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Annick Raas-Rothschild

Showing results (31-40 of 89) with videos related to

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Diagnostics (Basel, Switzerland)|July 18, 2020
Correction: Barak, S. <i>et al.</i> "Long-Term Outcomes of Early Enzyme Replacement Therapy for Mucopolysaccharidosis IV: Clinical Case Studies of Two Siblings". <i>Diagnostics</i> 2020, <i>10</i>, 108Sharon Barak, Yair Anikster, Ifat Sarouk, et al.
Diagnostics (Basel, Switzerland)|February 22, 2020
Long-Term Outcomes of Early Enzyme Replacement Therapy for Mucopolysaccharidosis IV: Clinical Case Studies of Two SiblingsSharon Barak, Yair Anikster, Ifat Sarouk, et al.
Journal of the American Academy of Dermatology|April 11, 2007
Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutationVered Molho-Pessach, Ruth Bargal, Yigal Abramowitz, et al.
Pediatric Radiology|August 6, 2011
Spondyloepimetaphyseal dysplasia, short limb-abnormal calcifications type: progressive radiological findings from fetal age to adolescenceKatya Rozovsky, Jacob Sosna, Martine Le Merrer, et al.
Investigative Ophthalmology & Visual Science|March 1, 2018
The Genetics of Usher Syndrome in the Israeli and Palestinian PopulationsAyat Khalaileh, Alaa Abu-Diab, Tamar Ben-Yosef, et al.
European Journal of Medical Genetics|July 15, 2018
Diaphanospondylodysostosis: Refining the prenatal diagnosis of a rare skeletal disorderLior Greenbaum, Yinon Gilboa, Annick Raas-Rothschild, et al.
Molecular Genetics & Genomic Medicine|April 26, 2019
BRPF1-associated intellectual disability, ptosis, and facial dysmorphism in a multiplex familyNaomi Pode-Shakked, Ortal Barel, Ben Pode-Shakked, et al.
Molecular Syndromology|February 28, 2022
What Can We Learn from the Parents of Children Affected with Mucopolysaccharidosis Type III-A in Israel?Shiri Liber, Orna Staretz-Chacham, Mor Kishon, et al.
Molecular Genetics and Metabolism|October 25, 2011
Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencingItai Berger, Ziva Ben-Neriah, Talia Dor-Wolman, et al.
Immunologic Research|May 25, 2016
Combined immunodeficiency in a patient with mosaic monosomy 21Erez Rechavi, Sarina Levy-Mendelovich, Tali Stauber, et al.
Pageof 9

Showing results (31-40 of 89) with videos related to

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Pageof 9
Diagnostics (Basel, Switzerland)|July 18, 2020
Correction: Barak, S. <i>et al.</i> "Long-Term Outcomes of Early Enzyme Replacement Therapy for Mucopolysaccharidosis IV: Clinical Case Studies of Two Siblings". <i>Diagnostics</i> 2020, <i>10</i>, 108Sharon Barak, Yair Anikster, Ifat Sarouk, et al.
Diagnostics (Basel, Switzerland)|February 22, 2020
Long-Term Outcomes of Early Enzyme Replacement Therapy for Mucopolysaccharidosis IV: Clinical Case Studies of Two SiblingsSharon Barak, Yair Anikster, Ifat Sarouk, et al.
Journal of the American Academy of Dermatology|April 11, 2007
Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutationVered Molho-Pessach, Ruth Bargal, Yigal Abramowitz, et al.
Pediatric Radiology|August 6, 2011
Spondyloepimetaphyseal dysplasia, short limb-abnormal calcifications type: progressive radiological findings from fetal age to adolescenceKatya Rozovsky, Jacob Sosna, Martine Le Merrer, et al.
Investigative Ophthalmology & Visual Science|March 1, 2018
The Genetics of Usher Syndrome in the Israeli and Palestinian PopulationsAyat Khalaileh, Alaa Abu-Diab, Tamar Ben-Yosef, et al.
European Journal of Medical Genetics|July 15, 2018
Diaphanospondylodysostosis: Refining the prenatal diagnosis of a rare skeletal disorderLior Greenbaum, Yinon Gilboa, Annick Raas-Rothschild, et al.
Molecular Genetics & Genomic Medicine|April 26, 2019
BRPF1-associated intellectual disability, ptosis, and facial dysmorphism in a multiplex familyNaomi Pode-Shakked, Ortal Barel, Ben Pode-Shakked, et al.
Molecular Syndromology|February 28, 2022
What Can We Learn from the Parents of Children Affected with Mucopolysaccharidosis Type III-A in Israel?Shiri Liber, Orna Staretz-Chacham, Mor Kishon, et al.
Molecular Genetics and Metabolism|October 25, 2011
Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencingItai Berger, Ziva Ben-Neriah, Talia Dor-Wolman, et al.
Immunologic Research|May 25, 2016
Combined immunodeficiency in a patient with mosaic monosomy 21Erez Rechavi, Sarina Levy-Mendelovich, Tali Stauber, et al.
Pageof 9