Tentative assignment of hypomelanosis of Ito to 9q33----qter

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

Geographic barrier contributed to the diversity of maternal and paternal lineages in New Guinea Island.

Human genetics·2026

Clinical and molecular spectrum of congenital disorders of glycosylation in 80 Egyptian patients.

Human genetics·2026

Annual average exposure to ambient air pollution, polygenic risk, and incidence of major chronic diseases: a large-scale prospective cohort study.

Human genetics·2026

Association of apolipoprotein E gene with risk, cognition, and prognosis of epilepsy.

Human genetics·2026

A case-control study on IL-8 gene polymorphisms and serum IL-8 levels in patients with age-related macular degeneration in India.

Human genetics·2026

Clinical, immunological, and molecular characteristics of severe combined immune deficiency in China.

Human genetics·2026

Permanent congenital hypothyroidism with GBP1 p.Leu187Pro: clinical follow-up data and epigenetic insights.

Journal of pediatric endocrinology & metabolism : JPEM·2026

Association of HbA1c with Time in Range, Time in Tight Range, Empirically Derived Continuous Glucose Monitoring Glucose Ranges, and Mean Glucose.

Diabetes technology & therapeutics·2026

Integrative genomic and functional analysis identifies BCL10 as a novel driver of trophoblast senescence in preeclampsia.

Journal of hypertension·2026

The mutational and clinical spectrum of EYS-associated retinitis pigmentosa in an Eastern European and Northern Asian cohort: two recurrent founder alleles.

Frontiers in genetics·2026

The role of methylation and structural variants in shaping the recombination landscape of barley.

The Plant journal : for cell and molecular biology·2026

How to write (and review) a Genome Report.

Genome biology and evolution·2026

Related Experiment Videos

Tentative assignment of hypomelanosis of Ito to 9q33----qter

Related Concept Videos

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

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

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

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

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

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

Geographic barrier contributed to the diversity of maternal and paternal lineages in New Guinea Island.

Clinical and molecular spectrum of congenital disorders of glycosylation in 80 Egyptian patients.

Annual average exposure to ambient air pollution, polygenic risk, and incidence of major chronic diseases: a large-scale prospective cohort study.

Association of apolipoprotein E gene with risk, cognition, and prognosis of epilepsy.

A case-control study on IL-8 gene polymorphisms and serum IL-8 levels in patients with age-related macular degeneration in India.

Clinical, immunological, and molecular characteristics of severe combined immune deficiency in China.

Permanent congenital hypothyroidism with GBP1 p.Leu187Pro: clinical follow-up data and epigenetic insights.

Association of HbA1c with Time in Range, Time in Tight Range, Empirically Derived Continuous Glucose Monitoring Glucose Ranges, and Mean Glucose.

Integrative genomic and functional analysis identifies BCL10 as a novel driver of trophoblast senescence in preeclampsia.

The mutational and clinical spectrum of EYS-associated retinitis pigmentosa in an Eastern European and Northern Asian cohort: two recurrent founder alleles.

The role of methylation and structural variants in shaping the recombination landscape of barley.

How to write (and review) a Genome Report.

Related Experiment Videos

Tentative assignment of hypomelanosis of Ito to 9q33----qter

Related Concept Videos

Related Articles