Judith Fischer

University of Freiburg

Germany

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Research Interests

Biostatistics

50%

Cell Biology

40%

Medical Science

90%

Hereditary Diseases

40%

Dermatology

40%

Genomic

20%

Homologous Recombination

20%

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Articles13

Confetti cure: reversing the genetic kaleidoscope of ichthyosis

Article Link

Year:

2024

Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations

Article Link

Year:

2024

CRISPR-Cas12a for Highly Efficient and Marker-Free Targeted Integration in Human Pluripotent Stem Cells

Article Link

Year:

2024

Novel homozygous <scp>LAMB1</scp> in‐frame deletion in a pediatric patient with brain anomalies and cerebrovascular event

Article Link

Year:

2023

Syndromic ichthyoses

Article Link

Year:

2023

Mutational Spectrum of the ABCA12 Gene and Genotype–Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis

Article Link

Year:

2023

Amino Acid Substitution in the Cysteine-Rich Region of the Integrin β4 Subunit Causes Late-Onset Mild Junctional Epidermolysis Bullosa without Extracutaneous Involvement

Article Link

Year:

2023

Pathogenic variants in the SPTLC1 gene cause hyperkeratosis lenticularis perstans

Article Link

Year:

2023

Adding up the desmosomal genes causing syndromes with hair and skin involvement: identification of TUFT1 by state-of-the-art whole-genome sequencing

Article Link

Year:

2022

First Description of Inheritance of a Postzygotic OPA1 Mosaic Variant

Article Link

Year:

2022

Marfan Syndrome Caused by Disruption of the FBN1 Gene due to A Reciprocal Chromosome Translocation

Article Link

Year:

2021

The Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome

Article Link

Year:

2021

Maternal Isodisomy of Chromosome 3 Combined with a De Novo Mutation in the ABHD5 Gene Causes Autosomal Recessive Chanarin-Dorfman Syndrome

Article Link

Year:

2021

Collaborators4

Hazem A. Juratli

SWITZERLAND

Katalin Komlosi

GERMANY

Svenja Alter

University of Freiburg

GERMANY

Andreas Tzschach

University Medical Center Freiburg

GERMANY

How do Bangladeshi students reach out?

Meet Kite AI

Judith Fischer

How do Bangladeshi students reach out?

Contact this professor

Research Interests

Ask ApplyKite AI

Articles13

Confetti cure: reversing the genetic kaleidoscope of ichthyosis

Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying <i>ABCA12</i> Mutations

CRISPR-Cas12a for Highly Efficient and Marker-Free Targeted Integration in Human Pluripotent Stem Cells

Novel homozygous <scp><i>LAMB1</i></scp> in‐frame deletion in a pediatric patient with brain anomalies and cerebrovascular event

Syndromic ichthyoses

Mutational Spectrum of the ABCA12 Gene and Genotype–Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis

Amino Acid Substitution in the Cysteine-Rich Region of the Integrin β4 Subunit Causes Late-Onset Mild Junctional Epidermolysis Bullosa without Extracutaneous Involvement

Pathogenic variants in the SPTLC1 gene cause hyperkeratosis lenticularis perstans

Adding up the desmosomal genes causing syndromes with hair and skin involvement: identification of <i>TUFT1</i> by state-of-the-art whole-genome sequencing

First Description of Inheritance of a Postzygotic OPA1 Mosaic Variant

Marfan Syndrome Caused by Disruption of the FBN1 Gene due to A Reciprocal Chromosome Translocation

The Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome

Maternal Isodisomy of Chromosome 3 Combined with a De Novo Mutation in the ABHD5 Gene Causes Autosomal Recessive Chanarin-Dorfman Syndrome

Collaborators4

Hazem A. Juratli

Katalin Komlosi

Svenja Alter

Andreas Tzschach

How do Bangladeshi students reach out?