039-2047

2013

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Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

Human molecular genetics, 2013-04, Vol.22 (7), p.1417-1423

2013

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Replication of KIAA0350, IL2RA, RPL5 and CD58 as multiple sclerosis susceptibility genes in Australians

Genes and immunity, 2008-10, Vol.9 (7), p.624-630

2008

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A new dominantly inherited pure cerebellar ataxia, SCA 30

Journal of neurology, neurosurgery and psychiatry, 2009-04, Vol.80 (4), p.408-411

2009

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Combination Therapy with Gemcitabine (GEM) and Erlotinib (E) in Exocrine Pancreatic Cancer under Special Reference to RASH and the Tumour Marker CA19-9

Anticancer research, 2012-05, Vol.32 (5), p.2191-2197

2012

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CA19-9 Serum Concentrations ― Analysis of the Serum Kinetics During First-line Therapy of Pancreatic Cancer in Relation to Overall Survival

Anticancer research, 2010-05, Vol.30 (5), p.1869-1874

2010

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Inference from Gene Trees in a Subdivided Population

Theoretical population biology, 2000-03, Vol.57 (2), p.79-95

2000

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Maturity-onset diabetes of the young type 5 in a family with diabetes and mild kidney disease diagnosed by whole exome sequencing

Internal medicine journal, 2014-11, Vol.44 (11), p.1137-1140

2014

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Heterogeneity at the HLA-DRB1 allelic variation locus does not influence multiple sclerosis disease severity, brain atrophy or cognition

Multiple sclerosis, 2011-03, Vol.17 (3), p.344-352

2011

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Apolipoprotein genotype does not influence MS severity, cognition, or brain atrophy

Neurology, 2009-09, Vol.73 (13), p.1018-1025

2009

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Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation

Clinical genetics, 2010-06, Vol.77 (6), p.563-571

2010

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Multiple Endokrine Neoplasie 2a: Spätmanifestation bei neuer Mutation

Deutsche medizinische Wochenschrift, 2008-03, Vol.133 (10), p.464-466

2008

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Predicting major adverse cardiovascular events in suspected myocarditis patients using cmr late gadolinium enhancement radiomics: a time-to-event prognostication modeling

European heart journal, 2024-10, Vol.45 (Supplement_1)

2024

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HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis‐related morbidity

Hepatology (Baltimore, Md.), 2009-07, Vol.50 (1), p.94-101

2009

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G.P.41 The identification of LGMD2G (TCAP) in Australia

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.831-832

2012

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P3.51 A new form of autosomal recessive myopathy associated with male hypogonadism links to chromosome 11q

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.697-698

2011

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Further Evidence for Prolongation of Survival of Pancreatic Cancer Patients by Efficacy Orientated Sequential Polychemotherapy (EOSPC) Based on Serial Tumor Marker Determinations (CA 19-9/CEA)

Anticancer research, 2005-05, Vol.25 (3A), p.1687-1691

2005

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Reflections on Treatment Strategies for Palliative Chemotherapy of Pancreatic Cancer

Anticancer research, 2007-07, Vol.27 (4A), p.1789-1794

2007

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Mitochondrial Genome Sequence of the Scabies Mite Provides Insight into the Genetic Diversity of Individual Scabies Infections

PLoS neglected tropical diseases, 2016-02, Vol.10 (2), p.e0004384

2016

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(476) From Vpra of 100% to Transplantation, Journey of the First Ocs-dbd Case in Switzerland

The Journal of heart and lung transplantation, 2023-04, Vol.42 (4), p.S218-S218

2023

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Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria

American journal of medical genetics. Part A, 2013-09, Vol.161A (9), p.2321-2326

2013

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HumanMSD and MouseMSD: generating genetic maps for human and murine microsatellite markers

Bioinformatics, 2004-11, Vol.20 (17), p.3280-3283

2004

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Detection of repeat expansions in large next generation DNA and RNA sequencing data without alignment

Generating linkage mapping files from Affymetrix SNP chip data

GFI1B mutation causes a bleeding disorder with abnormal platelet function

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

Replication of KIAA0350, IL2RA, RPL5 and CD58 as multiple sclerosis susceptibility genes in Australians

A new dominantly inherited pure cerebellar ataxia, SCA 30

Combination Therapy with Gemcitabine (GEM) and Erlotinib (E) in Exocrine Pancreatic Cancer under Special Reference to RASH and the Tumour Marker CA19-9

CA19-9 Serum Concentrations ― Analysis of the Serum Kinetics During First-line Therapy of Pancreatic Cancer in Relation to Overall Survival

Inference from Gene Trees in a Subdivided Population

Maturity-onset diabetes of the young type 5 in a family with diabetes and mild kidney disease diagnosed by whole exome sequencing

Heterogeneity at the HLA-DRB1 allelic variation locus does not influence multiple sclerosis disease severity, brain atrophy or cognition

Apolipoprotein genotype does not influence MS severity, cognition, or brain atrophy

Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation

Multiple Endokrine Neoplasie 2a: Spätmanifestation bei neuer Mutation

Predicting major adverse cardiovascular events in suspected myocarditis patients using cmr late gadolinium enhancement radiomics: a time-to-event prognostication modeling

HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis‐related morbidity

G.P.41 The identification of LGMD2G (TCAP) in Australia

P3.51 A new form of autosomal recessive myopathy associated with male hypogonadism links to chromosome 11q

Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response

Further Evidence for Prolongation of Survival of Pancreatic Cancer Patients by Efficacy Orientated Sequential Polychemotherapy (EOSPC) Based on Serial Tumor Marker Determinations (CA 19-9/CEA)

Reflections on Treatment Strategies for Palliative Chemotherapy of Pancreatic Cancer

Mitochondrial Genome Sequence of the Scabies Mite Provides Insight into the Genetic Diversity of Individual Scabies Infections

(476) From Vpra of 100% to Transplantation, Journey of the First Ocs-dbd Case in Switzerland

Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria

HumanMSD and MouseMSD: generating genetic maps for human and murine microsatellite markers

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