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T Thiel

Showing results (101-110 of 143) with videos related to

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Epileptic Disorders : International Epilepsy Journal with Videotape|February 21, 2019
Epilepsy surgery in the first months of life: a large type IIb focal cortical dysplasia causing neonatal drug-resistant epilepsyIngo Borggraefe, Moritz Tacke, Lucia Gerstl, et al.
Orphanet Journal of Rare Diseases|February 13, 2019
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathyMoritz Hebebrand, Ulrike Hüffmeier, Regina Trollmann, et al.
European Journal of Human Genetics : EJHG|May 1, 2018
Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short statureAntonino Montalbano, Lonny Juergensen, Maki Fukami, et al.
Plos Genetics|March 22, 2013
Rare copy number variants are a common cause of short statureDiana Zahnleiter, Steffen Uebe, Arif B Ekici, et al.
Neurogenetics|July 25, 2018
The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25Alejandro Leal, Sixto Bogantes-Ledezma, Arif B Ekici, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|May 17, 2006
Open and laparoscopic living donor nephrectomy in Switzerland: a retrospective assessment of clinical outcomes and the motivation to donateFelix Dahm, Markus Weber, Benjamin Müller, et al.
Neurobiology of Aging|May 29, 2017
Genetic analysis of VCP and WASH complex genes in a German cohort of sporadic ALS-FTD patientsMatthias Türk, Rolf Schröder, Katharina Khuller, et al.
BMC Cancer|September 28, 2018
Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteriaJuliane Hoyer, Georgia Vasileiou, Steffen Uebe, et al.
Biorxiv : the Preprint Server for Biology|March 27, 2026
Impaired motor activity in a CRISPR SCA5 L253P knock-in mouse is associated with selective β-III-spectrin subcellular redistribution in the cerebellumAdam W Avery, Brennon L O'Callaghan, Matthew T Thiel, et al.
American Journal of Medical Genetics. Part A|October 15, 2013
Biallelic SEMA3A defects cause a novel type of syndromic short statureKristin Hofmann, Markus Zweier, Heinrich Sticht, et al.
Pageof 15

Showing results (101-110 of 143) with videos related to

Sort By:
Pageof 15
Epileptic Disorders : International Epilepsy Journal with Videotape|February 21, 2019
Epilepsy surgery in the first months of life: a large type IIb focal cortical dysplasia causing neonatal drug-resistant epilepsyIngo Borggraefe, Moritz Tacke, Lucia Gerstl, et al.
Orphanet Journal of Rare Diseases|February 13, 2019
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathyMoritz Hebebrand, Ulrike Hüffmeier, Regina Trollmann, et al.
European Journal of Human Genetics : EJHG|May 1, 2018
Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short statureAntonino Montalbano, Lonny Juergensen, Maki Fukami, et al.
Plos Genetics|March 22, 2013
Rare copy number variants are a common cause of short statureDiana Zahnleiter, Steffen Uebe, Arif B Ekici, et al.
Neurogenetics|July 25, 2018
The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25Alejandro Leal, Sixto Bogantes-Ledezma, Arif B Ekici, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|May 17, 2006
Open and laparoscopic living donor nephrectomy in Switzerland: a retrospective assessment of clinical outcomes and the motivation to donateFelix Dahm, Markus Weber, Benjamin Müller, et al.
Neurobiology of Aging|May 29, 2017
Genetic analysis of VCP and WASH complex genes in a German cohort of sporadic ALS-FTD patientsMatthias Türk, Rolf Schröder, Katharina Khuller, et al.
BMC Cancer|September 28, 2018
Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteriaJuliane Hoyer, Georgia Vasileiou, Steffen Uebe, et al.
Biorxiv : the Preprint Server for Biology|March 27, 2026
Impaired motor activity in a CRISPR SCA5 L253P knock-in mouse is associated with selective β-III-spectrin subcellular redistribution in the cerebellumAdam W Avery, Brennon L O'Callaghan, Matthew T Thiel, et al.
American Journal of Medical Genetics. Part A|October 15, 2013
Biallelic SEMA3A defects cause a novel type of syndromic short statureKristin Hofmann, Markus Zweier, Heinrich Sticht, et al.
Pageof 15