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Martin Zenker

Showing results (231-240 of 338) with videos related to

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Human Mutation|June 14, 2014
Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndromeDenny Schanze, Dorothée Neubauer, Valerie Cormier-Daire, et al.
Human Mutation|May 9, 2015
Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL MutationsSimone Martinelli, Emilia Stellacci, Luca Pannone, et al.
Nature Genetics|February 14, 2006
Germline KRAS mutations cause Noonan syndromeSuzanne Schubbert, Martin Zenker, Sara L Rowe, et al.
Journal of Medical Genetics|August 7, 2014
Juvenile myelomonocytic leukaemia and Noonan syndromeMarion Strullu, Aurélie Caye, Julie Lachenaud, et al.
Scientific Reports|September 24, 2017
Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short statureNadine N Hauer, Heinrich Sticht, Sangamitra Boppudi, et al.
Human Molecular Genetics|September 16, 2004
Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalitiesMartin Zenker, Thomas Aigner, Olaf Wendler, et al.
Genes, Chromosomes & Cancer|May 19, 2019
Predisposing germline mutations in high hyperdiploid acute lymphoblastic leukemia in childrenAdam J de Smith, Geneviève Lavoie, Kyle M Walsh, et al.
British Journal of Cancer|May 27, 2020
Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort studySümeyye Cöktü, Claudia Spix, Melanie Kaiser, et al.
American Journal of Medical Genetics. Part A|July 3, 2024
Nerve enlargement in patients with Noonan syndrome: A retrospective cohort studyFieke Draaisma, Erika K S M Leenders, Corrie E Erasmus, et al.
Molecular Syndromology|July 11, 2017
Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's ViewBeatrice De Maria, Tresia de Jager, Caitlin Sarubbi, et al.
Pageof 34

Showing results (231-240 of 338) with videos related to

Sort By:
Pageof 34
Human Mutation|June 14, 2014
Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndromeDenny Schanze, Dorothée Neubauer, Valerie Cormier-Daire, et al.
Human Mutation|May 9, 2015
Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL MutationsSimone Martinelli, Emilia Stellacci, Luca Pannone, et al.
Nature Genetics|February 14, 2006
Germline KRAS mutations cause Noonan syndromeSuzanne Schubbert, Martin Zenker, Sara L Rowe, et al.
Journal of Medical Genetics|August 7, 2014
Juvenile myelomonocytic leukaemia and Noonan syndromeMarion Strullu, Aurélie Caye, Julie Lachenaud, et al.
Scientific Reports|September 24, 2017
Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short statureNadine N Hauer, Heinrich Sticht, Sangamitra Boppudi, et al.
Human Molecular Genetics|September 16, 2004
Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalitiesMartin Zenker, Thomas Aigner, Olaf Wendler, et al.
Genes, Chromosomes & Cancer|May 19, 2019
Predisposing germline mutations in high hyperdiploid acute lymphoblastic leukemia in childrenAdam J de Smith, Geneviève Lavoie, Kyle M Walsh, et al.
British Journal of Cancer|May 27, 2020
Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort studySümeyye Cöktü, Claudia Spix, Melanie Kaiser, et al.
American Journal of Medical Genetics. Part A|July 3, 2024
Nerve enlargement in patients with Noonan syndrome: A retrospective cohort studyFieke Draaisma, Erika K S M Leenders, Corrie E Erasmus, et al.
Molecular Syndromology|July 11, 2017
Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's ViewBeatrice De Maria, Tresia de Jager, Caitlin Sarubbi, et al.
Pageof 34