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Thomas Meitinger

Showing results (21-30 of 536) with videos related to

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Neurobiology of Aging|December 13, 2006
A novel deletion in progranulin gene is associated with FTDP-17 and CBSLuisa Benussi, Giuliano Binetti, Elena Sina, et al.
American Journal of Medical Genetics. Part A|April 25, 2013
Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2Nabeel J M Salem, Maja Hempel, Katrin-Janine Heiliger, et al.
Neuropediatrics|September 11, 2018
A De Novo Missense Variant in POU3F2 Identified in a Child with Global Developmental DelayDominik Sebastian Westphal, Korbinian Maria Riedhammer, Reka Kovacs-Nagy, et al.
Genome Biology|August 8, 2009
Whole genome sequencing of a single Bos taurus animal for single nucleotide polymorphism discoverySebastian H Eck, Anna Benet-Pagès, Krzysztof Flisikowski, et al.
American Journal of Ophthalmology|April 30, 2003
Spondylo-ocular syndrome: a new entity with crystalline lens malformation, cataract, retinal detachment, osteoporosis, and platyspondylyGunther Rudolph, Petros Kalpadakis, Thomas Bettecken, et al.
Plos One|March 4, 2014
Impairment of Drosophila orthologs of the human orphan protein C19orf12 induces bang sensitivity and neurodegenerationArcangela Iuso, Ody C M Sibon, Matteo Gorza, et al.
Biopreservation and Biobanking|May 20, 2014
The role of biobanking in rare diseases: European consensus expert group reportHanns Lochmüller, Ségolène Aymé, Francesca Pampinella, et al.
Clinical Genetics|January 26, 2006
Familial carpal tunnel syndrome: further evidence for a genetic contributionMatthias Elstner, Thomas Bettecken, Maria Wasner, et al.
Neurology. Genetics|November 2, 2020
Biotinidase deficiency: A treatable cause of hereditary spastic paraparesisFlorentine Radelfahr, Korbinian M Riedhammer, Leonie F Keidel, et al.
European Journal of Medical Genetics|January 8, 2011
3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndromeKonrad Oexle, Maja Hempel, Anna Jauch, et al.
Pageof 54

Showing results (21-30 of 536) with videos related to

Sort By:
Pageof 54
Neurobiology of Aging|December 13, 2006
A novel deletion in progranulin gene is associated with FTDP-17 and CBSLuisa Benussi, Giuliano Binetti, Elena Sina, et al.
American Journal of Medical Genetics. Part A|April 25, 2013
Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2Nabeel J M Salem, Maja Hempel, Katrin-Janine Heiliger, et al.
Neuropediatrics|September 11, 2018
A De Novo Missense Variant in POU3F2 Identified in a Child with Global Developmental DelayDominik Sebastian Westphal, Korbinian Maria Riedhammer, Reka Kovacs-Nagy, et al.
Genome Biology|August 8, 2009
Whole genome sequencing of a single Bos taurus animal for single nucleotide polymorphism discoverySebastian H Eck, Anna Benet-Pagès, Krzysztof Flisikowski, et al.
American Journal of Ophthalmology|April 30, 2003
Spondylo-ocular syndrome: a new entity with crystalline lens malformation, cataract, retinal detachment, osteoporosis, and platyspondylyGunther Rudolph, Petros Kalpadakis, Thomas Bettecken, et al.
Plos One|March 4, 2014
Impairment of Drosophila orthologs of the human orphan protein C19orf12 induces bang sensitivity and neurodegenerationArcangela Iuso, Ody C M Sibon, Matteo Gorza, et al.
Biopreservation and Biobanking|May 20, 2014
The role of biobanking in rare diseases: European consensus expert group reportHanns Lochmüller, Ségolène Aymé, Francesca Pampinella, et al.
Clinical Genetics|January 26, 2006
Familial carpal tunnel syndrome: further evidence for a genetic contributionMatthias Elstner, Thomas Bettecken, Maria Wasner, et al.
Neurology. Genetics|November 2, 2020
Biotinidase deficiency: A treatable cause of hereditary spastic paraparesisFlorentine Radelfahr, Korbinian M Riedhammer, Leonie F Keidel, et al.
European Journal of Medical Genetics|January 8, 2011
3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndromeKonrad Oexle, Maja Hempel, Anna Jauch, et al.
Pageof 54