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European Journal of Human Genetics : EJHG
|
November 8, 2021
Combining callers improves the detection of copy number variants from whole-genome sequencing
Marie Coutelier, Manuel Holtgrewe, Marten Jäger, et al.
European Journal of Human Genetics : EJHG
|
June 5, 2024
Quality assurance for next-generation sequencing diagnostics of rare neurological diseases in the European Reference Network
Aleš Maver, Katja Lohmann, Fran Borovečki, et al.
BMC Surgery
|
March 4, 2008
Enhanced susceptibility to infections in a diabetic wound healing model
Tobias Hirsch, Malte Spielmann, Baraa Zuhaili, et al.
Frontiers in Oncology
|
June 29, 2023
Clonal evolution in tyrosine kinase inhibitor-resistance: lessons from <i>in vitro</i>-models
Meike Kaehler, Pia Osteresch, Axel Künstner, et al.
European Journal of Medical Genetics
|
April 29, 2023
Phenotypic specificity in patients with neurodevelopmental delay does not correlate with diagnostic yield of trio-exome sequencing
Nadja Baalmann, Malte Spielmann, Gabriele Gillessen-Kaesbach, et al.
The Journal of Gene Medicine
|
December 31, 2008
Human beta-defensin-3 promotes wound healing in infected diabetic wounds
Tobias Hirsch, Malte Spielmann, Baraa Zuhaili, et al.
Nature
|
March 27, 2023
Formin-mediated nuclear actin at androgen receptors promotes transcription
Julian Knerr, Ralf Werner, Carsten Schwan, et al.
Clinical Genetics
|
September 5, 2021
GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C-terminal third
Henrike Lisa Sczakiel, Wiebke Hülsemann, Manuel Holtgrewe, et al.
Orphanet Journal of Rare Diseases
|
September 19, 2014
Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families
Naeimeh Tayebi, Aleksander Jamsheer, Ricarda Flöttmann, et al.
Journal of Internal Medicine
|
May 22, 2023
Precision medicine in rare diseases: What is next?
Bianca Tesi, Catherine Boileau, Kym M Boycott, et al.
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of 14
Search research articles
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Showing results (51-60 of 135) with videos related to
Sort By:
Page
of 14
European Journal of Human Genetics : EJHG
|
November 8, 2021
Combining callers improves the detection of copy number variants from whole-genome sequencing
Marie Coutelier, Manuel Holtgrewe, Marten Jäger, et al.
European Journal of Human Genetics : EJHG
|
June 5, 2024
Quality assurance for next-generation sequencing diagnostics of rare neurological diseases in the European Reference Network
Aleš Maver, Katja Lohmann, Fran Borovečki, et al.
BMC Surgery
|
March 4, 2008
Enhanced susceptibility to infections in a diabetic wound healing model
Tobias Hirsch, Malte Spielmann, Baraa Zuhaili, et al.
Frontiers in Oncology
|
June 29, 2023
Clonal evolution in tyrosine kinase inhibitor-resistance: lessons from <i>in vitro</i>-models
Meike Kaehler, Pia Osteresch, Axel Künstner, et al.
European Journal of Medical Genetics
|
April 29, 2023
Phenotypic specificity in patients with neurodevelopmental delay does not correlate with diagnostic yield of trio-exome sequencing
Nadja Baalmann, Malte Spielmann, Gabriele Gillessen-Kaesbach, et al.
The Journal of Gene Medicine
|
December 31, 2008
Human beta-defensin-3 promotes wound healing in infected diabetic wounds
Tobias Hirsch, Malte Spielmann, Baraa Zuhaili, et al.
Nature
|
March 27, 2023
Formin-mediated nuclear actin at androgen receptors promotes transcription
Julian Knerr, Ralf Werner, Carsten Schwan, et al.
Clinical Genetics
|
September 5, 2021
GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C-terminal third
Henrike Lisa Sczakiel, Wiebke Hülsemann, Manuel Holtgrewe, et al.
Orphanet Journal of Rare Diseases
|
September 19, 2014
Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families
Naeimeh Tayebi, Aleksander Jamsheer, Ricarda Flöttmann, et al.
Journal of Internal Medicine
|
May 22, 2023
Precision medicine in rare diseases: What is next?
Bianca Tesi, Catherine Boileau, Kym M Boycott, et al.
Page
of 14