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Annick Raas-Rothschild

Showing results (51-60 of 89) with videos related to

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European Journal of Human Genetics : EJHG|September 8, 2016
Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin CEyal Reinstein, Ana Gutierrez-Fernandez, Shay Tzur, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|August 5, 2017
PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix MineralizationAnders J Kämpe, Alice Costantini, Yael Levy-Shraga, et al.
American Journal of Human Genetics|May 31, 2011
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short statureRami Abou Jamra, Orianne Philippe, Annick Raas-Rothschild, et al.
American Journal of Medical Genetics. Part A|August 2, 2005
Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 casesManuela Morleo, Tiziano Pramparo, Lucia Perone, et al.
European Journal of Medical Genetics|November 19, 2021
Broadening the phenotype of LRRK1 mutations - Features of malignant osteopetrosis and optic nerve atrophy with intrafamilial variable expressivityOdelia Chorin, Guy Chowers, Rawan Agbariah, et al.
American Journal of Medical Genetics. Part A|October 8, 2022
PPP2R1A neurodevelopmental disorder is associated with congenital heart defectsElizabeth K Baker, Beulah Solivio, Ben Pode-Shakked, et al.
Human Mutation|May 4, 2011
Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndromeWilly M Nillesen, Helger G Yntema, Marco Moscarda, et al.
The Journal of Biological Chemistry|June 28, 2011
Encephalopathy caused by ablation of very long acyl chain ceramide synthesis may be largely due to reduced galactosylceramide levelsOshrit Ben-David, Yael Pewzner-Jung, Ori Brenner, et al.
Frontiers in Genetics|August 21, 2019
Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive FamiliesLior Greenbaum, Ben Pode-Shakked, Shlomit Eisenberg-Barzilai, et al.
Human Mutation|February 10, 2017
Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcificationsAndreas R Janecke, Ruijuan Xu, Elisabeth Steichen-Gersdorf, et al.
Pageof 9

Showing results (51-60 of 89) with videos related to

Sort By:
Pageof 9
European Journal of Human Genetics : EJHG|September 8, 2016
Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin CEyal Reinstein, Ana Gutierrez-Fernandez, Shay Tzur, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|August 5, 2017
PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix MineralizationAnders J Kämpe, Alice Costantini, Yael Levy-Shraga, et al.
American Journal of Human Genetics|May 31, 2011
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short statureRami Abou Jamra, Orianne Philippe, Annick Raas-Rothschild, et al.
American Journal of Medical Genetics. Part A|August 2, 2005
Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 casesManuela Morleo, Tiziano Pramparo, Lucia Perone, et al.
European Journal of Medical Genetics|November 19, 2021
Broadening the phenotype of LRRK1 mutations - Features of malignant osteopetrosis and optic nerve atrophy with intrafamilial variable expressivityOdelia Chorin, Guy Chowers, Rawan Agbariah, et al.
American Journal of Medical Genetics. Part A|October 8, 2022
PPP2R1A neurodevelopmental disorder is associated with congenital heart defectsElizabeth K Baker, Beulah Solivio, Ben Pode-Shakked, et al.
Human Mutation|May 4, 2011
Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndromeWilly M Nillesen, Helger G Yntema, Marco Moscarda, et al.
The Journal of Biological Chemistry|June 28, 2011
Encephalopathy caused by ablation of very long acyl chain ceramide synthesis may be largely due to reduced galactosylceramide levelsOshrit Ben-David, Yael Pewzner-Jung, Ori Brenner, et al.
Frontiers in Genetics|August 21, 2019
Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive FamiliesLior Greenbaum, Ben Pode-Shakked, Shlomit Eisenberg-Barzilai, et al.
Human Mutation|February 10, 2017
Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcificationsAndreas R Janecke, Ruijuan Xu, Elisabeth Steichen-Gersdorf, et al.
Pageof 9