Andreas Dufke

Neu-ulm, BY, Germany

Last Updated: 09/26/2026

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Found 49 publications

Prenatal Phenotypic Features of Five Fetal Cases With RNU4ATAC-Associated Microcephalic Osteodysplastic Primordial Dwarfism Type I.

Prenatal Phenotypic Features of Five Fetal Cases With RNU4ATAC-Associated Microcephalic Osteodysplastic Primordial Dwarfism Type I.

Journal: Prenatal diagnosis

Published: May 07, 2026

Prenatal Genetic Testing for Beckwith-Wiedemann Syndrome: Considerations, Challenges and Observations (A Real-World Study).

Prenatal Genetic Testing for Beckwith-Wiedemann Syndrome: Considerations, Challenges and Observations (A Real-World Study).

Journal: Prenatal diagnosis

Published: November 22, 2025

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Journal: American journal of human genetics

Published: October 19, 2025

Transition From Children's to Adults' Healthcare for Youth With (Genetic) Intellectual Disabilities: An ERN-ITHACA Guideline.

Transition From Children's to Adults' Healthcare for Youth With (Genetic) Intellectual Disabilities: An ERN-ITHACA Guideline.

Journal: Journal of intellectual disability research : JIDR

Published: May 13, 2025

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.

Journal: Nature communications

Published: March 31, 2025

Addressing unmet needs in pregnancy and family planning of people living with rare and low-prevalence diseases: results of the "ERN transversal working group on pregnancy and family planning" survey.

Addressing unmet needs in pregnancy and family planning of people living with rare and low-prevalence diseases: results of the "ERN transversal working group on pregnancy and family planning" survey.

Journal: Reproductive health

Published: February 26, 2025

Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefits.

Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefits.

Journal: Breast (Edinburgh, Scotland)

Published: February 16, 2025

Congenital Imprinting Diseases: Aetiology, Pre- and Perinatal Manifestations, Diagnosis and Care of Affected Families and Pregnancies.

Congenital Imprinting Diseases: Aetiology, Pre- and Perinatal Manifestations, Diagnosis and Care of Affected Families and Pregnancies.

Journal: Geburtshilfe und Frauenheilkunde

Published: January 20, 2025

Post-Abortem Detection of a Pathogenic Somatic PIK3CA-Variant in an Abdominal Lymphangioma That Is Not Present in Cultured Amniotic Fluid Cells.

Post-Abortem Detection of a Pathogenic Somatic PIK3CA-Variant in an Abdominal Lymphangioma That Is Not Present in Cultured Amniotic Fluid Cells.

Journal: Prenatal diagnosis

Published: July 17, 2024

Pregnancy-related issues in rare and low-prevalence diseases: results of ERN transversal working group on pregnancy and family planning survey.

Pregnancy-related issues in rare and low-prevalence diseases: results of ERN transversal working group on pregnancy and family planning survey.

Journal: Orphanet journal of rare diseases

Published: February 05, 2024

Genomes in clinical care.

Genomes in clinical care.

Journal: NPJ genomic medicine

Published: September 01, 2023

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.

Journal: Brain : a journal of neurology

Published: April 26, 2023

Showing 1-12 of 49

Last Updated: 09/26/2026