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Christian Beetz

Showing results (141-150 of 160) with videos related to

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Medrxiv : the Preprint Server for Health Sciences|May 15, 2024
Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorderGabriel Aughey, Elisa Cali, Reza Maroofian, et al.
American Journal of Human Genetics|December 19, 2024
Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotypeThomas B Smith, Robert Kopajtich, Leigh A M Demain, et al.
Journal of the American Society of Nephrology : JASN|August 23, 2014
Urinary tract effects of HPSE2 mutationsHelen M Stuart, Neil A Roberts, Emma N Hilton, et al.
European Journal of Human Genetics : EJHG|September 9, 2020
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndromeShereen G Ghosh, Marcello Scala, Christian Beetz, et al.
American Journal of Human Genetics|December 14, 2020
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signalingYuh-Charn Lin, Marcello Niceta, Valentina Muto, et al.
Brain : a Journal of Neurology|October 4, 2021
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathyDana Marafi, Jawid M Fatih, Rauan Kaiyrzhanov, et al.
American Journal of Human Genetics|January 3, 2025
CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humansEmmanuelle Szenker-Ravi, Tim Ott, Amirah Yusof, et al.
Neurology|November 4, 2020
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on <i>MME</i>Jan Senderek, Petra Lassuthova, Dagmara Kabzińska, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 10, 2021
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomaliesMaria Iqbal, Reza Maroofian, Büşranur Çavdarlı, et al.
Brain : a Journal of Neurology|February 9, 2021
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathyAlistair T Pagnamenta, Rauan Kaiyrzhanov, Yaqun Zou, et al.
Pageof 16

Showing results (141-150 of 160) with videos related to

Sort By:
Pageof 16
Medrxiv : the Preprint Server for Health Sciences|May 15, 2024
Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorderGabriel Aughey, Elisa Cali, Reza Maroofian, et al.
American Journal of Human Genetics|December 19, 2024
Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotypeThomas B Smith, Robert Kopajtich, Leigh A M Demain, et al.
Journal of the American Society of Nephrology : JASN|August 23, 2014
Urinary tract effects of HPSE2 mutationsHelen M Stuart, Neil A Roberts, Emma N Hilton, et al.
European Journal of Human Genetics : EJHG|September 9, 2020
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndromeShereen G Ghosh, Marcello Scala, Christian Beetz, et al.
American Journal of Human Genetics|December 14, 2020
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signalingYuh-Charn Lin, Marcello Niceta, Valentina Muto, et al.
Brain : a Journal of Neurology|October 4, 2021
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathyDana Marafi, Jawid M Fatih, Rauan Kaiyrzhanov, et al.
American Journal of Human Genetics|January 3, 2025
CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humansEmmanuelle Szenker-Ravi, Tim Ott, Amirah Yusof, et al.
Neurology|November 4, 2020
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on <i>MME</i>Jan Senderek, Petra Lassuthova, Dagmara Kabzińska, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 10, 2021
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomaliesMaria Iqbal, Reza Maroofian, Büşranur Çavdarlı, et al.
Brain : a Journal of Neurology|February 9, 2021
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathyAlistair T Pagnamenta, Rauan Kaiyrzhanov, Yaqun Zou, et al.
Pageof 16