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Martin Zenker

Showing results (141-150 of 338) with videos related to

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Pediatrics|March 21, 2007
Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2)Bernward G Hinkes, Bettina Mucha, Christopher N Vlangos, et al.
Haematologica|November 21, 2007
Mutation analysis of the BRAF oncogene in juvenile myelomonocytic leukemiaAndrica C H de Vries, Ronald W Stam, Christian P Kratz, et al.
Cell Death and Differentiation|June 24, 2017
CTLA-4-mediated posttranslational modifications direct cytotoxic T-lymphocyte differentiationHolger Lingel, Josef Wissing, Aditya Arra, et al.
Bone|October 21, 2017
Skeletal impairment in Pierson syndrome: Is there a role for lamininβ2 in bone physiology?Camille Beaufils, Delphine Farlay, Irma Machuca-Gayet, et al.
Clinical Dysmorphology|October 10, 2020
Heterozygous intragenic deletions of FREM1 are not associated with trigonocephalyAngelika J Dawson, Karine Hovanes, Jing Liu, et al.
Human Molecular Genetics|July 13, 2021
Functional assessment of two variants of unknown significance in TEK by endothelium-specific expression in zebrafish embryosLorenz M Bell, Annegret Holm, Uta Matysiak, et al.
Frontiers in Endocrinology|May 23, 2022
A Case Report: First Long-Term Treatment With Burosumab in a Patient With Cutaneous-Skeletal Hypophosphatemia SyndromeLea Maria Merz, Florian Buerger, Niels Ziegelasch, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 7, 2022
Neurologic and neurodevelopmental complications in cardiofaciocutaneous syndrome are associated with genotype: A multinational cohort studyElizabeth I Pierpont, Daniel L Kenney-Jung, Ryan Shanley, et al.
American Journal of Medical Genetics. Part A|January 31, 2020
Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 geneAlina T Midro, Beata Stasiewicz-Jarocka, Jan Borys, et al.
American Journal of Medical Genetics. Part A|December 14, 2006
A male infant with a 9.6 Mb terminal Xp deletion including the OA1 locus: Limit of viability of Xp deletions in malesVolker O Melichar, Sabine Guth, Heide Hellebrand, et al.
Pageof 34

Showing results (141-150 of 338) with videos related to

Sort By:
Pageof 34
Pediatrics|March 21, 2007
Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2)Bernward G Hinkes, Bettina Mucha, Christopher N Vlangos, et al.
Haematologica|November 21, 2007
Mutation analysis of the BRAF oncogene in juvenile myelomonocytic leukemiaAndrica C H de Vries, Ronald W Stam, Christian P Kratz, et al.
Cell Death and Differentiation|June 24, 2017
CTLA-4-mediated posttranslational modifications direct cytotoxic T-lymphocyte differentiationHolger Lingel, Josef Wissing, Aditya Arra, et al.
Bone|October 21, 2017
Skeletal impairment in Pierson syndrome: Is there a role for lamininβ2 in bone physiology?Camille Beaufils, Delphine Farlay, Irma Machuca-Gayet, et al.
Clinical Dysmorphology|October 10, 2020
Heterozygous intragenic deletions of FREM1 are not associated with trigonocephalyAngelika J Dawson, Karine Hovanes, Jing Liu, et al.
Human Molecular Genetics|July 13, 2021
Functional assessment of two variants of unknown significance in TEK by endothelium-specific expression in zebrafish embryosLorenz M Bell, Annegret Holm, Uta Matysiak, et al.
Frontiers in Endocrinology|May 23, 2022
A Case Report: First Long-Term Treatment With Burosumab in a Patient With Cutaneous-Skeletal Hypophosphatemia SyndromeLea Maria Merz, Florian Buerger, Niels Ziegelasch, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 7, 2022
Neurologic and neurodevelopmental complications in cardiofaciocutaneous syndrome are associated with genotype: A multinational cohort studyElizabeth I Pierpont, Daniel L Kenney-Jung, Ryan Shanley, et al.
American Journal of Medical Genetics. Part A|January 31, 2020
Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 geneAlina T Midro, Beata Stasiewicz-Jarocka, Jan Borys, et al.
American Journal of Medical Genetics. Part A|December 14, 2006
A male infant with a 9.6 Mb terminal Xp deletion including the OA1 locus: Limit of viability of Xp deletions in malesVolker O Melichar, Sabine Guth, Heide Hellebrand, et al.
Pageof 34