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A Munnich

Showing results (351-360 of 426) with videos related to

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American Journal of Human Genetics|April 17, 2007
Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromesN Dagoneau, S Bellais, P Blanchet, et al.
European Journal of Human Genetics : EJHG|July 1, 1997
Endothelin-3 gene mutations in isolated and syndromic Hirschsprung diseaseC Bidaud, R Salomon, G Van Camp, et al.
Annales De Genetique|August 6, 1999
Linkage analysis of 5 novel van der Woude syndrome kindreds to 1q32-q41 markers further supports locus homogeneity of the disease traitC Houdayer, V Soupre, M Rosenberg-Bourgin, et al.
Human Molecular Genetics|August 11, 1999
Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephalyS Odent, T Atti-Bitach, M Blayau, et al.
American Journal of Medical Genetics|November 7, 1998
Ebstein anomaly associated with rearrangements of chromosomal region 11qP de Lonlay-Debeney, M C de Blois, D Bonnet, et al.
Clinical Genetics|July 4, 2006
Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndromeC Badens, C Lacoste, N Philip, et al.
Journal of Medical Genetics|January 15, 2003
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndromeL Faivre, R J Gorlin, M K Wirtz, et al.
Cell Death and Differentiation|May 22, 2010
Calcium signalling-dependent mitochondrial dysfunction and bioenergetics regulation in respiratory chain Complex II deficiencyE Mbaya, B Oulès, C Caspersen, et al.
Clinical Genetics|May 8, 2010
Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneityC Jung, N Dagoneau, G Baujat, et al.
Human Molecular Genetics|October 9, 2001
A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutationsS Aradhya, H Woffendin, T Jakins, et al.
Pageof 43

Showing results (351-360 of 426) with videos related to

Sort By:
Pageof 43
American Journal of Human Genetics|April 17, 2007
Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromesN Dagoneau, S Bellais, P Blanchet, et al.
European Journal of Human Genetics : EJHG|July 1, 1997
Endothelin-3 gene mutations in isolated and syndromic Hirschsprung diseaseC Bidaud, R Salomon, G Van Camp, et al.
Annales De Genetique|August 6, 1999
Linkage analysis of 5 novel van der Woude syndrome kindreds to 1q32-q41 markers further supports locus homogeneity of the disease traitC Houdayer, V Soupre, M Rosenberg-Bourgin, et al.
Human Molecular Genetics|August 11, 1999
Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephalyS Odent, T Atti-Bitach, M Blayau, et al.
American Journal of Medical Genetics|November 7, 1998
Ebstein anomaly associated with rearrangements of chromosomal region 11qP de Lonlay-Debeney, M C de Blois, D Bonnet, et al.
Clinical Genetics|July 4, 2006
Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndromeC Badens, C Lacoste, N Philip, et al.
Journal of Medical Genetics|January 15, 2003
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndromeL Faivre, R J Gorlin, M K Wirtz, et al.
Cell Death and Differentiation|May 22, 2010
Calcium signalling-dependent mitochondrial dysfunction and bioenergetics regulation in respiratory chain Complex II deficiencyE Mbaya, B Oulès, C Caspersen, et al.
Clinical Genetics|May 8, 2010
Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneityC Jung, N Dagoneau, G Baujat, et al.
Human Molecular Genetics|October 9, 2001
A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutationsS Aradhya, H Woffendin, T Jakins, et al.
Pageof 43