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Cilia
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April 13, 2016
A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome
Machteld M Oud, Carine Bonnard, Dorus A Mans, et al.
Blood Immunology & Cellular Therapy
|
April 17, 2026
Viral vector-free generation of orthogonal IL-2-responsive CAR T cells through gene editing of IL-2 and its receptor
Qian Zhang, Yihao Wu, Jingyi Yang, et al.
Brain Pathology (Zurich, Switzerland)
|
March 14, 2022
Ermin deficiency leads to compromised myelin, inflammatory milieu, and susceptibility to demyelinating insult
Amin Ziaei, Marta Garcia-Miralles, Carola I Radulescu, et al.
European Journal of Medical Genetics
|
April 2, 2018
Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome
Carine Bonnard, Mohammad Shboul, Seyed Hassan Tonekaboni, et al.
American Journal of Human Genetics
|
March 21, 2017
Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita
Shifeng Xue, Jérôme Maluenda, Florent Marguet, et al.
Blood Cancer Journal
|
November 14, 2018
Whole exome sequencing identifies recessive germline mutations in FAM160A1 in familial NK/T cell lymphoma
Jason Yongsheng Chan, Alvin Yu Jin Ng, Chee Leong Cheng, et al.
American Journal of Human Genetics
|
September 9, 2017
CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays
Christian Windpassinger, Juliette Piard, Carine Bonnard, et al.
Nature Genetics
|
December 14, 2021
Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates
Emmanuelle Szenker-Ravi, Tim Ott, Muznah Khatoo, et al.
Nature Genetics
|
March 19, 2022
Publisher Correction: Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates
Emmanuelle Szenker-Ravi, Tim Ott, Muznah Khatoo, et al.
Clinical Genetics
|
January 22, 2022
Multicenter study on the genetics of glomerular diseases among southeast and south Asians: Deciphering Diversities - Renal Asian Genetics Network (DRAGoN)
Liangjian Lu, Yok-Chin Yap, Duc Quang Nguyen, et al.
Page
of 6
Search research articles
Search
Showing results (41-50 of 52) with videos related to
Sort By:
Page
of 6
Cilia
|
April 13, 2016
A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome
Machteld M Oud, Carine Bonnard, Dorus A Mans, et al.
Blood Immunology & Cellular Therapy
|
April 17, 2026
Viral vector-free generation of orthogonal IL-2-responsive CAR T cells through gene editing of IL-2 and its receptor
Qian Zhang, Yihao Wu, Jingyi Yang, et al.
Brain Pathology (Zurich, Switzerland)
|
March 14, 2022
Ermin deficiency leads to compromised myelin, inflammatory milieu, and susceptibility to demyelinating insult
Amin Ziaei, Marta Garcia-Miralles, Carola I Radulescu, et al.
European Journal of Medical Genetics
|
April 2, 2018
Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome
Carine Bonnard, Mohammad Shboul, Seyed Hassan Tonekaboni, et al.
American Journal of Human Genetics
|
March 21, 2017
Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita
Shifeng Xue, Jérôme Maluenda, Florent Marguet, et al.
Blood Cancer Journal
|
November 14, 2018
Whole exome sequencing identifies recessive germline mutations in FAM160A1 in familial NK/T cell lymphoma
Jason Yongsheng Chan, Alvin Yu Jin Ng, Chee Leong Cheng, et al.
American Journal of Human Genetics
|
September 9, 2017
CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays
Christian Windpassinger, Juliette Piard, Carine Bonnard, et al.
Nature Genetics
|
December 14, 2021
Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates
Emmanuelle Szenker-Ravi, Tim Ott, Muznah Khatoo, et al.
Nature Genetics
|
March 19, 2022
Publisher Correction: Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates
Emmanuelle Szenker-Ravi, Tim Ott, Muznah Khatoo, et al.
Clinical Genetics
|
January 22, 2022
Multicenter study on the genetics of glomerular diseases among southeast and south Asians: Deciphering Diversities - Renal Asian Genetics Network (DRAGoN)
Liangjian Lu, Yok-Chin Yap, Duc Quang Nguyen, et al.
Page
of 6