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Andrea Superti-Furga

Showing results (121-130 of 234) with videos related to

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European Journal of Medical Genetics|September 26, 2022
The «Amish» NM_000256.3:c.3330+2T>G splice variant in MYBPC3 associated with hypertrophic cardiomyopathy is an ancient Swiss mutationClaire Redin, Despina Christina Pavlidou, Zahurul Bhuiyan, et al.
Thrombosis and Haemostasis|July 30, 2011
Deletion of human GP1BB and SEPT5 is associated with Bernard-Soulier syndrome, platelet secretion defect, polymicrogyria, and developmental delayIngrid Bartsch, Kirstin Sandrock, Francois Lanza, et al.
Blood|August 30, 2008
Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiencyCarsten Speckmann, Ulrich Pannicke, Elisabeth Wiech, et al.
Annals of Clinical and Translational Neurology|June 19, 2019
Peripheral neuropathy and cognitive impairment associated with a novel monoallelic <i>HARS</i> variantBéryl Royer-Bertrand, Pinelopi Tsouni, Patrick Mullen, et al.
Journal of Medical Genetics|April 3, 2007
The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian typeGen Nishimura, Eiji Nakashima, Yuichiro Hirose, et al.
American Journal of Medical Genetics. Part A|July 6, 2026
Biallelic Variants in MIMS1 Produce a Form of Spondyloepimetaphyseal Dysplasia With Tracheal Stenosis and Ectodermal Dysplasia (SEMDTSED)Abdullah Sezer, Mathieu Quinodoz, Bing Li, et al.
The EMBO Journal|December 2, 2024
De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorderMathieu Quinodoz, Sonja Rutz, Virginie Peter, et al.
Developmental Cell|May 20, 2020
Ligand Binding to the Collagen VI Receptor Triggers a Talin-to-RhoA Switch that Regulates Receptor EndocytosisJérôme Bürgi, Laurence Abrami, Irinka Castanon, et al.
Human Molecular Genetics|November 2, 2014
A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathiesRanad Shaheen, Miriam Schmidts, Eissa Faqeih, et al.
American Journal of Medical Genetics. Part A|July 19, 2012
Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasiaLivia Garavelli, Giancarlo Gargano, Graziella Simonte, et al.
Pageof 24

Showing results (121-130 of 234) with videos related to

Sort By:
Pageof 24
European Journal of Medical Genetics|September 26, 2022
The «Amish» NM_000256.3:c.3330+2T>G splice variant in MYBPC3 associated with hypertrophic cardiomyopathy is an ancient Swiss mutationClaire Redin, Despina Christina Pavlidou, Zahurul Bhuiyan, et al.
Thrombosis and Haemostasis|July 30, 2011
Deletion of human GP1BB and SEPT5 is associated with Bernard-Soulier syndrome, platelet secretion defect, polymicrogyria, and developmental delayIngrid Bartsch, Kirstin Sandrock, Francois Lanza, et al.
Blood|August 30, 2008
Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiencyCarsten Speckmann, Ulrich Pannicke, Elisabeth Wiech, et al.
Annals of Clinical and Translational Neurology|June 19, 2019
Peripheral neuropathy and cognitive impairment associated with a novel monoallelic <i>HARS</i> variantBéryl Royer-Bertrand, Pinelopi Tsouni, Patrick Mullen, et al.
Journal of Medical Genetics|April 3, 2007
The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian typeGen Nishimura, Eiji Nakashima, Yuichiro Hirose, et al.
American Journal of Medical Genetics. Part A|July 6, 2026
Biallelic Variants in MIMS1 Produce a Form of Spondyloepimetaphyseal Dysplasia With Tracheal Stenosis and Ectodermal Dysplasia (SEMDTSED)Abdullah Sezer, Mathieu Quinodoz, Bing Li, et al.
The EMBO Journal|December 2, 2024
De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorderMathieu Quinodoz, Sonja Rutz, Virginie Peter, et al.
Developmental Cell|May 20, 2020
Ligand Binding to the Collagen VI Receptor Triggers a Talin-to-RhoA Switch that Regulates Receptor EndocytosisJérôme Bürgi, Laurence Abrami, Irinka Castanon, et al.
Human Molecular Genetics|November 2, 2014
A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathiesRanad Shaheen, Miriam Schmidts, Eissa Faqeih, et al.
American Journal of Medical Genetics. Part A|July 19, 2012
Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasiaLivia Garavelli, Giancarlo Gargano, Graziella Simonte, et al.
Pageof 24