Persistent hyperkeratotic plaques

Julie Claude Schroeder

doi:10.1111/ddg.15337_g

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Persistent hyperkeratotic plaques

2024-03-07

PRE

Julie Claude Schroeder *

Svenja Alter

Judith Fischer

Regina Fölster‐Holst

DOI：10.1111/ddg.15337_g

Original

Original request for help

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Abstract

Keywords:

ERYTHROKERATODERMIA VARIABILIS

MUTATION

VARIANTS

Journal

Journal der Deutschen Dermatologischen Gesellschaft

IF:

3.8

Papers:

4.2K

Citations:

4.3K

Organization

university of kiel

Scholars:

2.3W

Papers: 1.8W

Citations: 15

schleswig holstein university hospital

Scholars:

7.5K

Papers: 5.5K

Citations: 5

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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

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2015-05-01

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Richards, Sue; Aziz, Nazneen; Bale, Sherri; Bick, David; Das, Soma; Gastier-Foster, Julie; Grody, Wayne W.; Hegde, Madhuri; Lyon, Elaine; Spector, Elaine; Voelkerding, Karl; Rehm, Heidi L.

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A randomized, 48-week, placebo-controlled trial of intensive lifestyle modification and/or metformin therapy in overweight women with polycystic ovary syndrome: A pilot study

Fertility and Sterility

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2004-08-01

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Kathleen M Hoeger; Lynda Kochman; Nellie Wixom; Kimberly Craig; Richard K Miller; David S Guzick

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IS ERYTHROKERATODERMIA ONE DISORDER - A CLINICAL AND ULTRASTRUCTURAL-STUDY OF 2 SIBLINGS

BRITISH JOURNAL OF DERMATOLOGY

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1991-05-01

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MACFARLANE, AW; CHAPMAN, SJ; VERBOV, JL

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The relevance of human rights to socially responsible seafood

Predicting Future Oceans

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2019-01-01

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An XPS study of the reaction of silane with oxidized copper, silver, and gold surfaces

Surface Science

IF0

1985-01-01

PREAI

Ralph G. Nuzzo; Lawrence H. Dubois

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Journal of Biomolecular NMR

IF0

1999-01-01

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Maria Scarselli; Andrea Bernini; Claudia Segoni; Henriette Molinari; Gennaro Esposito; Arthur M. Lesk; Franco Laschi; Pierandrea Temussi; Neri Niccolai

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The molecular pathology of progressive symmetric erythrokeratoderma: A frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope

AMERICAN JOURNAL OF HUMAN GENETICS

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124

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IshidaYamamoto, A; McGrath, JA; Lam, HM; Iizuka, H; Friedman, RA; Christiano, AM

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Variants in KLK11, affecting signal peptide cleavage of kallikrein-related peptidase 11, cause an autosomal-dominant cornification disorder

BRITISH JOURNAL OF DERMATOLOGY

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