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Christian Windpassinger

Showing results (31-40 of 69) with videos related to

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Biochemical and Biophysical Research Communications|July 22, 2014
Characterization of rat serum amyloid A4 (SAA4): a novel member of the SAA superfamilyChristine Rossmann, Christian Windpassinger, Daniela Brunner, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|December 17, 2008
Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18qJohn B Vincent, Abdul Noor, Christian Windpassinger, et al.
JPMA. the Journal of the Pakistan Medical Association|December 20, 2019
Genetic study of Khyber-Pukhtunkhwa resident Pakistani families presenting primary microcephaly with intellectual disabilityJamshaid Ahmed, Christian Windpassinger, Muhammad Salim, et al.
Schizophrenia Research|July 24, 2007
Molecular analysis of a chromosome 4 inversion segregating in a large schizophrenia kindred from Hong KongAlbert K Mensah, Vincenzo De Luca, Beata Stachowiak, et al.
Metabolic Brain Disease|November 1, 2021
A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani familyMuhammad Muzammal, Muhammad Zeeshan Ali, Beatrice Brugger, et al.
American Journal of Human Genetics|April 5, 2008
CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosaAbdul Noor, Christian Windpassinger, Megha Patel, et al.
Neurogenetics|December 26, 2025
Mutation screening of the ASPM gene in multiple Pashtun origin MCPH families revealed the recurrent nonsense mutation p.Trp1326*: A step towards the development of a genetic diagnostic testHamna Batool Hashmi, Muhammad Muzammal, Aiman Saleem, et al.
American Journal of Human Genetics|January 9, 2008
An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1Christian Windpassinger, Benedikt Schoser, Volker Straub, et al.
Annals of Neurology|February 26, 2005
Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutationMichaela Auer-Grumbach, Beate Schlotter-Weigel, Hanns Lochmüller, et al.
European Journal of Human Genetics : EJHG|March 5, 2009
Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutationsGabriel Miltenberger-Miltenyi, Thomas Schwarzbraun, Wolfgang N Löscher, et al.
Pageof 7

Showing results (31-40 of 69) with videos related to

Sort By:
Pageof 7
Biochemical and Biophysical Research Communications|July 22, 2014
Characterization of rat serum amyloid A4 (SAA4): a novel member of the SAA superfamilyChristine Rossmann, Christian Windpassinger, Daniela Brunner, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|December 17, 2008
Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18qJohn B Vincent, Abdul Noor, Christian Windpassinger, et al.
JPMA. the Journal of the Pakistan Medical Association|December 20, 2019
Genetic study of Khyber-Pukhtunkhwa resident Pakistani families presenting primary microcephaly with intellectual disabilityJamshaid Ahmed, Christian Windpassinger, Muhammad Salim, et al.
Schizophrenia Research|July 24, 2007
Molecular analysis of a chromosome 4 inversion segregating in a large schizophrenia kindred from Hong KongAlbert K Mensah, Vincenzo De Luca, Beata Stachowiak, et al.
Metabolic Brain Disease|November 1, 2021
A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani familyMuhammad Muzammal, Muhammad Zeeshan Ali, Beatrice Brugger, et al.
American Journal of Human Genetics|April 5, 2008
CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosaAbdul Noor, Christian Windpassinger, Megha Patel, et al.
Neurogenetics|December 26, 2025
Mutation screening of the ASPM gene in multiple Pashtun origin MCPH families revealed the recurrent nonsense mutation p.Trp1326*: A step towards the development of a genetic diagnostic testHamna Batool Hashmi, Muhammad Muzammal, Aiman Saleem, et al.
American Journal of Human Genetics|January 9, 2008
An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1Christian Windpassinger, Benedikt Schoser, Volker Straub, et al.
Annals of Neurology|February 26, 2005
Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutationMichaela Auer-Grumbach, Beate Schlotter-Weigel, Hanns Lochmüller, et al.
European Journal of Human Genetics : EJHG|March 5, 2009
Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutationsGabriel Miltenberger-Miltenyi, Thomas Schwarzbraun, Wolfgang N Löscher, et al.
Pageof 7