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T Thiel

Showing results (91-100 of 143) with videos related to

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Molecular Genetics and Metabolism|April 16, 2008
Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson-Mendenhall syndromeChristian T Thiel, Birgit Knebel, Ina Knerr, et al.
European Journal of Medical Genetics|April 25, 2008
A de novo 7.6Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delayChristian T Thiel, Helmuth-Günther Dörr, Udo Trautmann, et al.
European Journal of Medical Genetics|February 7, 2018
Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndromeLuitgard M Graul-Neumann, Martin A Mensah, Eva Klopocki, et al.
Neuroscience Letters|April 3, 2007
Evidence of disturbed amygdalar energy metabolism in patients with borderline personality disorderL Tebartz van Elst, P Ludaescher, T Thiel, et al.
American Journal of Medical Genetics. Part A|August 20, 2013
A new form of severe spondyloepimetaphyseal dysplasia: clinical and radiological characterizationBertrand Isidor, Loïc Geffroy, Benoît de Courtivron, et al.
Journal of Medical Genetics|April 16, 2005
Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2A Rauch, S Zink, C Zweier, et al.
Acta Neuropathologica Communications|April 29, 2016
Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophyLilli Winter, Matthias Türk, Patrick N Harter, et al.
European Journal of Medical Genetics|July 6, 2020
A case of severe autosomal recessive spinocerebellar ataxia type 18 with a novel nonsense variant in GRID2Katalin L M L Hetzelt, Cornelia Kraus, Stefan Kusnik, et al.
Cancer Cell|February 18, 2010
MLL-AF9-induced leukemogenesis requires coexpression of the wild-type Mll alleleAustin T Thiel, Peter Blessington, Tao Zou, et al.
The Journal of Biological Chemistry|June 8, 2025
Molecular consequences of SCA5 mutations in the spectrin-repeat domains of β-III-spectrinSarah A Denha, Naomi R DeLaet, Abeer W Abukamil, et al.
Pageof 15

Showing results (91-100 of 143) with videos related to

Sort By:
Pageof 15
Molecular Genetics and Metabolism|April 16, 2008
Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson-Mendenhall syndromeChristian T Thiel, Birgit Knebel, Ina Knerr, et al.
European Journal of Medical Genetics|April 25, 2008
A de novo 7.6Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delayChristian T Thiel, Helmuth-Günther Dörr, Udo Trautmann, et al.
European Journal of Medical Genetics|February 7, 2018
Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndromeLuitgard M Graul-Neumann, Martin A Mensah, Eva Klopocki, et al.
Neuroscience Letters|April 3, 2007
Evidence of disturbed amygdalar energy metabolism in patients with borderline personality disorderL Tebartz van Elst, P Ludaescher, T Thiel, et al.
American Journal of Medical Genetics. Part A|August 20, 2013
A new form of severe spondyloepimetaphyseal dysplasia: clinical and radiological characterizationBertrand Isidor, Loïc Geffroy, Benoît de Courtivron, et al.
Journal of Medical Genetics|April 16, 2005
Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2A Rauch, S Zink, C Zweier, et al.
Acta Neuropathologica Communications|April 29, 2016
Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophyLilli Winter, Matthias Türk, Patrick N Harter, et al.
European Journal of Medical Genetics|July 6, 2020
A case of severe autosomal recessive spinocerebellar ataxia type 18 with a novel nonsense variant in GRID2Katalin L M L Hetzelt, Cornelia Kraus, Stefan Kusnik, et al.
Cancer Cell|February 18, 2010
MLL-AF9-induced leukemogenesis requires coexpression of the wild-type Mll alleleAustin T Thiel, Peter Blessington, Tao Zou, et al.
The Journal of Biological Chemistry|June 8, 2025
Molecular consequences of SCA5 mutations in the spectrin-repeat domains of β-III-spectrinSarah A Denha, Naomi R DeLaet, Abeer W Abukamil, et al.
Pageof 15