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Deborah Elstein

Showing results (131-140 of 154) with videos related to

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Blood Cells, Molecules & Diseases|August 6, 2010
Preimplantation genetic diagnosis (PGD) for a treatable disorder: Gaucher disease type 1 as a modelGheona Altarescu, Paul Renbaum, Talia Eldar-Geva, et al.
Blood|July 5, 2007
Oral maintenance clinical trial with miglustat for type I Gaucher disease: switch from or combination with intravenous enzyme replacementDeborah Elstein, Altoon Dweck, Drorit Attias, et al.
PLOS Digital Health|June 29, 2023
FindZebra online search delving into rare disease case reports using natural language processingValentin Liévin, Jonas Meinertz Hansen, Allan Lund, et al.
Molecular Biology International|January 16, 2013
Prevention of lysosomal storage diseases and derivation of mutant stem cell lines by preimplantation genetic diagnosisGheona Altarescu, Rachel Beeri, Rachel Eiges, et al.
The Journal of Obstetrics and Gynaecology Research|March 12, 2014
Outcome of pregnancies in women receiving velaglucerase alfa for Gaucher diseaseDeborah Elstein, Derralynn Hughes, Ozlem Goker-Alpan, et al.
Journal of Clinical Medicine|May 25, 2024
Long-Term Treatment of Gaucher Disease with Velaglucerase Alfa in ERT-Naïve Patients from the Gaucher Outcome Survey (GOS) RegistryPatrick Deegan, Heather Lau, Deborah Elstein, et al.
Blood Cells, Molecules & Diseases|December 7, 2007
Plasma lipids are altered in Gaucher disease: biochemical markers to evaluate therapeutic interventionPeter J Meikle, Philip D Whitfield, Tina Rozaklis, et al.
Prenatal Diagnosis|June 28, 2011
Preventing mucopolysaccharidosis type II (Hunter syndrome): PGD and establishing a Hunter (46, XX) stem cell lineGheona Altarescu, Paul Renbaum, Talia Eldar-Geva, et al.
Orphanet Journal of Rare Diseases|April 22, 2015
Effect of cyclic, low dose pyrimethamine treatment in patients with Late Onset Tay Sachs: an open label, extended pilot studyEtty Osher, Aviva Fattal-Valevski, Liora Sagie, et al.
The Journal of Clinical Investigation|October 2, 2015
Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutationsDavid A Zeevi, Gheona Altarescu, Ariella Weinberg-Shukron, et al.
Pageof 16

Showing results (131-140 of 154) with videos related to

Sort By:
Pageof 16
Blood Cells, Molecules & Diseases|August 6, 2010
Preimplantation genetic diagnosis (PGD) for a treatable disorder: Gaucher disease type 1 as a modelGheona Altarescu, Paul Renbaum, Talia Eldar-Geva, et al.
Blood|July 5, 2007
Oral maintenance clinical trial with miglustat for type I Gaucher disease: switch from or combination with intravenous enzyme replacementDeborah Elstein, Altoon Dweck, Drorit Attias, et al.
PLOS Digital Health|June 29, 2023
FindZebra online search delving into rare disease case reports using natural language processingValentin Liévin, Jonas Meinertz Hansen, Allan Lund, et al.
Molecular Biology International|January 16, 2013
Prevention of lysosomal storage diseases and derivation of mutant stem cell lines by preimplantation genetic diagnosisGheona Altarescu, Rachel Beeri, Rachel Eiges, et al.
The Journal of Obstetrics and Gynaecology Research|March 12, 2014
Outcome of pregnancies in women receiving velaglucerase alfa for Gaucher diseaseDeborah Elstein, Derralynn Hughes, Ozlem Goker-Alpan, et al.
Journal of Clinical Medicine|May 25, 2024
Long-Term Treatment of Gaucher Disease with Velaglucerase Alfa in ERT-Naïve Patients from the Gaucher Outcome Survey (GOS) RegistryPatrick Deegan, Heather Lau, Deborah Elstein, et al.
Blood Cells, Molecules & Diseases|December 7, 2007
Plasma lipids are altered in Gaucher disease: biochemical markers to evaluate therapeutic interventionPeter J Meikle, Philip D Whitfield, Tina Rozaklis, et al.
Prenatal Diagnosis|June 28, 2011
Preventing mucopolysaccharidosis type II (Hunter syndrome): PGD and establishing a Hunter (46, XX) stem cell lineGheona Altarescu, Paul Renbaum, Talia Eldar-Geva, et al.
Orphanet Journal of Rare Diseases|April 22, 2015
Effect of cyclic, low dose pyrimethamine treatment in patients with Late Onset Tay Sachs: an open label, extended pilot studyEtty Osher, Aviva Fattal-Valevski, Liora Sagie, et al.
The Journal of Clinical Investigation|October 2, 2015
Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutationsDavid A Zeevi, Gheona Altarescu, Ariella Weinberg-Shukron, et al.
Pageof 16