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Neuromuscular Disorders : NMD
|
June 23, 2009
Hereditary motor and sensory neuropathy caused by a novel mutation in LITAF
Wanda Maria Gerding, Judith Koetting, Jörg Thomas Epplen, et al.
Neurology
|
January 14, 2015
Excessive brain iron accumulation in spinocerebellar ataxia type 17
Jens Claassen, Wanda Maria Gerding, Oliver Kastrup, et al.
BMC Neurology
|
January 11, 2018
Frequency of SCA8, SCA10, SCA12, SCA36, FXTAS and C9orf72 repeat expansions in SCA patients negative for the most common SCA subtypes
Gülsah Aydin, Gabriele Dekomien, Sabine Hoffjan, et al.
Genes
|
March 29, 2023
Optical Genome Mapping Reveals and Characterizes Recurrent Aberrations and New Fusion Genes in Adult ALL
Lisa-Marie Vieler, Verena Nilius-Eliliwi, Roland Schroers, et al.
Frontiers in Cardiovascular Medicine
|
February 18, 2025
Unusual hypertrophic cardiomyopathy: case report of an early onset wild-type ATTR amyloidosis accompanied by a chromosomal duplication involving the <i>MYH6</i> and <i>MYH7</i> gene
Jassin Hamidi, Yvonne Hanel, Sven Dittmann, et al.
Cancers
|
June 10, 2023
Novel
Marco Tembrink, Wanda Maria Gerding, Stefan Wieczorek, et al.
Cells
|
June 5, 2019
bHLH Transcription Factor Math6 Antagonizes TGF-β Signalling in Reprogramming, Pluripotency and Early Cell Fate Decisions
Satya Srirama Karthik Divvela, Patrick Nell, Markus Napirei, et al.
Genes
|
June 27, 2024
Optical Genome Mapping Reveals Disruption of the <i>RASGRF2</i> Gene in a Patient with Developmental Delay Carrying a De Novo Balanced Reciprocal Translocation
Rosa Catalina Lederbogen, Sabine Hoffjan, Charlotte Thiels, et al.
Molecular and Cellular Probes
|
February 7, 2013
Hereditary motor and sensory neuropathy (HMSN) type X1 in an Argentinean family reveals independent GJB1/Cx32 mutations at the identical nucleotide position
Wanda Maria Gerding, Judith Koetting, Lucía Paola Rey, et al.
Frontiers in Oncology
|
September 26, 2022
Broad genomic workup including optical genome mapping uncovers a <i>DDX3X</i>: <i>MLLT10</i> gene fusion in acute myeloid leukemia
Verena Nilius-Eliliwi, Marco Tembrink, Wanda Maria Gerding, et al.
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of 1
Search research articles
Search
Showing results (1-10 of 10) with videos related to
Sort By:
Page
of 1
Neuromuscular Disorders : NMD
|
June 23, 2009
Hereditary motor and sensory neuropathy caused by a novel mutation in LITAF
Wanda Maria Gerding, Judith Koetting, Jörg Thomas Epplen, et al.
Neurology
|
January 14, 2015
Excessive brain iron accumulation in spinocerebellar ataxia type 17
Jens Claassen, Wanda Maria Gerding, Oliver Kastrup, et al.
BMC Neurology
|
January 11, 2018
Frequency of SCA8, SCA10, SCA12, SCA36, FXTAS and C9orf72 repeat expansions in SCA patients negative for the most common SCA subtypes
Gülsah Aydin, Gabriele Dekomien, Sabine Hoffjan, et al.
Genes
|
March 29, 2023
Optical Genome Mapping Reveals and Characterizes Recurrent Aberrations and New Fusion Genes in Adult ALL
Lisa-Marie Vieler, Verena Nilius-Eliliwi, Roland Schroers, et al.
Frontiers in Cardiovascular Medicine
|
February 18, 2025
Unusual hypertrophic cardiomyopathy: case report of an early onset wild-type ATTR amyloidosis accompanied by a chromosomal duplication involving the <i>MYH6</i> and <i>MYH7</i> gene
Jassin Hamidi, Yvonne Hanel, Sven Dittmann, et al.
Cancers
|
June 10, 2023
Novel
Marco Tembrink, Wanda Maria Gerding, Stefan Wieczorek, et al.
Cells
|
June 5, 2019
bHLH Transcription Factor Math6 Antagonizes TGF-β Signalling in Reprogramming, Pluripotency and Early Cell Fate Decisions
Satya Srirama Karthik Divvela, Patrick Nell, Markus Napirei, et al.
Genes
|
June 27, 2024
Optical Genome Mapping Reveals Disruption of the <i>RASGRF2</i> Gene in a Patient with Developmental Delay Carrying a De Novo Balanced Reciprocal Translocation
Rosa Catalina Lederbogen, Sabine Hoffjan, Charlotte Thiels, et al.
Molecular and Cellular Probes
|
February 7, 2013
Hereditary motor and sensory neuropathy (HMSN) type X1 in an Argentinean family reveals independent GJB1/Cx32 mutations at the identical nucleotide position
Wanda Maria Gerding, Judith Koetting, Lucía Paola Rey, et al.
Frontiers in Oncology
|
September 26, 2022
Broad genomic workup including optical genome mapping uncovers a <i>DDX3X</i>: <i>MLLT10</i> gene fusion in acute myeloid leukemia
Verena Nilius-Eliliwi, Marco Tembrink, Wanda Maria Gerding, et al.
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of 1