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Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V
|
June 5, 2024
Syndromic ichthyoses
Judith Fischer, Alrun Hotz, Katalin Komlosi
Clinical and Experimental Dermatology
|
July 18, 2023
Epidermolysis bullosa simplex caused by a rare homozygous mutation in the EXPH5 gene
Henning Olbrich, Alrun Hotz, Judith Fischer, et al.
Clinical and Experimental Dermatology
|
June 27, 2026
A second case of recessive mosaicism in ABCA12 causing a congenital unilateral epidermal nevus
Madeleine Müller, Rebekka Salgo, Svenja Rademacher, et al.
Genes
|
August 27, 2021
Maternal Isodisomy of Chromosome 3 Combined with a <i>De Novo</i> Mutation in the <i>ABHD5</i> Gene Causes Autosomal Recessive Chanarin-Dorfman Syndrome
Julia Kopp, Cristina Has, Alrun Hotz, et al.
The Journal of Investigative Dermatology
|
May 21, 2023
Amino Acid Substitution in the Cysteine-Rich Region of the Integrin β4 Subunit Causes Late-Onset Mild Junctional Epidermolysis Bullosa without Extracutaneous Involvement
Yao Wang, Alrun Hotz, Philipp R Esser, et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
|
June 26, 2024
Pseudoainhum and universal alopecia
Lisa C Schneider, Alrun Hotz, Moritz Gugelmeier, et al.
Journal of Neurology
|
May 15, 2013
Cerebellar ataxia, mental retardation and dysequilibrium syndrome 1 (CAMRQ1) caused by an unusual constellation of VLDLR mutation
Lars Schlotawa, Alrun Hotz, Christine Zeschnigk, et al.
Clinical Case Reports
|
May 9, 2024
Hereditary epidermolytic palmoplantar keratosis due to a novel desmoglein-1 mutation: A case report
Kevin Koschitzki, Bernadett Kurz, Julia Schreml, et al.
Acta Dermato-Venereologica
|
March 31, 2016
Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients
Maritta Hellström Pigg, Anette Bygum, Agneta Gånemo, et al.
JIMD Reports
|
September 9, 2020
Neonatal presentation of COG6-CDG with prominent skin phenotype
Katalin Komlosi, Selina Gläser, Julia Kopp, et al.
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Search research articles
Search
Showing results (1-10 of 21) with videos related to
Sort By:
Page
of 3
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V
|
June 5, 2024
Syndromic ichthyoses
Judith Fischer, Alrun Hotz, Katalin Komlosi
Clinical and Experimental Dermatology
|
July 18, 2023
Epidermolysis bullosa simplex caused by a rare homozygous mutation in the EXPH5 gene
Henning Olbrich, Alrun Hotz, Judith Fischer, et al.
Clinical and Experimental Dermatology
|
June 27, 2026
A second case of recessive mosaicism in ABCA12 causing a congenital unilateral epidermal nevus
Madeleine Müller, Rebekka Salgo, Svenja Rademacher, et al.
Genes
|
August 27, 2021
Maternal Isodisomy of Chromosome 3 Combined with a <i>De Novo</i> Mutation in the <i>ABHD5</i> Gene Causes Autosomal Recessive Chanarin-Dorfman Syndrome
Julia Kopp, Cristina Has, Alrun Hotz, et al.
The Journal of Investigative Dermatology
|
May 21, 2023
Amino Acid Substitution in the Cysteine-Rich Region of the Integrin β4 Subunit Causes Late-Onset Mild Junctional Epidermolysis Bullosa without Extracutaneous Involvement
Yao Wang, Alrun Hotz, Philipp R Esser, et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
|
June 26, 2024
Pseudoainhum and universal alopecia
Lisa C Schneider, Alrun Hotz, Moritz Gugelmeier, et al.
Journal of Neurology
|
May 15, 2013
Cerebellar ataxia, mental retardation and dysequilibrium syndrome 1 (CAMRQ1) caused by an unusual constellation of VLDLR mutation
Lars Schlotawa, Alrun Hotz, Christine Zeschnigk, et al.
Clinical Case Reports
|
May 9, 2024
Hereditary epidermolytic palmoplantar keratosis due to a novel desmoglein-1 mutation: A case report
Kevin Koschitzki, Bernadett Kurz, Julia Schreml, et al.
Acta Dermato-Venereologica
|
March 31, 2016
Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients
Maritta Hellström Pigg, Anette Bygum, Agneta Gånemo, et al.
JIMD Reports
|
September 9, 2020
Neonatal presentation of COG6-CDG with prominent skin phenotype
Katalin Komlosi, Selina Gläser, Julia Kopp, et al.
Page
of 3