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Dorota Garczarczyk-Asim

Showing results (1-10 of 9) with videos related to

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Clinical Genetics|March 9, 2026
Deep-Intronic Variant in RUNX2 Causing Pseudo-Exon Inclusion in a Family With Cleidocranial DysplasiaDorothea Stojanovic, Dorota Garczarczyk-Asim, Julia Vodopiutz, et al.
Molecular Genetics & Genomic Medicine|July 1, 2022
Further delineation of SLC9A3-related congenital sodium diarrheaEma Bogdanic, Thomas Müller, Peter Heinz-Erian, et al.
Plos One|March 23, 2018
Development of an in vitro potency assay for human skeletal muscle derived cellsMarco Thurner, Faheem Asim, Dorota Garczarczyk-Asim, et al.
Clinical Genetics|February 1, 2025
Pathogenic Deep Intronic PCSK1 Variant Causes Proprotein Convertase 1/3 Deficiency in a FamilyLeah M Huber, Aslı Subaşıoğlu, Dorota Garczarczyk-Asim, et al.
Genes|April 28, 2023
Leri-Weill Dyschondrosteosis Caused by a Leaky Homozygous <i>SHOX</i> Splice-Site VariantJulia Vodopiutz, Lisa-Maria Steurer, Florentina Haufler, et al.
Genes|July 29, 2025
Homozygous DHCR7 p.Val330Met Variant Associated with Mild Non-Syndromic Intellectual Disability and Elevated Serum 7-Dehydrocholesterol Levels in Two SiblingsLukas Hackl, Edda Haberlandt, Thomas Müller, et al.
Human Genetics|March 26, 2025
Congenital enteropathy caused by ezrin deficiencyGeorg F Vogel, Katharina M C Klee, Arzu Meltem Demir, et al.
Clinical Genetics|March 30, 2024
Kinesin family member 12-related hepatopathy: A generally indolent disorder with elevated gamma-glutamyl-transferase activityGeorg-Friedrich Vogel, Alexandra Podpeskar, Dietmar Rieder, et al.
American Journal of Ophthalmology|November 16, 2023
Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1Karynne Patterson, Jessica X Chong, Doug D Chung, et al.
Pageof 1

Showing results (1-10 of 9) with videos related to

Sort By:
Pageof 1
Clinical Genetics|March 9, 2026
Deep-Intronic Variant in RUNX2 Causing Pseudo-Exon Inclusion in a Family With Cleidocranial DysplasiaDorothea Stojanovic, Dorota Garczarczyk-Asim, Julia Vodopiutz, et al.
Molecular Genetics & Genomic Medicine|July 1, 2022
Further delineation of SLC9A3-related congenital sodium diarrheaEma Bogdanic, Thomas Müller, Peter Heinz-Erian, et al.
Plos One|March 23, 2018
Development of an in vitro potency assay for human skeletal muscle derived cellsMarco Thurner, Faheem Asim, Dorota Garczarczyk-Asim, et al.
Clinical Genetics|February 1, 2025
Pathogenic Deep Intronic PCSK1 Variant Causes Proprotein Convertase 1/3 Deficiency in a FamilyLeah M Huber, Aslı Subaşıoğlu, Dorota Garczarczyk-Asim, et al.
Genes|April 28, 2023
Leri-Weill Dyschondrosteosis Caused by a Leaky Homozygous <i>SHOX</i> Splice-Site VariantJulia Vodopiutz, Lisa-Maria Steurer, Florentina Haufler, et al.
Genes|July 29, 2025
Homozygous DHCR7 p.Val330Met Variant Associated with Mild Non-Syndromic Intellectual Disability and Elevated Serum 7-Dehydrocholesterol Levels in Two SiblingsLukas Hackl, Edda Haberlandt, Thomas Müller, et al.
Human Genetics|March 26, 2025
Congenital enteropathy caused by ezrin deficiencyGeorg F Vogel, Katharina M C Klee, Arzu Meltem Demir, et al.
Clinical Genetics|March 30, 2024
Kinesin family member 12-related hepatopathy: A generally indolent disorder with elevated gamma-glutamyl-transferase activityGeorg-Friedrich Vogel, Alexandra Podpeskar, Dietmar Rieder, et al.
American Journal of Ophthalmology|November 16, 2023
Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1Karynne Patterson, Jessica X Chong, Doug D Chung, et al.
Pageof 1