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Evaluation of a Recently Established Test for Familial Hyperaldosteronism Type 1

Hormone and metabolic research, 2016-12, Vol.48 (12), p.865-868

2016

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Substrate deprivation therapy in juvenile Sandhoff disease

Journal of inherited metabolic disease, 2009-12, Vol.32 (Suppl 1), p.307-311

2009

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Autosomal dominant nemaline myopathy caused by a novel α-tropomyosin 3 mutation

Journal of neurology, 2010-04, Vol.257 (4), p.658-660

2010

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New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype

Journal of neurology, neurosurgery and psychiatry, 2010-09, Vol.81 (9), p.968-972

2010

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Rapid genetic diversification within dog breeds as evidenced by a case study on Schnauzers

Animal genetics, 2012-10, Vol.43 (5), p.577-586

2012

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Mutations in the calcium-sensing receptor: A new genetic risk factor for chronic pancreatitis?

Scandinavian journal of gastroenterology, 2006-03, Vol.41 (3), p.343-348

2006

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The LRRK2 gene in Parkinson’s disease: mutation screening in patients from Germany

Journal of neurology, neurosurgery and psychiatry, 2006-07, Vol.77 (7), p.891-892

2006

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Identification of a tyrosinase (TYR) exon 4 deletion in albino ferrets (Mustela putorius furo)

Animal genetics, 2007-08, Vol.38 (4), p.421-423

2007

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C283Y mutation in the gamma-sarcoglycan gene in Greek Gypsies with severe limb girdle muscular dystrophy

European journal of neurology, 2010-06, Vol.17 (6), p.e41-e42

2010

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Inclusion body myositis, Paget's disease of the bone and frontotemporal dementia: early involvement of the heart and respiratory muscles

Fortschritte der Neurologie-Psychiatrie, 2012-06, Vol.80 (6), p.344

2012

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On ancestors of dog breeds with focus on Weimaraner hunting dogs

Journal of animal breeding and genetics (1986), 2011-02, Vol.128 (1), p.64-72

2011

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Generalized progressive retinal atrophy of Sloughi dogs is due to an 8-bp insertion in exon 21 of the PDE6B gene

Cytogenetic and genome research, 2000-01, Vol.90 (3-4), p.261-267

2000

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Tracing the origin of ‘blue Weimaraner' dogs by molecular genetics

Journal of animal breeding and genetics (1986), 2011-04, Vol.128 (2), p.153-160

2011

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G.P.10.02 Does δ-sarcoglycan-associated autosomal dominant cardiomyopathy exist?

Neuromuscular disorders : NMD, 2009-09, Vol.19 (8), p.620-620

2009

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Parkin gene variations in late-onset Parkinson's disease: comparison between Norwegian and German cohorts

Acta neurologica Scandinavica, 2006-01, Vol.113 (1), p.9-13

2006

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Gene symbol: RYR1. Disease: malignant hyperthermia

Human genetics, 2005-12, Vol.118 (3-4), p.541-541

2005

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Gene symbol: RYR1. Disease: malignant hyperthermia

Human genetics, 2005-12, Vol.118 (3-4), p.543-543

2005

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Pancreatitis in primary hyperparathyroidism-related hypercalcaemia is not associated with mutations in the CASR gene

Experimental and clinical endocrinology & diabetes, 2007-09, Vol.115 (8), p.527-529

2007

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Gene symbol: RYR1. Disease: malignant hyperthermia

Human genetics, 2005-12, Vol.118 (3-4), p.542-542

2005

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Rare Variant of GM2 Gangliosidosis due to Activator Protein Deficiency: A Case Report

Neuropediatrics, 2015, Vol.46 (S 01)

2015

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APOE Alleles in Parkinson Disease and Their Relationship to Cognitive Decline: A Population-based, Longitudinal Study

Journal of geriatric psychiatry and neurology, 2009-09, Vol.22 (3), p.166-170

2009

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Alpha vs. gamma sarcoglycanopathy: DNA tests solve a case from Argentina

Acta myologica, 2007-10, Vol.26 (2), p.115-118

2007

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Exclusion of the PDE6A gene for generalised progressive retinal atrophy in 11 breeds of dog

Animal genetics, 2000-04, Vol.31 (2), p.135-139

2000

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Evaluation of RDS/Peripherin and ROM1 as candidate genes in generalised progressive retinal atrophy and exclusion of digenic inheritance

Animal genetics, 2000-06, Vol.31 (3), p.223-227

2000

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Rapid genetic diversification within dog breeds as evidenced by a case study on S chnauzers

Animal genetics, 2012-10, Vol.43 (5), p.577-586

2012

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Evaluation of a Recently Established Test for Familial Hyperaldosteronism Type 1

Substrate deprivation therapy in juvenile Sandhoff disease

Autosomal dominant nemaline myopathy caused by a novel α-tropomyosin 3 mutation

New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype

Rapid genetic diversification within dog breeds as evidenced by a case study on Schnauzers

Mutations in the calcium-sensing receptor: A new genetic risk factor for chronic pancreatitis?

The LRRK2 gene in Parkinson’s disease: mutation screening in patients from Germany

Identification of a tyrosinase (TYR) exon 4 deletion in albino ferrets (Mustela putorius furo)

C283Y mutation in the gamma-sarcoglycan gene in Greek Gypsies with severe limb girdle muscular dystrophy

Inclusion body myositis, Paget's disease of the bone and frontotemporal dementia: early involvement of the heart and respiratory muscles

On ancestors of dog breeds with focus on Weimaraner hunting dogs

Generalized progressive retinal atrophy of Sloughi dogs is due to an 8-bp insertion in exon 21 of the PDE6B gene

Tracing the origin of ‘blue Weimaraner' dogs by molecular genetics

G.P.10.02 Does δ-sarcoglycan-associated autosomal dominant cardiomyopathy exist?

Parkin gene variations in late-onset Parkinson's disease: comparison between Norwegian and German cohorts

Gene symbol: RYR1. Disease: malignant hyperthermia

Gene symbol: RYR1. Disease: malignant hyperthermia

Pancreatitis in primary hyperparathyroidism-related hypercalcaemia is not associated with mutations in the CASR gene

Gene symbol: RYR1. Disease: malignant hyperthermia

Rare Variant of GM2 Gangliosidosis due to Activator Protein Deficiency: A Case Report

APOE Alleles in Parkinson Disease and Their Relationship to Cognitive Decline: A Population-based, Longitudinal Study

Alpha vs. gamma sarcoglycanopathy: DNA tests solve a case from Argentina

Exclusion of the PDE6A gene for generalised progressive retinal atrophy in 11 breeds of dog

Evaluation of RDS/Peripherin and ROM1 as candidate genes in generalised progressive retinal atrophy and exclusion of digenic inheritance

Rapid genetic diversification within dog breeds as evidenced by a case study on S chnauzers

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