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Filling the gap: Genetic risk assessment in hypercholesterolemia using LDL‐C and LPA genetic scores

Clinical genetics, 2023-09, Vol.104 (3), p.334-343

2023

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Amp(1q) and tetraploidy are commonly acquired chromosomal abnormalities in relapsed multiple myeloma

European journal of haematology, 2023-03, Vol.110 (3), p.296-304

2023

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Clonal dynamics in a composite chronic lymphocytic leukemia and hairy cell leukemia‐variant

Genes chromosomes & cancer, 2021-04, Vol.60 (4), p.287-292

2021

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EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency

European journal of human genetics : EJHG, 2020-10, Vol.28 (10), p.1341-1367

2020

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A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2

American journal of medical genetics. Part A, 2016-02, Vol.170A (2), p.392-402

2016

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Array genotyping as diagnostic approach in medical genetics

Molecular genetics & genomic medicine, 2022-09, Vol.10 (9), p.e2016-n/a

2022

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Reply to Lao Q and Merke DP

European journal of human genetics : EJHG, 2021-07, Vol.29 (7), p.1045-1046

2021

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Smith‐Lemli‐Opitz syndrome — Fetal phenotypes with special reference to the syndrome‐specific internal malformation pattern

Birth defects research, 2020-01, Vol.112 (2), p.175-185

2020

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Identifying adult hypophosphatasia in the rheumatology unit

Orphanet journal of rare diseases, 2022-12, Vol.17 (1), p.435-435, Article 435

2022

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Marathoning with myotonic dystrophy type 2 (proximal myotonic myopathy) and leukopenia

SAGE open medical case reports, 2017-01, Vol.5, p.2050313X17703021

2017

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Retrospective identification of the first cord blood-transplanted severe aplastic anemia in a STAT1 -associated chronic mucocutaneous candidiasis family: case report, review of literature and pathophysiologic background

Frontiers in immunology, 2024-07, Vol.15, p.1430938

2024

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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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Single nucleotide polymorphism array analysis in men with idiopathic azoospermia or oligoasthenozoospermia syndrome

Fertility and sterility, 2013-07, Vol.100 (1), p.81-87

2013

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Mutations in the Δ7-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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Identification of the rare EGFR mutation p.G796S as somatic and germline mutation in white patients with squamous cell carcinoma of the head and neck

Head & neck, 2008-08, Vol.30 (8), p.1040-1044

2008

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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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Molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome is reliable and efficient

Prenatal diagnosis, 2002-09, Vol.22 (9), p.827-830

2002

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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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Birthday of a syndrome: 50 years anniversary of Smith-Lemli-Opitz Syndrome

European journal of human genetics : EJHG, 2015-03, Vol.23 (3), p.277-278

2015

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Clinical utility gene card for: prototypic hereditary recurrent fever syndromes (monogenic autoinflammatory syndromes)

European journal of human genetics : EJHG, 2015-08, Vol.23 (8), p.1111-1111

2015

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Expanding the phenotype of hypomaturation amelogenesis imperfecta due to a novel SLC24A4 variant

Clinical oral investigations, 2020-10, Vol.24 (10), p.3519-3525

2020

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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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Filling the gap: Genetic risk assessment in hypercholesterolemia using LDL‐C and LPA genetic scores

Amp(1q) and tetraploidy are commonly acquired chromosomal abnormalities in relapsed multiple myeloma

Clonal dynamics in a composite chronic lymphocytic leukemia and hairy cell leukemia‐variant

EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency

A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2

Array genotyping as diagnostic approach in medical genetics

Reply to Lao Q and Merke DP

Smith‐Lemli‐Opitz syndrome — Fetal phenotypes with special reference to the syndrome‐specific internal malformation pattern

Identifying adult hypophosphatasia in the rheumatology unit

Marathoning with myotonic dystrophy type 2 (proximal myotonic myopathy) and leukopenia

Retrospective identification of the first cord blood-transplanted severe aplastic anemia in a STAT1 -associated chronic mucocutaneous candidiasis family: case report, review of literature and pathophysiologic background

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

Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring

Single nucleotide polymorphism array analysis in men with idiopathic azoospermia or oligoasthenozoospermia syndrome

Mutations in the Δ7-sterol reductase gene in patients with the Smith–Lemli–Opitz syndrome

Identification of the rare EGFR mutation p.G796S as somatic and germline mutation in white patients with squamous cell carcinoma of the head and neck

Human variome project country nodes: Documenting genetic information within a country

Mutations in the human DHCR7 gene

Molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome is reliable and efficient

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

Birthday of a syndrome: 50 years anniversary of Smith-Lemli-Opitz Syndrome

Clinical utility gene card for: prototypic hereditary recurrent fever syndromes (monogenic autoinflammatory syndromes)

Expanding the phenotype of hypomaturation amelogenesis imperfecta due to a novel SLC24A4 variant

Variant-specific LDL-cholesterol patterns and risk of atherosclerotic cardiovascular disease in heterozygous FH: Insights from the Austrian FH-Registry

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

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