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Showing results (101-110 of 106) with videos related to

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Brain & Development|December 12, 2001
MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved regionM Vacca, F Filippini, A Budillon, et al.
Clinical Genetics|September 17, 2013
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of casesC Fallerini, L Dosa, R Tita, et al.
Clinical Genetics|August 2, 2011
Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1BC Halgren, S Kjaergaard, M Bak, et al.
American Journal of Medical Genetics. Part A|February 14, 2009
Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literatureL Garavelli, M Zollino, P Cerruti Mainardi, et al.
European Journal of Medical Genetics|April 24, 2012
Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardationE K Bijlsma, A Collins, F T Papa, et al.
Genetics in Medicine Open|December 13, 2024
<i>ARID1B</i>-related disorder in 87 adults: Natural history and self-sustainabilityP J van der Sluijs, M Gösgens, A J M Dingemans, et al.
Pageof 11

Showing results (101-110 of 106) with videos related to

Sort By:
Pageof 11
You have reached the last page of results.This site can display upto 106 results.
Brain & Development|December 12, 2001
MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved regionM Vacca, F Filippini, A Budillon, et al.
Clinical Genetics|September 17, 2013
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of casesC Fallerini, L Dosa, R Tita, et al.
Clinical Genetics|August 2, 2011
Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1BC Halgren, S Kjaergaard, M Bak, et al.
American Journal of Medical Genetics. Part A|February 14, 2009
Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literatureL Garavelli, M Zollino, P Cerruti Mainardi, et al.
European Journal of Medical Genetics|April 24, 2012
Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardationE K Bijlsma, A Collins, F T Papa, et al.
Genetics in Medicine Open|December 13, 2024
<i>ARID1B</i>-related disorder in 87 adults: Natural history and self-sustainabilityP J van der Sluijs, M Gösgens, A J M Dingemans, et al.
Pageof 11