Hochschulschrift
Quality of life and clinical characteristics of self‐improving congenital ichthyosis within the disease spectrum of autosomal recessive congenital ichthyosis
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- Maße
-
31 cm
- Umfang
-
4 ungezählte Blätter, 13, 10 Blätter, 4 ungezählte Blätter
- Sprache
-
Englisch
- Anmerkungen
-
Illustrationen
Universität Münster, Dissertation, 2024
- Inhaltsverzeichnis
- Rechteinformation
-
Bei diesem Objekt liegt nur das Inhaltsverzeichnis digital vor. Der Zugriff darauf ist unbeschränkt möglich.
- Letzte Aktualisierung
- 17.02.2026, 12:06 UTC
Datenpartner
Dieses Objekt wird bereitgestellt von:
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Objekttyp
- Hochschulschrift
Beteiligte
Entstanden
- 2024
Ähnliche Objekte (12)
Quality of life and clinical characteristics of self‐improving congenital ichthyosis within the disease spectrum of autosomal recessive congenital ichthyosis
12R-lipoxygenase deficient mouse skin models for autosomal recessive congenital ichthyosis
Mutational spectrum of the ABCA12 gene and genotype–phenotype correlation in a cohort of 64 patients with autosomal recessive congenital ichthyosis
A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts
X-linked inheritances recessive of congenital nystagmus and autosomal dominant inheritances of congenital cataracts coexist in a Chinese family: a case report and literature review
Genetics of autosomal recessive intellectual disability
Autosomal recessive cerebellar ataxias
Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4
Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4
A novel HSF4gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan
SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract
Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy
Quality of life and clinical characteristics of self‐improving congenital ichthyosis within the disease spectrum of autosomal recessive congenital ichthyosis
12R-lipoxygenase deficient mouse skin models for autosomal recessive congenital ichthyosis
Mutational spectrum of the ABCA12 gene and genotype–phenotype correlation in a cohort of 64 patients with autosomal recessive congenital ichthyosis
A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts
X-linked inheritances recessive of congenital nystagmus and autosomal dominant inheritances of congenital cataracts coexist in a Chinese family: a case report and literature review
Genetics of autosomal recessive intellectual disability
Autosomal recessive cerebellar ataxias
Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4
Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4
A novel HSF4gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan
SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract
Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy
Quality of life and clinical characteristics of self‐improving congenital ichthyosis within the disease spectrum of autosomal recessive congenital ichthyosis
12R-lipoxygenase deficient mouse skin models for autosomal recessive congenital ichthyosis
Mutational spectrum of the ABCA12 gene and genotype–phenotype correlation in a cohort of 64 patients with autosomal recessive congenital ichthyosis
A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts
X-linked inheritances recessive of congenital nystagmus and autosomal dominant inheritances of congenital cataracts coexist in a Chinese family: a case report and literature review
Genetics of autosomal recessive intellectual disability
Autosomal recessive cerebellar ataxias
Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4
Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4
A novel HSF4gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan
SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract