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Showing results (31-40 of 41) with videos related to

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Nature Genetics|December 1, 1993
Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney diseaseD J Peters, L Spruit, J J Saris, et al.
Clinical Genetics|December 21, 2011
What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?J Zhang, X Bao, G Cao, et al.
Journal of Medical Genetics|November 17, 2009
Updating the profile of C-terminal MECP2 deletions in Rett syndromeA Bebbington, A Percy, J Christodoulou, et al.
Translational Psychiatry|June 4, 2014
Towards a molecular characterization of autism spectrum disorders: an exome sequencing and systems approachJ Y An, A S Cristino, Q Zhao, et al.
Human Molecular Genetics|April 18, 2000
Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and locationJ P Cheadle, H Gill, N Fleming, et al.
Neurology|July 13, 2006
Early progressive encephalopathy in boys and MECP2 mutationsP Kankirawatana, H Leonard, C Ellaway, et al.
American Journal of Human Genetics|October 27, 1997
A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2)B Veldhuisen, J J Saris, S de Haij, et al.
Journal of Neurology|November 7, 2002
Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A geneA M J M van den Maagdenberg, E E Kors, E R Brunt, et al.
Kidney International|April 12, 2000
Location of mutations within the PKD2 gene influences clinical outcomeN Hateboer, B Veldhuisen, D Peters, et al.
Journal of Medical Genetics|September 27, 2005
Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patientsH L Archer, S D Whatley, J C Evans, et al.
Pageof 5

Showing results (31-40 of 41) with videos related to

Sort By:
Pageof 5
Nature Genetics|December 1, 1993
Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney diseaseD J Peters, L Spruit, J J Saris, et al.
Clinical Genetics|December 21, 2011
What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?J Zhang, X Bao, G Cao, et al.
Journal of Medical Genetics|November 17, 2009
Updating the profile of C-terminal MECP2 deletions in Rett syndromeA Bebbington, A Percy, J Christodoulou, et al.
Translational Psychiatry|June 4, 2014
Towards a molecular characterization of autism spectrum disorders: an exome sequencing and systems approachJ Y An, A S Cristino, Q Zhao, et al.
Human Molecular Genetics|April 18, 2000
Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and locationJ P Cheadle, H Gill, N Fleming, et al.
Neurology|July 13, 2006
Early progressive encephalopathy in boys and MECP2 mutationsP Kankirawatana, H Leonard, C Ellaway, et al.
American Journal of Human Genetics|October 27, 1997
A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2)B Veldhuisen, J J Saris, S de Haij, et al.
Journal of Neurology|November 7, 2002
Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A geneA M J M van den Maagdenberg, E E Kors, E R Brunt, et al.
Kidney International|April 12, 2000
Location of mutations within the PKD2 gene influences clinical outcomeN Hateboer, B Veldhuisen, D Peters, et al.
Journal of Medical Genetics|September 27, 2005
Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patientsH L Archer, S D Whatley, J C Evans, et al.
Pageof 5