Search research articles
Contact Us
Filters
Showing results (1-10 of 19) with videos related to
Page
of 2
Sort By:
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V
|
June 5, 2024
Franziska Schnabel
Clinical Genetics
|
August 30, 2020
Premature aging disorders: A clinical and genetic compendium
Franziska Schnabel, Uwe Kornak, Bernd Wollnik
Molecular Cytogenetics
|
January 9, 2019
Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22
Franziska Schnabel, Mateja Smogavec, Rudolf Funke, et al.
American Journal of Medical Genetics. Part A
|
December 7, 2020
Aplasia cutis congenita in a CDC42-related developmental phenotype
Franziska Schnabel, Susanne B Kamphausen, Rudolf Funke, et al.
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V
|
June 6, 2024
Ilona Krey, Simone Ahting, Andreas Forstner, et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
|
June 4, 2025
Novel variant of the NCSTN gene identified in a woman with hidradenitis suppurativa
Conrad Hempel, Sonja Grunewald, Till Mittank-Weidner, et al.
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V
|
June 5, 2024
Simone Ahting, Andreas Forstner, Maria Korte, et al.
Acta Haematologica
|
October 28, 2024
Thiamine-Responsive Megaloblastic Anemia Syndrome Mimicking Myelodysplastic Neoplasm
Christina Klötzer, Franziska Schnabel, Anne-Sophie Kubasch, et al.
Human Genetics
|
March 21, 2023
Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly
Franziska Schnabel, Elisabeth Schuler, Almundher Al-Maawali, et al.
Clinical Kidney Journal
|
July 2, 2026
Clinical impact of genetic testing in inherited kidney diseases
Lea M Merz, Sarah Stopp, Ilona Krey, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 19) with videos related to
Sort By:
Page
of 2
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V
|
June 5, 2024
Franziska Schnabel
Clinical Genetics
|
August 30, 2020
Premature aging disorders: A clinical and genetic compendium
Franziska Schnabel, Uwe Kornak, Bernd Wollnik
Molecular Cytogenetics
|
January 9, 2019
Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22
Franziska Schnabel, Mateja Smogavec, Rudolf Funke, et al.
American Journal of Medical Genetics. Part A
|
December 7, 2020
Aplasia cutis congenita in a CDC42-related developmental phenotype
Franziska Schnabel, Susanne B Kamphausen, Rudolf Funke, et al.
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V
|
June 6, 2024
Ilona Krey, Simone Ahting, Andreas Forstner, et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
|
June 4, 2025
Novel variant of the NCSTN gene identified in a woman with hidradenitis suppurativa
Conrad Hempel, Sonja Grunewald, Till Mittank-Weidner, et al.
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V
|
June 5, 2024
Simone Ahting, Andreas Forstner, Maria Korte, et al.
Acta Haematologica
|
October 28, 2024
Thiamine-Responsive Megaloblastic Anemia Syndrome Mimicking Myelodysplastic Neoplasm
Christina Klötzer, Franziska Schnabel, Anne-Sophie Kubasch, et al.
Human Genetics
|
March 21, 2023
Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly
Franziska Schnabel, Elisabeth Schuler, Almundher Al-Maawali, et al.
Clinical Kidney Journal
|
July 2, 2026
Clinical impact of genetic testing in inherited kidney diseases
Lea M Merz, Sarah Stopp, Ilona Krey, et al.
Page
of 2