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Thomas Haaf

Showing results (171-180 of 190) with videos related to

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Human Genetics|January 26, 2021
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humansBarbara Vona, Neda Mazaheri, Sheng-Jia Lin, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|October 25, 2022
Single-Nucleotide Variants and Epimutations Induce Proteasome Inhibitor Resistance in Multiple MyelomaLarissa Haertle, Santiago Barrio, Umair Munawar, et al.
Archives of Iranian Medicine|July 14, 2020
The First Inherited Retinal Disease Registry in Iran: Research Protocol and Results of a Pilot StudyHamideh Sabbaghi, Narsis Daftarian, Fatemeh Suri, et al.
Human Genetics|January 7, 2018
The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for managementLisbeth Tranebjærg, Nicola Strenzke, Sture Lindholm, et al.
Human Genetics|February 14, 2018
Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for managementLisbeth Tranebjærg, Nicola Strenzke, Sture Lindholm, et al.
Medrxiv : the Preprint Server for Health Sciences|July 16, 2025
Domain specific phenotypic expansion associated with variants in <i>MACF1</i>Nikhita Gogate, Angad Jolly, Jill A Rosenfeld, et al.
Cell|January 14, 2017
DNA Damage Signaling Instructs Polyploid Macrophage Fate in GranulomasLaura Herrtwich, Indrajit Nanda, Konstantinos Evangelou, et al.
Nature Genetics|April 22, 2014
De novo mutations in HCN1 cause early infantile epileptic encephalopathyCaroline Nava, Carine Dalle, Agnès Rastetter, et al.
Cell|August 25, 2018
DNA Damage Signaling Instructs Polyploid Macrophage Fate in GranulomasLaura Herrtwich, Indrajit Nanda, Konstantinos Evangelou, et al.
Medrxiv : the Preprint Server for Health Sciences|April 10, 2026
<i>FRMPD4</i> , a causal gene for intellectual disability and epilepsy, is associated with X-linked non-syndromic hearing lossDaniel Liedtke, Kristen Rak, Katrina M Schrode, et al.
Pageof 19

Showing results (171-180 of 190) with videos related to

Sort By:
Pageof 19
Human Genetics|January 26, 2021
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humansBarbara Vona, Neda Mazaheri, Sheng-Jia Lin, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|October 25, 2022
Single-Nucleotide Variants and Epimutations Induce Proteasome Inhibitor Resistance in Multiple MyelomaLarissa Haertle, Santiago Barrio, Umair Munawar, et al.
Archives of Iranian Medicine|July 14, 2020
The First Inherited Retinal Disease Registry in Iran: Research Protocol and Results of a Pilot StudyHamideh Sabbaghi, Narsis Daftarian, Fatemeh Suri, et al.
Human Genetics|January 7, 2018
The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for managementLisbeth Tranebjærg, Nicola Strenzke, Sture Lindholm, et al.
Human Genetics|February 14, 2018
Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for managementLisbeth Tranebjærg, Nicola Strenzke, Sture Lindholm, et al.
Medrxiv : the Preprint Server for Health Sciences|July 16, 2025
Domain specific phenotypic expansion associated with variants in <i>MACF1</i>Nikhita Gogate, Angad Jolly, Jill A Rosenfeld, et al.
Cell|January 14, 2017
DNA Damage Signaling Instructs Polyploid Macrophage Fate in GranulomasLaura Herrtwich, Indrajit Nanda, Konstantinos Evangelou, et al.
Nature Genetics|April 22, 2014
De novo mutations in HCN1 cause early infantile epileptic encephalopathyCaroline Nava, Carine Dalle, Agnès Rastetter, et al.
Cell|August 25, 2018
DNA Damage Signaling Instructs Polyploid Macrophage Fate in GranulomasLaura Herrtwich, Indrajit Nanda, Konstantinos Evangelou, et al.
Medrxiv : the Preprint Server for Health Sciences|April 10, 2026
<i>FRMPD4</i> , a causal gene for intellectual disability and epilepsy, is associated with X-linked non-syndromic hearing lossDaniel Liedtke, Kristen Rak, Katrina M Schrode, et al.
Pageof 19