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Human Mutation
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May 5, 2022
Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala)
Tess Holling, Jasmin Lisfeld, Jessika Johannsen, et al.
JBMR Plus
|
June 13, 2025
Assessment and treatment of osteoporosis in a patient with a neurodevelopmental disorder caused by a <i>RNU4-2</i> pathogenic variant (ReNU syndrome)
Tess Holling, Simon von Kroge, Laura Hecher, et al.
European Journal of Medical Genetics
|
January 28, 2023
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 in two new patients with the same homozygous TMCO1 variant and review of the literature
Ibrahim M Abdelrazek, Tess Holling, Frederike L Harms, et al.
The Journal of Investigative Dermatology
|
June 24, 2025
KREMEN1 Variants Associated with Ectodermal Dysplasia Impair Complex Formation of KREMEN1 with DKK1 and LRP6 and Attenuate WNT3A Response
Natascha Rosen, Tess Holling, Inken Junod, et al.
Clinical Genetics
|
May 27, 2024
Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphology
Line Aagaard Nolting, Tess Holling, Gen Nishimura, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
August 9, 2023
TMCO3, a Putative K<sup>+</sup> :Proton Antiporter at the Golgi Apparatus, Is Important for Longitudinal Growth in Mice and Humans
Tess Holling, Laura Brylka, Tasja Scholz, et al.
Journal of Human Genetics
|
July 31, 2024
A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia
Tess Holling, Ibrahim M Abdelrazek, Ghada M Elhady, et al.
International Journal of Molecular Sciences
|
September 9, 2022
Clinically Relevant <i>KCNQ1</i> Variants Causing KCNQ1-KCNE2 Gain-of-Function Affect the Ca<sup>2+</sup> Sensitivity of the Channel
Christiane K Bauer, Tess Holling, Denise Horn, et al.
Plos Genetics
|
May 8, 2018
RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1
Uta Meyer Zum Büschenfelde, Laura Isabel Brandenstein, Leonie von Elsner, et al.
HGG Advances
|
December 12, 2025
A homozygous synonymous NOP58 variant causes a neurodevelopmental disorder by impairing maturation of pre-ribosomal RNAs
Loisa D Bonde, Tess Holling, Malik Alawi, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 18) with videos related to
Sort By:
Page
of 2
Human Mutation
|
May 5, 2022
Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala)
Tess Holling, Jasmin Lisfeld, Jessika Johannsen, et al.
JBMR Plus
|
June 13, 2025
Assessment and treatment of osteoporosis in a patient with a neurodevelopmental disorder caused by a <i>RNU4-2</i> pathogenic variant (ReNU syndrome)
Tess Holling, Simon von Kroge, Laura Hecher, et al.
European Journal of Medical Genetics
|
January 28, 2023
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 in two new patients with the same homozygous TMCO1 variant and review of the literature
Ibrahim M Abdelrazek, Tess Holling, Frederike L Harms, et al.
The Journal of Investigative Dermatology
|
June 24, 2025
KREMEN1 Variants Associated with Ectodermal Dysplasia Impair Complex Formation of KREMEN1 with DKK1 and LRP6 and Attenuate WNT3A Response
Natascha Rosen, Tess Holling, Inken Junod, et al.
Clinical Genetics
|
May 27, 2024
Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphology
Line Aagaard Nolting, Tess Holling, Gen Nishimura, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
August 9, 2023
TMCO3, a Putative K<sup>+</sup> :Proton Antiporter at the Golgi Apparatus, Is Important for Longitudinal Growth in Mice and Humans
Tess Holling, Laura Brylka, Tasja Scholz, et al.
Journal of Human Genetics
|
July 31, 2024
A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia
Tess Holling, Ibrahim M Abdelrazek, Ghada M Elhady, et al.
International Journal of Molecular Sciences
|
September 9, 2022
Clinically Relevant <i>KCNQ1</i> Variants Causing KCNQ1-KCNE2 Gain-of-Function Affect the Ca<sup>2+</sup> Sensitivity of the Channel
Christiane K Bauer, Tess Holling, Denise Horn, et al.
Plos Genetics
|
May 8, 2018
RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1
Uta Meyer Zum Büschenfelde, Laura Isabel Brandenstein, Leonie von Elsner, et al.
HGG Advances
|
December 12, 2025
A homozygous synonymous NOP58 variant causes a neurodevelopmental disorder by impairing maturation of pre-ribosomal RNAs
Loisa D Bonde, Tess Holling, Malik Alawi, et al.
Page
of 2