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Human Molecular Genetics|May 24, 2014

ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variantJulia Haupt, Alexandra Deichsel, Katja Stange, et al.

American Journal of Medical Genetics. Part A|February 7, 2015

Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a FOXI3 deletionElisa Tassano, Vidhya Jagannathan, Cord Drögemüller, et al.

Molecular Genetics and Metabolism|February 9, 2021

Morquio B disease: From pathophysiology towards diagnosisAnna Caciotti, Lucrezia Cellai, Rodolfo Tonin, et al.

Acta Paediatrica (Oslo, Norway : 1992)|September 23, 2018

International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcomeRossella Parini, Alexander Broomfield, Maureen A Cleary, et al.

Clinical Genetics|September 10, 2019

Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment conceptsInsa Buers, Ivana Persico, Lara Schöning, et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|July 4, 2006

Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvementAlessandra Pangrazio, Pietro Luigi Poliani, André Megarbane, et al.

BMC Medical Genetics|May 9, 2019

VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotypeChiara Begliuomini, Giorgio Magli, Maja Di Rocco, et al.

Plos Genetics|December 7, 2016

Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain PerceptionDeborah Chiabrando, Marco Castori, Maja di Rocco, et al.

Pediatric Neurology|March 1, 2006

Agenesis of the corpus callosum: clinical and genetic study in 63 young patientsMaria Francesca Bedeschi, Maria Clara Bonaglia, Rita Grasso, et al.

Human Mutation|January 28, 2010

Enigmatic in vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in Hunter syndromeSusanna Lualdi, Barbara Tappino, Marco Di Duca, et al.

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Showing results (61-70 of 132) with videos related to

Sort By:

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Human Molecular Genetics|May 24, 2014

ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variantJulia Haupt, Alexandra Deichsel, Katja Stange, et al.

American Journal of Medical Genetics. Part A|February 7, 2015

Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a FOXI3 deletionElisa Tassano, Vidhya Jagannathan, Cord Drögemüller, et al.

Molecular Genetics and Metabolism|February 9, 2021

Morquio B disease: From pathophysiology towards diagnosisAnna Caciotti, Lucrezia Cellai, Rodolfo Tonin, et al.

Acta Paediatrica (Oslo, Norway : 1992)|September 23, 2018

International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcomeRossella Parini, Alexander Broomfield, Maureen A Cleary, et al.

Clinical Genetics|September 10, 2019

Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment conceptsInsa Buers, Ivana Persico, Lara Schöning, et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|July 4, 2006

Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvementAlessandra Pangrazio, Pietro Luigi Poliani, André Megarbane, et al.

BMC Medical Genetics|May 9, 2019

VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotypeChiara Begliuomini, Giorgio Magli, Maja Di Rocco, et al.

Plos Genetics|December 7, 2016

Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain PerceptionDeborah Chiabrando, Marco Castori, Maja di Rocco, et al.

Pediatric Neurology|March 1, 2006

Agenesis of the corpus callosum: clinical and genetic study in 63 young patientsMaria Francesca Bedeschi, Maria Clara Bonaglia, Rita Grasso, et al.

Human Mutation|January 28, 2010

Enigmatic in vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in Hunter syndromeSusanna Lualdi, Barbara Tappino, Marco Di Duca, et al.

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