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Peter Nürnberg

Showing results (191-200 of 517) with videos related to

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American Journal of Medical Genetics. Part A|January 11, 2021
Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal studyAndrea Gangfuß, Gökhan Yigit, Janine Altmüller, et al.
European Journal of Human Genetics : EJHG|January 12, 2012
A large duplication involving the IHH locus mimics acrocallosal syndromeMemnune Yuksel-Apak, Nina Bögershausen, Barbara Pawlik, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|January 12, 2016
Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegiaShakeela Daud, Naseebullah Kakar, Ingrid Goebel, et al.
International Journal of Molecular Sciences|March 6, 2021
hiPSC-Derived Epidermal Keratinocytes from Ichthyosis Patients Show Altered Expression of Cornification MarkersDulce Lima Cunha, Amanda Oram, Robert Gruber, et al.
Human Molecular Genetics|August 15, 2006
Evidence for involvement of the vitamin D receptor gene in idiopathic short stature via a genome-wide linkage study and subsequent association studiesAstrid Dempfle, Stefan A Wudy, Kathrin Saar, et al.
Plos One|October 15, 2013
A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotypeJan Hauke, Andrea Schild, Antje Neugebauer, et al.
Frontiers in Genetics|July 29, 2021
Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and VKatja M Eckl, Robert Gruber, Louise Brennan, et al.
Human Genetics|May 1, 2014
Homozygous truncating PTPRF mutation causes atheliaGuntram Borck, Liat de Vries, Hsin-Jung Wu, et al.
Brain Communications|May 12, 2021
A novel remitting leukodystrophy associated with a variant in <i>FBP2</i>Agnieszka Gizak, Susann Diegmann, Steffi Dreha-Kulaczewski, et al.
Nature Genetics|July 20, 2004
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophyAndreas R Janecke, Debra A Thompson, Gerd Utermann, et al.
Pageof 52

Showing results (191-200 of 517) with videos related to

Sort By:
Pageof 52
American Journal of Medical Genetics. Part A|January 11, 2021
Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal studyAndrea Gangfuß, Gökhan Yigit, Janine Altmüller, et al.
European Journal of Human Genetics : EJHG|January 12, 2012
A large duplication involving the IHH locus mimics acrocallosal syndromeMemnune Yuksel-Apak, Nina Bögershausen, Barbara Pawlik, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|January 12, 2016
Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegiaShakeela Daud, Naseebullah Kakar, Ingrid Goebel, et al.
International Journal of Molecular Sciences|March 6, 2021
hiPSC-Derived Epidermal Keratinocytes from Ichthyosis Patients Show Altered Expression of Cornification MarkersDulce Lima Cunha, Amanda Oram, Robert Gruber, et al.
Human Molecular Genetics|August 15, 2006
Evidence for involvement of the vitamin D receptor gene in idiopathic short stature via a genome-wide linkage study and subsequent association studiesAstrid Dempfle, Stefan A Wudy, Kathrin Saar, et al.
Plos One|October 15, 2013
A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotypeJan Hauke, Andrea Schild, Antje Neugebauer, et al.
Frontiers in Genetics|July 29, 2021
Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and VKatja M Eckl, Robert Gruber, Louise Brennan, et al.
Human Genetics|May 1, 2014
Homozygous truncating PTPRF mutation causes atheliaGuntram Borck, Liat de Vries, Hsin-Jung Wu, et al.
Brain Communications|May 12, 2021
A novel remitting leukodystrophy associated with a variant in <i>FBP2</i>Agnieszka Gizak, Susann Diegmann, Steffi Dreha-Kulaczewski, et al.
Nature Genetics|July 20, 2004
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophyAndreas R Janecke, Debra A Thompson, Gerd Utermann, et al.
Pageof 52