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Annick Raas-Rothschild

Showing results (41-50 of 89) with videos related to

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Molecular Genetics and Metabolism|April 25, 2006
When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patientsRuth Bargal, Marsha Zeigler, Bassam Abu-Libdeh, et al.
Journal of the American Academy of Dermatology|April 16, 2008
The H syndrome: a genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestationsVered Molho-Pessach, Ziad Agha, Suhail Aamar, et al.
American Journal of Human Genetics|December 27, 2008
Mutations in DDR2 gene cause SMED with short limbs and abnormal calcificationsRuth Bargal, Valerie Cormier-Daire, Ziva Ben-Neriah, et al.
American Journal of Medical Genetics. Part A|February 12, 2009
The clinical spectrum of fetal Niemann-Pick type CRonen Spiegel, Annick Raas-Rothschild, Orit Reish, et al.
Pediatric Blood & Cancer|November 17, 2023
Bleeding phenotype and hemostatic evaluation by thrombin generation in children with Noonan syndrome: A prospective studyAssaf A Barg, Yonatan Yeshayahu, Einat Avishai, et al.
Harefuah|April 25, 2018
[FMR1 PREMUTATION CARRIERS - ARE THEY REALLY ASYMPTOMATIC?]Shai Elizur, Michal Berkenstadt, Liat Ries-Levavi, et al.
American Journal of Medical Genetics. Part A|March 8, 2020
A founder truncating variant in GDF1 causes autosomal-recessive right isomerism and associated congenital heart defects in multiplex Arab kindredsDina Marek-Yagel, Yoav Bolkier, Ortal Barel, et al.
American Journal of Human Genetics|December 14, 2004
Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsyFlorence Molinari, Annick Raas-Rothschild, Marlene Rio, et al.
American Journal of Human Genetics|March 2, 2002
A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parentsAnnick Raas-Rothschild, Ronald J A Wanders, Petra A W Mooijer, et al.
Orphanet Journal of Rare Diseases|September 9, 2021
The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in IsraelEyal Kristal, Ben Pode-Shakked, Guy Hazan, et al.
Pageof 9

Showing results (41-50 of 89) with videos related to

Sort By:
Pageof 9
Molecular Genetics and Metabolism|April 25, 2006
When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patientsRuth Bargal, Marsha Zeigler, Bassam Abu-Libdeh, et al.
Journal of the American Academy of Dermatology|April 16, 2008
The H syndrome: a genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestationsVered Molho-Pessach, Ziad Agha, Suhail Aamar, et al.
American Journal of Human Genetics|December 27, 2008
Mutations in DDR2 gene cause SMED with short limbs and abnormal calcificationsRuth Bargal, Valerie Cormier-Daire, Ziva Ben-Neriah, et al.
American Journal of Medical Genetics. Part A|February 12, 2009
The clinical spectrum of fetal Niemann-Pick type CRonen Spiegel, Annick Raas-Rothschild, Orit Reish, et al.
Pediatric Blood & Cancer|November 17, 2023
Bleeding phenotype and hemostatic evaluation by thrombin generation in children with Noonan syndrome: A prospective studyAssaf A Barg, Yonatan Yeshayahu, Einat Avishai, et al.
Harefuah|April 25, 2018
[FMR1 PREMUTATION CARRIERS - ARE THEY REALLY ASYMPTOMATIC?]Shai Elizur, Michal Berkenstadt, Liat Ries-Levavi, et al.
American Journal of Medical Genetics. Part A|March 8, 2020
A founder truncating variant in GDF1 causes autosomal-recessive right isomerism and associated congenital heart defects in multiplex Arab kindredsDina Marek-Yagel, Yoav Bolkier, Ortal Barel, et al.
American Journal of Human Genetics|December 14, 2004
Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsyFlorence Molinari, Annick Raas-Rothschild, Marlene Rio, et al.
American Journal of Human Genetics|March 2, 2002
A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parentsAnnick Raas-Rothschild, Ronald J A Wanders, Petra A W Mooijer, et al.
Orphanet Journal of Rare Diseases|September 9, 2021
The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in IsraelEyal Kristal, Ben Pode-Shakked, Guy Hazan, et al.
Pageof 9