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Rac1 as a potential therapeutic target for chemo-radioresistant head and neck squamous cell carcinomas (HNSCC)

British journal of cancer, 2014-05, Vol.110 (11), p.2677-2687

2014

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Characterization of large deletions in the DHCR7 gene

Clinical genetics, 2015-08, Vol.88 (2), p.149-154

2015

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Andrological findings in infertile men with two (biallelic) CFTR mutations: results of a multicentre study in Germany and Austria comprising 71 patients

Human reproduction (Oxford), 2021-02, Vol.36 (3), p.551-559

2021

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Guidelines for the genetic diagnosis of hereditary recurrent fevers

Annals of the Rheumatic Diseases, 2012-10, Vol.71 (10), p.1599-1605

2012

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Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome

Journal of medical genetics, 2004-08, Vol.41 (8), p.577-584

2004

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VP25.06: Anophthalmia due to a novel mutation in the SOX2 gene

Ultrasound in obstetrics & gynecology, 2020-10, Vol.56 (S1), p.163-163

2020

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High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey

Clinical genetics, 2012-06, Vol.81 (6), p.598-601

2012

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Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy

Human mutation, 2005-04, Vol.25 (4), p.412-412

2005

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DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome

Clinical genetics, 2004-12, Vol.66 (6), p.517-524

2004

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Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations

Journal of medical genetics, 2008-04, Vol.45 (4), p.200-209

2008

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Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations

European journal of human genetics : EJHG, 2001-01, Vol.9 (1), p.45-50

2001

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Mutational Spectrum in the Δ7-Sterol Reductase Gene and Genotype-Phenotype Correlation in 84 Patients with Smith-Lemli-Opitz Syndrome

American journal of human genetics, 2000, Vol.66 (2), p.402-412

2000

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Low incidence of mutations in EGFR kinase domain in Caucasian patients with head and neck squamous cell carcinoma

European journal of cancer (1990), 2006, Vol.42 (1), p.109-111

2006

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Mutations in the Δ 7-sterol Reductase Gene in Patients with the Smith--Lemli--Opitz Syndrome

Proceedings of the National Academy of Sciences - PNAS, 1998-07, Vol.95 (14), p.8181-8186

1998

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POS1137 IDENTIFYING ADULT HYPOPHOSPHATASIA IN THE RHEUMATOLOGY UNIT

Annals of the rheumatic diseases, 2021-06, Vol.80 (Suppl 1), p.848-848

2021

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Mutations in the human DHCR7 gene

Human mutation, 2001-03, Vol.17 (3), p.172-182

2001

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Characteristics and management of individuals with familial hypercholesterolemia in Austria – Data from the national FH-registry

Atherosclerosis, 2023-08, Vol.379, p.S115

2023

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Gefitinib-responsive EGFR-positive colorectal cancers have different proteome profiles from non-responsive cell lines

European journal of cancer (1990), 2005-10, Vol.41 (15), p.2338-2346

2005

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Weakness of the limb girdle type with finger tremor and elevated creatine kinase

Neuropediatrics, 2013, Vol.44 (2)

2013

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Adrenale Enzymdefekte und metabolische Störungen beim Polycystischen Ovarsyndrom (PCOS)

Geburtshilfe und Frauenheilkunde, 2009, Vol.69 (9)

2009

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Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome

Proceedings of the National Academy of Sciences - PNAS, 1998-07, Vol.95 (14), p.8181

1998

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Mutation screening in the DHCR7 gene of patients with attention deficit and hyperactivity disorder

American journal of medical genetics, 2001-07, Vol.102 (1), p.106-107

2001

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Identification of 14 novel mutations inDHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of theDHCR7 mutational spectra in Spain and Italy

Human mutation, 2005-04, Vol.25 (4), p.412-412

2005

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Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome

American journal of human genetics, 2000-02, Vol.66 (2), p.402-412

2000

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Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2

European journal of human genetics : EJHG, 2012-12, Vol.20 (12), p.1203-1208

2012

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Rac1 as a potential therapeutic target for chemo-radioresistant head and neck squamous cell carcinomas (HNSCC)

Characterization of large deletions in the DHCR7 gene

Andrological findings in infertile men with two (biallelic) CFTR mutations: results of a multicentre study in Germany and Austria comprising 71 patients

Guidelines for the genetic diagnosis of hereditary recurrent fevers

Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome

VP25.06: Anophthalmia due to a novel mutation in the SOX2 gene

High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey

Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy

DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome

Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations

Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations

Mutational Spectrum in the Δ7-Sterol Reductase Gene and Genotype-Phenotype Correlation in 84 Patients with Smith-Lemli-Opitz Syndrome

Low incidence of mutations in EGFR kinase domain in Caucasian patients with head and neck squamous cell carcinoma

Mutations in the Δ 7-sterol Reductase Gene in Patients with the Smith--Lemli--Opitz Syndrome

POS1137 IDENTIFYING ADULT HYPOPHOSPHATASIA IN THE RHEUMATOLOGY UNIT

Mutations in the human DHCR7 gene

Characteristics and management of individuals with familial hypercholesterolemia in Austria – Data from the national FH-registry

Gefitinib-responsive EGFR-positive colorectal cancers have different proteome profiles from non-responsive cell lines

Weakness of the limb girdle type with finger tremor and elevated creatine kinase

Adrenale Enzymdefekte und metabolische Störungen beim Polycystischen Ovarsyndrom (PCOS)

Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome

Mutation screening in the DHCR7 gene of patients with attention deficit and hyperactivity disorder

Identification of 14 novel mutations inDHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of theDHCR7 mutational spectra in Spain and Italy

Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome

Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2

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