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European Journal of Human Genetics : EJHG
|
March 3, 2016
A polymorphic Alu insertion that mediates distinct disease-associated deletions
Amir Jahic, Anne K Erichsen, Thomas Deufel, et al.
Human Mutation
|
December 24, 2016
Doublet-Mediated DNA Rearrangement-A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions
Amir Jahic, Sophie Hinreiner, Werner Emberger, et al.
International Journal of Molecular Sciences
|
May 11, 2024
<i>SPAST</i> Intragenic CNVs Lead to Hereditary Spastic Paraplegia via a Haploinsufficiency Mechanism
Ewelina Elert-Dobkowska, Iwona Stepniak, Wiktoria Radziwonik-Fraczyk, et al.
Molecular and Cellular Probes
|
August 25, 2018
Development and validation of a TTR-specific copy number screening tool, and application to potentially relevant patient cohorts
Amir Jahic, Andrea Bock, Franz Duca, et al.
Human Genome Variation
|
October 22, 2016
Maternal mosaicism for <i>IDUA</i> deletion clarifies recurrence risk in MPS I
Catherine Breen, Jean Mercer, Simon A Jones, et al.
International Journal of Laboratory Hematology
|
March 20, 2025
Sysmex XN-Based Evaluation of the Diagnostic Performance of High-Fluorescent Cells From CSF as a Supportive Diagnostic Criterion in Neurological Diseases
Benedict Schwarz, Christopher Hardt, Katharina Friedrich, et al.
Journal of the Neurological Sciences
|
December 3, 2014
A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8
Amir Jahic, Friedmar Kreuz, Pia Zacher, et al.
Analytical Biochemistry
|
January 7, 2012
MLPA-based evidence for sequence gain: pitfalls in confirmation and necessity for exclusion of false positives
Rita-Eva Varga, Rizwan Mumtaz, Amir Jahic, et al.
Human Mutation
|
November 11, 2017
A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3'UTR-encoded, aggregation-inducing motif
Andrea S Bock, Sven Günther, Julia Mohr, et al.
Molecular Genetics & Genomic Medicine
|
July 19, 2019
"Missing mutations" in MPS I: Identification of two novel copy number variations by an IDUA-specific in house MLPA assay
Amir Jahic, Sven Günther, Nicole Muschol, et al.
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Search research articles
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Showing results (1-10 of 16) with videos related to
Sort By:
Page
of 2
European Journal of Human Genetics : EJHG
|
March 3, 2016
A polymorphic Alu insertion that mediates distinct disease-associated deletions
Amir Jahic, Anne K Erichsen, Thomas Deufel, et al.
Human Mutation
|
December 24, 2016
Doublet-Mediated DNA Rearrangement-A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions
Amir Jahic, Sophie Hinreiner, Werner Emberger, et al.
International Journal of Molecular Sciences
|
May 11, 2024
<i>SPAST</i> Intragenic CNVs Lead to Hereditary Spastic Paraplegia via a Haploinsufficiency Mechanism
Ewelina Elert-Dobkowska, Iwona Stepniak, Wiktoria Radziwonik-Fraczyk, et al.
Molecular and Cellular Probes
|
August 25, 2018
Development and validation of a TTR-specific copy number screening tool, and application to potentially relevant patient cohorts
Amir Jahic, Andrea Bock, Franz Duca, et al.
Human Genome Variation
|
October 22, 2016
Maternal mosaicism for <i>IDUA</i> deletion clarifies recurrence risk in MPS I
Catherine Breen, Jean Mercer, Simon A Jones, et al.
International Journal of Laboratory Hematology
|
March 20, 2025
Sysmex XN-Based Evaluation of the Diagnostic Performance of High-Fluorescent Cells From CSF as a Supportive Diagnostic Criterion in Neurological Diseases
Benedict Schwarz, Christopher Hardt, Katharina Friedrich, et al.
Journal of the Neurological Sciences
|
December 3, 2014
A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8
Amir Jahic, Friedmar Kreuz, Pia Zacher, et al.
Analytical Biochemistry
|
January 7, 2012
MLPA-based evidence for sequence gain: pitfalls in confirmation and necessity for exclusion of false positives
Rita-Eva Varga, Rizwan Mumtaz, Amir Jahic, et al.
Human Mutation
|
November 11, 2017
A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3'UTR-encoded, aggregation-inducing motif
Andrea S Bock, Sven Günther, Julia Mohr, et al.
Molecular Genetics & Genomic Medicine
|
July 19, 2019
"Missing mutations" in MPS I: Identification of two novel copy number variations by an IDUA-specific in house MLPA assay
Amir Jahic, Sven Günther, Nicole Muschol, et al.
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of 2