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Malte Spielmann

Showing results (41-50 of 135) with videos related to

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Die Ophthalmologie|March 21, 2025
[Retinopathy of prematurity in a pair of premature twins-A discordant case]Stefanie Gniesmer, Viktorija Belousova, Roya Piria, et al.
American Journal of Medical Genetics. Part A|November 20, 2015
A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformationDaniel M Ibrahim, Naeimeh Tayebi, Alexej Knaus, et al.
The Journal of Gene Medicine|September 4, 2008
Insulin-like growth factor-1 gene therapy and cell transplantation in diabetic woundsTobias Hirsch, Malte Spielmann, Patrik Velander, et al.
European Journal of Human Genetics : EJHG|January 7, 2016
Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomeliaRicarda Flöttmann, Anna Sowinska-Seidler, Julie Lavie, et al.
Frontiers in Oncology|June 13, 2022
Case Report: <i>GNAQ</i>- and <i>SF3B1</i> Mutations in an Aggressive Case of Relapsing Uveal Ring MelanomaMichelle Prasuhn, Josephine Christin Freitag, Sabine Lüken, et al.
American Journal of Medical Genetics. Part A|February 26, 2019
Disruption of the PTHLH regulatory landscape results in features consistent with hyperparathyroid diseaseAshish R Deshwar, Malte Spielmann, Lisa Vi, et al.
Clinical Genetics|January 18, 2025
Haplotype Phasing of Biallelic WNT10B Variants Using Long-Read Sequencing in Split-Hand/Foot Malformation SyndromeJelena Pozojevic, Naseebullah Kakar, Henrike L Sczakiel, et al.
Development (Cambridge, England)|January 30, 2023
Single-cell RNA-based phenotyping reveals a pivotal role of thyroid hormone receptor alpha for hypothalamic developmentVarun K A Sreenivasan, Riccardo Dore, Julia Resch, et al.
American Journal of Medical Genetics. Part A|January 30, 2016
Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangementMalte Spielmann, Sylvie Marx, Gotthold Barbi, et al.
Journal of Neurology|August 2, 2024
Repeat length in spinocerebellar ataxia type 4 (SCA4) predicts age at onset and disease severityAndreas Dalski, Martje G Pauly, Henrike Hanssen, et al.
Pageof 14

Showing results (41-50 of 135) with videos related to

Sort By:
Pageof 14
Die Ophthalmologie|March 21, 2025
[Retinopathy of prematurity in a pair of premature twins-A discordant case]Stefanie Gniesmer, Viktorija Belousova, Roya Piria, et al.
American Journal of Medical Genetics. Part A|November 20, 2015
A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformationDaniel M Ibrahim, Naeimeh Tayebi, Alexej Knaus, et al.
The Journal of Gene Medicine|September 4, 2008
Insulin-like growth factor-1 gene therapy and cell transplantation in diabetic woundsTobias Hirsch, Malte Spielmann, Patrik Velander, et al.
European Journal of Human Genetics : EJHG|January 7, 2016
Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomeliaRicarda Flöttmann, Anna Sowinska-Seidler, Julie Lavie, et al.
Frontiers in Oncology|June 13, 2022
Case Report: <i>GNAQ</i>- and <i>SF3B1</i> Mutations in an Aggressive Case of Relapsing Uveal Ring MelanomaMichelle Prasuhn, Josephine Christin Freitag, Sabine Lüken, et al.
American Journal of Medical Genetics. Part A|February 26, 2019
Disruption of the PTHLH regulatory landscape results in features consistent with hyperparathyroid diseaseAshish R Deshwar, Malte Spielmann, Lisa Vi, et al.
Clinical Genetics|January 18, 2025
Haplotype Phasing of Biallelic WNT10B Variants Using Long-Read Sequencing in Split-Hand/Foot Malformation SyndromeJelena Pozojevic, Naseebullah Kakar, Henrike L Sczakiel, et al.
Development (Cambridge, England)|January 30, 2023
Single-cell RNA-based phenotyping reveals a pivotal role of thyroid hormone receptor alpha for hypothalamic developmentVarun K A Sreenivasan, Riccardo Dore, Julia Resch, et al.
American Journal of Medical Genetics. Part A|January 30, 2016
Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangementMalte Spielmann, Sylvie Marx, Gotthold Barbi, et al.
Journal of Neurology|August 2, 2024
Repeat length in spinocerebellar ataxia type 4 (SCA4) predicts age at onset and disease severityAndreas Dalski, Martje G Pauly, Henrike Hanssen, et al.
Pageof 14