T M Strom - JoVE Visualize

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European Journal of Neurology|March 24, 2017

Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A geneM Krenn, G Zulehner, C Hotzy, et al.

Nature|December 15, 1994

Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadismF Muscatelli, T M Strom, A P Walker, et al.

Nature|December 15, 1994

An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenitaE Zanaria, F Muscatelli, B Bardoni, et al.

Clinical Genetics|September 24, 2017

Expanding the phenotype of DNAJC3 mutations: A case with hypothyroidism additionally to diabetes mellitus and multisystemic neurodegenerationS K Bublitz, B Alhaddad, M Synofzik, et al.

Proceedings of the National Academy of Sciences of the United States of America|June 9, 2005

Identification of coexpressed gene clusters in a comparative analysis of transcriptome and proteome in mouse tissuesT Mijalski, A Harder, T Halder, et al.

Molecular Psychiatry|April 28, 2001

A missense mutation in a novel gene encoding a putative cation channel is associated with catatonic schizophrenia in a large pedigreeJ Meyer, A Huberth, G Ortega, et al.

Neurology|December 13, 2006

Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutationsE Stogmann, P Lichtner, C Baumgartner, et al.

European Journal of Neurology|August 14, 2019

Genotype-guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two-step approachM Krenn, M Tomschik, J Rath, et al.

Neurogenetics|October 14, 2008

A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosisE Stogmann, S El Tawil, J Wagenstaller, et al.

Clinical Genetics|September 2, 2017

Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's diseaseB Schormair, D Kemlink, B Mollenhauer, et al.

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Showing results (21-30 of 45) with videos related to

Sort By:

Pageof 5

European Journal of Neurology|March 24, 2017

Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A geneM Krenn, G Zulehner, C Hotzy, et al.

Nature|December 15, 1994

Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadismF Muscatelli, T M Strom, A P Walker, et al.

Nature|December 15, 1994

An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenitaE Zanaria, F Muscatelli, B Bardoni, et al.

Clinical Genetics|September 24, 2017

Expanding the phenotype of DNAJC3 mutations: A case with hypothyroidism additionally to diabetes mellitus and multisystemic neurodegenerationS K Bublitz, B Alhaddad, M Synofzik, et al.

Proceedings of the National Academy of Sciences of the United States of America|June 9, 2005

Identification of coexpressed gene clusters in a comparative analysis of transcriptome and proteome in mouse tissuesT Mijalski, A Harder, T Halder, et al.

Molecular Psychiatry|April 28, 2001

A missense mutation in a novel gene encoding a putative cation channel is associated with catatonic schizophrenia in a large pedigreeJ Meyer, A Huberth, G Ortega, et al.

Neurology|December 13, 2006

Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutationsE Stogmann, P Lichtner, C Baumgartner, et al.

European Journal of Neurology|August 14, 2019

Genotype-guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two-step approachM Krenn, M Tomschik, J Rath, et al.

Neurogenetics|October 14, 2008

A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosisE Stogmann, S El Tawil, J Wagenstaller, et al.

Clinical Genetics|September 2, 2017

Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's diseaseB Schormair, D Kemlink, B Mollenhauer, et al.

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