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R Lohmann

Showing results (161-170 of 170) with videos related to

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Communications Biology|July 30, 2024
A MYCN-driven de-differentiation profile identifies a subgroup of aggressive retinoblastomaTatsiana Ryl, Elena Afanasyeva, Till Hartmann, et al.
American Journal of Human Genetics|April 28, 2015
Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A DysfunctionK Nicole Weaver, Kristin E Noack Watt, Robert B Hufnagel, et al.
Communications Biology|September 11, 2024
Author Correction: A MYCN-driven de-differentiation profile identifies a subgroup of aggressive retinoblastomaTatsiana Ryl, Elena Afanasyeva, Till Hartmann, et al.
European Journal of Human Genetics : EJHG|September 2, 2004
Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variationOzge Altug Teber, Gabriele Gillessen-Kaesbach, Sven Fischer, et al.
Nature Genetics|December 7, 2010
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndromeJohannes G Dauwerse, Jill Dixon, Saskia Seland, et al.
American Journal of Human Genetics|February 7, 2012
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephalyMatthew A Lines, Lijia Huang, Jeremy Schwartzentruber, et al.
Brain : a Journal of Neurology|June 30, 2022
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disordersNataliya Di Donato, Renzo Guerrini, Charles J Billington, et al.
Cancers|April 30, 2021
Eye Tumors in Childhood as First Sign of Tumor Predisposition Syndromes: Insights from an Observational Study Conducted in Germany and AustriaMadlen Reschke, Eva Biewald, Leo Bronstein, et al.
American Journal of Human Genetics|December 1, 2014
Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndromeDagmar Wieczorek, William G Newman, Thomas Wieland, et al.
American Journal of Medical Genetics. Part A|February 8, 2017
Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and HematologyTim Ripperger, Stefan S Bielack, Arndt Borkhardt, et al.
Pageof 17

Showing results (161-170 of 170) with videos related to

Sort By:
Pageof 17
You have reached the last page of results.This site can display upto 170 results.
Communications Biology|July 30, 2024
A MYCN-driven de-differentiation profile identifies a subgroup of aggressive retinoblastomaTatsiana Ryl, Elena Afanasyeva, Till Hartmann, et al.
American Journal of Human Genetics|April 28, 2015
Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A DysfunctionK Nicole Weaver, Kristin E Noack Watt, Robert B Hufnagel, et al.
Communications Biology|September 11, 2024
Author Correction: A MYCN-driven de-differentiation profile identifies a subgroup of aggressive retinoblastomaTatsiana Ryl, Elena Afanasyeva, Till Hartmann, et al.
European Journal of Human Genetics : EJHG|September 2, 2004
Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variationOzge Altug Teber, Gabriele Gillessen-Kaesbach, Sven Fischer, et al.
Nature Genetics|December 7, 2010
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndromeJohannes G Dauwerse, Jill Dixon, Saskia Seland, et al.
American Journal of Human Genetics|February 7, 2012
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephalyMatthew A Lines, Lijia Huang, Jeremy Schwartzentruber, et al.
Brain : a Journal of Neurology|June 30, 2022
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disordersNataliya Di Donato, Renzo Guerrini, Charles J Billington, et al.
Cancers|April 30, 2021
Eye Tumors in Childhood as First Sign of Tumor Predisposition Syndromes: Insights from an Observational Study Conducted in Germany and AustriaMadlen Reschke, Eva Biewald, Leo Bronstein, et al.
American Journal of Human Genetics|December 1, 2014
Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndromeDagmar Wieczorek, William G Newman, Thomas Wieland, et al.
American Journal of Medical Genetics. Part A|February 8, 2017
Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and HematologyTim Ripperger, Stefan S Bielack, Arndt Borkhardt, et al.
Pageof 17