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Tess Holling

Showing results (11-20 of 18) with videos related to

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Brain : a Journal of Neurology|May 26, 2021
Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasisPauline E Schneeberger, Sheela Nampoothiri, Tess Holling, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 10, 2025
Biallelic variants in the conserved ribosomal protein chaperone gene <i>PDCD2</i> are associated with hydrops fetalis and early pregnancy lossAnne-Marie Landry-Voyer, Tess Holling, Emily K Mis, et al.
European Journal of Human Genetics : EJHG|January 11, 2022
Novel biallelic variants expand the SLC5A6-related phenotypic spectrumTess Holling, Sheela Nampoothiri, Bedirhan Tarhan, et al.
Human Mutation|March 10, 2022
A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasiaTess Holling, Gandham S Bhavani, Leonie von Elsner, et al.
Brain : a Journal of Neurology|March 16, 2022
Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathyShehrazade Dahimene, Leonie von Elsner, Tess Holling, et al.
HGG Advances|April 12, 2025
Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardationBobbi McGivern, Tess Holling, Maria J Guillen Sacoto, et al.
American Journal of Human Genetics|April 10, 2026
Bi-allelic WDHD1 variants cause microcephalic primordial dwarfismDebora Tibbe, Marie Ronja Vogt, Tess Holling, et al.
Nature Genetics|March 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathiesElsa Leitão, Amandine Santini, Benjamin Cogne, et al.
Pageof 2

Showing results (11-20 of 18) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 18 results.
Brain : a Journal of Neurology|May 26, 2021
Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasisPauline E Schneeberger, Sheela Nampoothiri, Tess Holling, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 10, 2025
Biallelic variants in the conserved ribosomal protein chaperone gene <i>PDCD2</i> are associated with hydrops fetalis and early pregnancy lossAnne-Marie Landry-Voyer, Tess Holling, Emily K Mis, et al.
European Journal of Human Genetics : EJHG|January 11, 2022
Novel biallelic variants expand the SLC5A6-related phenotypic spectrumTess Holling, Sheela Nampoothiri, Bedirhan Tarhan, et al.
Human Mutation|March 10, 2022
A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasiaTess Holling, Gandham S Bhavani, Leonie von Elsner, et al.
Brain : a Journal of Neurology|March 16, 2022
Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathyShehrazade Dahimene, Leonie von Elsner, Tess Holling, et al.
HGG Advances|April 12, 2025
Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardationBobbi McGivern, Tess Holling, Maria J Guillen Sacoto, et al.
American Journal of Human Genetics|April 10, 2026
Bi-allelic WDHD1 variants cause microcephalic primordial dwarfismDebora Tibbe, Marie Ronja Vogt, Tess Holling, et al.
Nature Genetics|March 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathiesElsa Leitão, Amandine Santini, Benjamin Cogne, et al.
Pageof 2