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Olaf Bodamer

Showing results (51-60 of 74) with videos related to

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Molecular Genetics and Metabolism|February 9, 2020
Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C diseaseRohini Sidhu, Pamela Kell, Dennis J Dietzen, et al.
Journal of Medical Genetics|March 22, 2015
Rare variants in SOS2 and LZTR1 are associated with Noonan syndromeGuilherme Lopes Yamamoto, Meire Aguena, Monika Gos, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 7, 2026
Evaluation of Electrical Impedance Myography as a Noninvasive Musculoskeletal Biomarker in Infantile- and Late-Onset Pompe DiseaseRaquel van Gool, Nehal Shah, Amanda Cao, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 2, 2020
Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT)Chen-Han Wilfred Wu, Nina Mann, Makiko Nakayama, et al.
Epilepsia|January 26, 2019
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding regionMcKenna Kelly, Meredith Park, Ivana Mihalek, et al.
HGG Advances|April 12, 2025
Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardationBobbi McGivern, Tess Holling, Maria J Guillen Sacoto, et al.
American Journal of Medical Genetics. Part A|December 31, 2013
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutationsAdeline Vanderver, Davide Tonduti, Ilana Kahn, et al.
Frontiers in Genetics|August 8, 2022
Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One)Amy Brower, Kee Chan, Marc Williams, et al.
Orphanet Journal of Rare Diseases|November 9, 2011
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare diseaseMaurizio Scarpa, Zsuzsanna Almássy, Michael Beck, et al.
American Journal of Human Genetics|May 31, 2025
Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalitiesClaudie Gabillard-Lefort, Caroline Silveira Martinez, Naïg Gueguen, et al.
Pageof 8

Showing results (51-60 of 74) with videos related to

Sort By:
Pageof 8
Molecular Genetics and Metabolism|February 9, 2020
Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C diseaseRohini Sidhu, Pamela Kell, Dennis J Dietzen, et al.
Journal of Medical Genetics|March 22, 2015
Rare variants in SOS2 and LZTR1 are associated with Noonan syndromeGuilherme Lopes Yamamoto, Meire Aguena, Monika Gos, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 7, 2026
Evaluation of Electrical Impedance Myography as a Noninvasive Musculoskeletal Biomarker in Infantile- and Late-Onset Pompe DiseaseRaquel van Gool, Nehal Shah, Amanda Cao, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 2, 2020
Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT)Chen-Han Wilfred Wu, Nina Mann, Makiko Nakayama, et al.
Epilepsia|January 26, 2019
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding regionMcKenna Kelly, Meredith Park, Ivana Mihalek, et al.
HGG Advances|April 12, 2025
Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardationBobbi McGivern, Tess Holling, Maria J Guillen Sacoto, et al.
American Journal of Medical Genetics. Part A|December 31, 2013
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutationsAdeline Vanderver, Davide Tonduti, Ilana Kahn, et al.
Frontiers in Genetics|August 8, 2022
Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One)Amy Brower, Kee Chan, Marc Williams, et al.
Orphanet Journal of Rare Diseases|November 9, 2011
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare diseaseMaurizio Scarpa, Zsuzsanna Almássy, Michael Beck, et al.
American Journal of Human Genetics|May 31, 2025
Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalitiesClaudie Gabillard-Lefort, Caroline Silveira Martinez, Naïg Gueguen, et al.
Pageof 8