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Alexander Hoischen

Showing results (81-90 of 249) with videos related to

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American Journal of Human Genetics|March 1, 2011
Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfectaJutta Becker, Oliver Semler, Christian Gilissen, et al.
Genetics in Medicine Open|December 13, 2024
A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangementsJakob Schuy, Kristine Bilgrav Sæther, Jasmin Lisfeld, et al.
American Journal of Human Genetics|September 7, 2010
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndromeChristian Gilissen, Heleen H Arts, Alexander Hoischen, et al.
The Journal of Clinical Endocrinology and Metabolism|December 26, 2019
Arterial Wall Inflammation and Increased Hematopoietic Activity in Patients With Primary AldosteronismCharlotte D C C van der Heijden, Esther M M Smeets, Erik H J G Aarntzen, et al.
European Journal of Human Genetics : EJHG|July 12, 2020
Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disordersIlse M van der Werf, Sandra Jansen, Petra F de Vries, et al.
European Journal of Human Genetics : EJHG|August 25, 2016
Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genesEdgar S Wills, Wybrich R Cnossen, Joris A Veltman, et al.
Genome Medicine|May 9, 2023
Comprehensive de novo mutation discovery with HiFi long-read sequencingErdi Kucuk, Bart P G H van der Sanden, Luke O'Gorman, et al.
American Journal of Medical Genetics. Part A|March 29, 2014
Early presentation of cystic kidneys in a family with a homozygous INVS mutationMachteld M Oud, Bregje W van Bon, Ernie M H F Bongers, et al.
Circulation Research|April 4, 2020
Catecholamines Induce Trained Immunity in Monocytes In Vitro and In VivoCharlotte D C C van der Heijden, Laszlo Groh, Samuel T Keating, et al.
Genes|November 27, 2019
Genetic Spectrum of <i>ABCA4</i>-Associated Retinal Degeneration in PolandAnna M Tracewska, Beata Kocyła-Karczmarewicz, Agnieszka Rafalska, et al.
Pageof 25

Showing results (81-90 of 249) with videos related to

Sort By:
Pageof 25
American Journal of Human Genetics|March 1, 2011
Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfectaJutta Becker, Oliver Semler, Christian Gilissen, et al.
Genetics in Medicine Open|December 13, 2024
A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangementsJakob Schuy, Kristine Bilgrav Sæther, Jasmin Lisfeld, et al.
American Journal of Human Genetics|September 7, 2010
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndromeChristian Gilissen, Heleen H Arts, Alexander Hoischen, et al.
The Journal of Clinical Endocrinology and Metabolism|December 26, 2019
Arterial Wall Inflammation and Increased Hematopoietic Activity in Patients With Primary AldosteronismCharlotte D C C van der Heijden, Esther M M Smeets, Erik H J G Aarntzen, et al.
European Journal of Human Genetics : EJHG|July 12, 2020
Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disordersIlse M van der Werf, Sandra Jansen, Petra F de Vries, et al.
European Journal of Human Genetics : EJHG|August 25, 2016
Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genesEdgar S Wills, Wybrich R Cnossen, Joris A Veltman, et al.
Genome Medicine|May 9, 2023
Comprehensive de novo mutation discovery with HiFi long-read sequencingErdi Kucuk, Bart P G H van der Sanden, Luke O'Gorman, et al.
American Journal of Medical Genetics. Part A|March 29, 2014
Early presentation of cystic kidneys in a family with a homozygous INVS mutationMachteld M Oud, Bregje W van Bon, Ernie M H F Bongers, et al.
Circulation Research|April 4, 2020
Catecholamines Induce Trained Immunity in Monocytes In Vitro and In VivoCharlotte D C C van der Heijden, Laszlo Groh, Samuel T Keating, et al.
Genes|November 27, 2019
Genetic Spectrum of <i>ABCA4</i>-Associated Retinal Degeneration in PolandAnna M Tracewska, Beata Kocyła-Karczmarewicz, Agnieszka Rafalska, et al.
Pageof 25