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Superimposed mosaicism in tuberous sclerosis complex: a key to understanding all of the manifold manifestations?

Journal of the European Academy of Dermatology and Venereology : JEADV·2020

Hornstein-Knickenberg syndrome vs. Birt-Hogg-Dubé syndrome: a critical review of an unjustified designation.

Journal of the European Academy of Dermatology and Venereology : JEADV·2020

Mosaicism due to postzygotic mutations in women with focal dermal hypoplasia.

The British journal of dermatology·2018

The concept of type 2 segmental mosaicism, expanding from dermatology to general medicine.

Journal of the European Academy of Dermatology and Venereology : JEADV·2018

Koebner's sheep in Wolf's clothing: does the isotopic response exist as a distinct phenomenon?

Journal of the European Academy of Dermatology and Venereology : JEADV·2017

At first sight or second glance: clinical presentation of mosaic manifestations of autosomal dominant skin disorders - a case series.

Journal of the European Academy of Dermatology and Venereology : JEADV·2017

Cytological and cytogenetical studies on brain tumors. VI. No evidence for a translocation in 22-monosomic meningiomas.

Humangenetik·1975

Climate associated variations in the human serum albumin level.

Humangenetik·1975

A technique for in situ karyotyping of primary amniotic fluid cell cultures.

Humangenetik·1975

Sister chromatid exchanges and chromatid interchanges in bloom's syndrome.

Humangenetik·1975

Trisomy 9p due to paternal translocation, t(9;13) (q13;q12).

Humangenetik·1975

The Bf locus in the HLA region of chromosome 6: linkage and association studies.

Humangenetik·1975

A de novo 1.62 Mb deletion at 2q34 with nonpenetrant neurodevelopmental phenotype at 12 months.

Psychiatric genetics·2026

Case Report: novel mutations in SMARCA4 cause Coffin-Siris syndrome type 4 with autism spectrum disorder without visual impairment in one patient.

Frontiers in genetics·2026

Analysis of Genetic Factors in a Family With Short Stature.

Molecular genetics & genomic medicine·2026

The Importance of Familial Co-segregation in the Classification of a Novel PKD1 Variant Associated With Autosomal Dominant Polycystic Kidney Disease.

American journal of medical genetics. Part A·2026

Value of Knowing the Risk of Developing a Neurodegenerative Disease: A Discrete Choice Experiment.

PharmacoEconomics·2026

Allele-specific expression modulates the immunological and cis-regulatory landscape of Parkinson's Disease.

Computers in biology and medicine·2026

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