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European Journal of Medical Genetics
|
April 11, 2017
Elucidating the behavioral phenotype of patients affected with mucolipidosis IV: What can we learn from the parents?
Perri Segal, Ben Pode-Shakked, Annick Raas-Rothschild
Journal of Molecular Neuroscience : MN
|
January 30, 2020
Ethical Dilemmas Linked to Fragile X Testing of Minors-a Preliminary Survey Among Professionals
Lidia V Gabis, Shahar Shefer, Annick Raas-Rothschild
The Journal of Sexual Medicine
|
January 28, 2010
Fabry disease and G6PD in three family members with priapism: is the nitric oxide pathway to blame?
Rebecca Backenroth, Ezekiel H Landau, Miri Goren, et al.
Molecular Genetics and Metabolism
|
August 15, 2002
Hypocarnitinemia in lysinuric protein intolerance
Stanley H Korman, Annick Raas-Rothschild, Orly Elpeleg, et al.
Glycoconjugate Journal
|
October 30, 2004
Glycosphingolipidoses: beyond the enzymatic defect
Annick Raas-Rothschild, Irene Pankova-Kholmyansky, Yaacov Kacher, et al.
American Journal of Medical Genetics
|
October 31, 2002
Genetic testing for hearing loss: different motivations for the same outcome
Orit Dagan, Hagit Hochner, Haya Levi, et al.
American Journal of Medical Genetics
|
November 20, 2002
Family with inflammatory demyelinating polyneuropathy and the HNPP 17p12 deletion
Isabelle Korn-Lubetzki, Zohar Argov, Annick Raas-Rothschild, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 17, 2015
The time-consuming demands of the practice of medical genetics in the era of advanced genomic testing
Rivka Sukenik-Halevy, Mark David Ludman, Shay Ben-Shachar, et al.
European Journal of Medical Genetics
|
April 29, 2008
P35S mutation in the NOG gene associated with Teunissen-Cremers syndrome and features of multiple NOG joint-fusion syndromes
Nir Hirshoren, Menachem Gross, Eyal Banin, et al.
Journal of the American Society of Nephrology : JASN
|
January 24, 2002
Mutations in NPHS2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children
Yaacov Frishberg, Choni Rinat, Orli Megged, et al.
Page
of 9
Search research articles
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Showing results (1-10 of 89) with videos related to
Sort By:
Page
of 9
European Journal of Medical Genetics
|
April 11, 2017
Elucidating the behavioral phenotype of patients affected with mucolipidosis IV: What can we learn from the parents?
Perri Segal, Ben Pode-Shakked, Annick Raas-Rothschild
Journal of Molecular Neuroscience : MN
|
January 30, 2020
Ethical Dilemmas Linked to Fragile X Testing of Minors-a Preliminary Survey Among Professionals
Lidia V Gabis, Shahar Shefer, Annick Raas-Rothschild
The Journal of Sexual Medicine
|
January 28, 2010
Fabry disease and G6PD in three family members with priapism: is the nitric oxide pathway to blame?
Rebecca Backenroth, Ezekiel H Landau, Miri Goren, et al.
Molecular Genetics and Metabolism
|
August 15, 2002
Hypocarnitinemia in lysinuric protein intolerance
Stanley H Korman, Annick Raas-Rothschild, Orly Elpeleg, et al.
Glycoconjugate Journal
|
October 30, 2004
Glycosphingolipidoses: beyond the enzymatic defect
Annick Raas-Rothschild, Irene Pankova-Kholmyansky, Yaacov Kacher, et al.
American Journal of Medical Genetics
|
October 31, 2002
Genetic testing for hearing loss: different motivations for the same outcome
Orit Dagan, Hagit Hochner, Haya Levi, et al.
American Journal of Medical Genetics
|
November 20, 2002
Family with inflammatory demyelinating polyneuropathy and the HNPP 17p12 deletion
Isabelle Korn-Lubetzki, Zohar Argov, Annick Raas-Rothschild, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 17, 2015
The time-consuming demands of the practice of medical genetics in the era of advanced genomic testing
Rivka Sukenik-Halevy, Mark David Ludman, Shay Ben-Shachar, et al.
European Journal of Medical Genetics
|
April 29, 2008
P35S mutation in the NOG gene associated with Teunissen-Cremers syndrome and features of multiple NOG joint-fusion syndromes
Nir Hirshoren, Menachem Gross, Eyal Banin, et al.
Journal of the American Society of Nephrology : JASN
|
January 24, 2002
Mutations in NPHS2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children
Yaacov Frishberg, Choni Rinat, Orli Megged, et al.
Page
of 9