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European Journal of Medical Genetics|April 9, 2013
Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutationsTatjana Bierhals, Georg Christoph Korenke, Gökhan Uyanik, et al.American Journal of Medical Genetics. Part A|January 12, 2013
Expanding the phenotype associated with 17q12 duplication: case report and review of the literatureTatjana Bierhals, Satish Babu Maddukuri, Kerstin Kutsche, et al.Scientific Reports|August 31, 2019
de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activationPauline E Schneeberger, Tatjana Bierhals, Axel Neu, et al.Neuropediatrics|August 21, 2020
The Clinical Picture of a Bilateral Perisylvian Syndrome as the Initial Symptom of Mega-Corpus-Callosum Syndrome due to a MAST1-Gene MutationLaura Hecher, Jessika Johannsen, Tatjana Bierhals, et al.American Journal of Medical Genetics. Part A|December 22, 2023
A novel TTC26 variant in a patient with hexadactyly, pituitary stalk interruption, hepatopathy, nephropathy, and bilateral lip-palate cleft: A case report and expansion of the phenotypeDzhoy Papingi, Tatjana Bierhals, Alexander E Volk, et al.European Journal of Medical Genetics|January 26, 2018
Novel DCC variants in congenital mirror movements and evaluation of disease-associated missense variantsTatjana Bierhals, Georg Christoph Korenke, Martina Baethmann, et al.Journal of Pediatric Genetics|November 6, 2019
Excessive Seizure Clusters in an Otherwise Well-Controlled Epilepsy as a Possible Hallmark of Untreated Vitamin B6-Responsive Epilepsy due to a Homozygous PLPBP Missense VariantJessika Johannsen, Tatjana Bierhals, Philipp Deindl, 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+ :Proton Antiporter at the Golgi Apparatus, Is Important for Longitudinal Growth in Mice and HumansTess Holling, Laura Brylka, Tasja Scholz, et al.Frontiers in Neurology|July 24, 2025
Prolonged apnea in a boy with epilepsy and a novel gain-of-function missense CACNA1A variant indicating SUDEP riskSimone Pelizzari, Marta Campiglio, Yousra El Ghaleb, et al.Human Genetics|April 10, 2019
Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotypeKatja Kloth, Tatjana Bierhals, Jessika Johannsen, et al.Pageof 5