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Showing results (421-430 of 426) with videos related to

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Journal of Medical Genetics|September 20, 2005
Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human developmentD Sanlaville, H C Etchevers, M Gonzales, et al.
Journal of Medical Genetics|October 26, 2010
A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiencyA S Lebre, M Rio, L Faivre d'Arcier, et al.
Journal of Medical Genetics|October 30, 2007
Hirschsprung disease, associated syndromes and genetics: a reviewJ Amiel, E Sproat-Emison, M Garcia-Barcelo, et al.
Nature Genetics|March 10, 2001
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signalingR Döffinger, A Smahi, C Bessia, et al.
Journal of Medical Genetics|December 20, 2011
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial featuresAnna-Maja Molin, J Andrieux, D A Koolen, et al.
Journal of Medical Genetics|May 7, 2013
Phenotype and genotype in 101 males with X-linked creatine transporter deficiencyJ M van de Kamp, O T Betsalel, S Mercimek-Mahmutoglu, et al.
Pageof 43

Showing results (421-430 of 426) with videos related to

Sort By:
Pageof 43
You have reached the last page of results.This site can display upto 426 results.
Journal of Medical Genetics|September 20, 2005
Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human developmentD Sanlaville, H C Etchevers, M Gonzales, et al.
Journal of Medical Genetics|October 26, 2010
A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiencyA S Lebre, M Rio, L Faivre d'Arcier, et al.
Journal of Medical Genetics|October 30, 2007
Hirschsprung disease, associated syndromes and genetics: a reviewJ Amiel, E Sproat-Emison, M Garcia-Barcelo, et al.
Nature Genetics|March 10, 2001
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signalingR Döffinger, A Smahi, C Bessia, et al.
Journal of Medical Genetics|December 20, 2011
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial featuresAnna-Maja Molin, J Andrieux, D A Koolen, et al.
Journal of Medical Genetics|May 7, 2013
Phenotype and genotype in 101 males with X-linked creatine transporter deficiencyJ M van de Kamp, O T Betsalel, S Mercimek-Mahmutoglu, et al.
Pageof 43