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Karin Writzl

Showing results (11-20 of 43) with videos related to

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Orphanet Journal of Rare Diseases|February 28, 2025
TTN:c.12478del in proximal I-band of titin represents a common molecular cause of dilated cardiomyopathy in Slovenian patientsNina Vodnjov, Andraž Cerar, Aleš Maver, et al.
American Journal of Medical Genetics. Part A|October 16, 2007
LEOPARD syndrome with partly normal skin and sex chromosome mosaicismKarin Writzl, Jan Hoovers, Erik A Sistermans, et al.
Therapeutic Apheresis and Dialysis : Official Peer-Reviewed Journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy|June 18, 2016
End-Stage Renal Disease in an Infant With Hajdu-Cheney SyndromeNina Battelino, Karin Writzl, Nevenka Bratanič, et al.
American Journal of Medical Genetics. Part A|July 16, 2008
Genital anomalies in a patient with Treacher Collins syndromeKarin Writzl, Jera Jeruc, Michael Oldridge, et al.
Plos One|January 3, 2018
Diagnostic outcomes of exome sequencing in patients with syndromic or non-syndromic hearing lossTina Likar, Mensuda Hasanhodžić, Nataša Teran, et al.
Journal of Cardiovascular Translational Research|August 19, 2024
Clinical Outcome of Hypertrophic Cardiomyopathy in Probands with the Founder Variant c.913_914del in MYBPC3: A Slovenian Cohort StudyNina Vodnjov, Aleš Maver, Nataša Teran, et al.
BMC Medical Genetics|November 17, 2016
Clinical utility of array comparative genomic hybridisation in prenatal settingLuca Lovrecic, Ziga Iztok Remec, Marija Volk, et al.
Clinical Genetics|June 11, 2024
Non-dilated left ventricular cardiomyopathy with arrhythmias is commonly caused by the nonsense variant DSP:c.3793G>T in Slovenian patientsNina Vodnjov, Anja Zupan Mežnar, Aleš Maver, et al.
European Journal of Medical Genetics|August 9, 2007
Immunological abnormalities in CHARGE syndromeKarin Writzl, Catherine M Cale, Christine M Pierce, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 1, 2016
Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretationAles Maver, Luca Lovrecic, Marija Volk, et al.
Pageof 5

Showing results (11-20 of 43) with videos related to

Sort By:
Pageof 5
Orphanet Journal of Rare Diseases|February 28, 2025
TTN:c.12478del in proximal I-band of titin represents a common molecular cause of dilated cardiomyopathy in Slovenian patientsNina Vodnjov, Andraž Cerar, Aleš Maver, et al.
American Journal of Medical Genetics. Part A|October 16, 2007
LEOPARD syndrome with partly normal skin and sex chromosome mosaicismKarin Writzl, Jan Hoovers, Erik A Sistermans, et al.
Therapeutic Apheresis and Dialysis : Official Peer-Reviewed Journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy|June 18, 2016
End-Stage Renal Disease in an Infant With Hajdu-Cheney SyndromeNina Battelino, Karin Writzl, Nevenka Bratanič, et al.
American Journal of Medical Genetics. Part A|July 16, 2008
Genital anomalies in a patient with Treacher Collins syndromeKarin Writzl, Jera Jeruc, Michael Oldridge, et al.
Plos One|January 3, 2018
Diagnostic outcomes of exome sequencing in patients with syndromic or non-syndromic hearing lossTina Likar, Mensuda Hasanhodžić, Nataša Teran, et al.
Journal of Cardiovascular Translational Research|August 19, 2024
Clinical Outcome of Hypertrophic Cardiomyopathy in Probands with the Founder Variant c.913_914del in MYBPC3: A Slovenian Cohort StudyNina Vodnjov, Aleš Maver, Nataša Teran, et al.
BMC Medical Genetics|November 17, 2016
Clinical utility of array comparative genomic hybridisation in prenatal settingLuca Lovrecic, Ziga Iztok Remec, Marija Volk, et al.
Clinical Genetics|June 11, 2024
Non-dilated left ventricular cardiomyopathy with arrhythmias is commonly caused by the nonsense variant DSP:c.3793G>T in Slovenian patientsNina Vodnjov, Anja Zupan Mežnar, Aleš Maver, et al.
European Journal of Medical Genetics|August 9, 2007
Immunological abnormalities in CHARGE syndromeKarin Writzl, Catherine M Cale, Christine M Pierce, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 1, 2016
Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretationAles Maver, Luca Lovrecic, Marija Volk, et al.
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