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Annick Raas-Rothschild

Showing results (11-20 of 89) with videos related to

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Harefuah|June 22, 2016
[RARE DISEASES DTC: DIAGNOSIS, TREATMENT AND CARE]Joseph Mendlovic, Hila Barash, Hadar Yardeni, et al.
American Journal of Medical Genetics. Part A|July 9, 2011
Complex chromosomal rearrangement in a girl with psychomotor-retardation and a de novo inversion: inv(2)(p15;q24.2)Einat Granot-Hershkovitz, Annick Raas-Rothschild, Ayala Frumkin, et al.
American Journal of Medical Genetics. Part A|August 12, 2003
Cardiovascular abnormalities associated with the Stuve-Wiedemann syndromeAnnick Raas-Rothschild, Zivanit Ergaz-Schaltiel, Jakob Bar-Ziv, et al.
Journal of Inherited Metabolic Disease|June 16, 2010
Psychiatric and cognitive profile in Anderson-Fabry patients: a preliminary studyPerri Segal, Yoav Kohn, Yehuda Pollak, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 28, 2011
Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyondTamar Shachar, Christophe Lo Bianco, Alessandra Recchia, et al.
Pediatric Neurology|April 18, 2003
Early peripheral nervous system manifestations of infantile Krabbe diseaseIsabelle Korn-Lubetzki, Talia Dor-Wollman, Dov Soffer, et al.
Human Mutation|November 9, 2004
A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation siteStephan Tiede, Michael Cantz, Annick Raas-Rothschild, et al.
The Journal of Clinical Endocrinology and Metabolism|July 9, 2004
A form of Jansen's metaphyseal chondrodysplasia with limited metabolic and skeletal abnormalities is caused by a novel activating parathyroid hormone (PTH)/PTH-related peptide receptor mutationMurat Bastepe, Annick Raas-Rothschild, Justin Silver, et al.
Nature Medicine|October 4, 2005
Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferaseStephan Tiede, Stephan Storch, Torben Lübke, et al.
Fetal Diagnosis and Therapy|July 2, 2003
Absent ductus venosus in the fetus: review of the literature and first report of direct umbilical venous drainage to the coronary sinusZeev Perles, Amiram Nir, Michael Nadjari, et al.
Pageof 9

Showing results (11-20 of 89) with videos related to

Sort By:
Pageof 9
Harefuah|June 22, 2016
[RARE DISEASES DTC: DIAGNOSIS, TREATMENT AND CARE]Joseph Mendlovic, Hila Barash, Hadar Yardeni, et al.
American Journal of Medical Genetics. Part A|July 9, 2011
Complex chromosomal rearrangement in a girl with psychomotor-retardation and a de novo inversion: inv(2)(p15;q24.2)Einat Granot-Hershkovitz, Annick Raas-Rothschild, Ayala Frumkin, et al.
American Journal of Medical Genetics. Part A|August 12, 2003
Cardiovascular abnormalities associated with the Stuve-Wiedemann syndromeAnnick Raas-Rothschild, Zivanit Ergaz-Schaltiel, Jakob Bar-Ziv, et al.
Journal of Inherited Metabolic Disease|June 16, 2010
Psychiatric and cognitive profile in Anderson-Fabry patients: a preliminary studyPerri Segal, Yoav Kohn, Yehuda Pollak, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 28, 2011
Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyondTamar Shachar, Christophe Lo Bianco, Alessandra Recchia, et al.
Pediatric Neurology|April 18, 2003
Early peripheral nervous system manifestations of infantile Krabbe diseaseIsabelle Korn-Lubetzki, Talia Dor-Wollman, Dov Soffer, et al.
Human Mutation|November 9, 2004
A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation siteStephan Tiede, Michael Cantz, Annick Raas-Rothschild, et al.
The Journal of Clinical Endocrinology and Metabolism|July 9, 2004
A form of Jansen's metaphyseal chondrodysplasia with limited metabolic and skeletal abnormalities is caused by a novel activating parathyroid hormone (PTH)/PTH-related peptide receptor mutationMurat Bastepe, Annick Raas-Rothschild, Justin Silver, et al.
Nature Medicine|October 4, 2005
Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferaseStephan Tiede, Stephan Storch, Torben Lübke, et al.
Fetal Diagnosis and Therapy|July 2, 2003
Absent ductus venosus in the fetus: review of the literature and first report of direct umbilical venous drainage to the coronary sinusZeev Perles, Amiram Nir, Michael Nadjari, et al.
Pageof 9