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Herbert A Lubs

Showing results (1-10 of 12) with videos related to

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American Journal of Human Genetics|April 10, 2012
Fragile X and X-linked intellectual disability: four decades of discoveryHerbert A Lubs, Roger E Stevenson, Charles E Schwartz
American Journal of Medical Genetics. Part A|April 27, 2018
X-linked intellectual disability update 2017Giovanni Neri, Charles E Schwartz, Herbert A Lubs, et al.
American Journal of Human Genetics|June 18, 2002
Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disordersRobert M Plenge, Roger A Stevenson, Herbert A Lubs, et al.
American Journal of Human Genetics|March 17, 2004
Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephalyClaus Lenski, Fatima Abidi, Alfons Meindl, et al.
American Journal of Medical Genetics. Part A|February 28, 2003
Shashi XLMR syndrome: report of a second familyNelson H C Castro, Rita C Stocco dos Santos, Retecher Nelson, et al.
Human Molecular Genetics|March 5, 2005
A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptorJuliane Ramser, Fatima E Abidi, Celine A Burckle, et al.
American Journal of Medical Genetics. Part A|April 4, 2003
Stocco dos Santos X-linked mental retardation syndrome: clinical elucidation and localization to Xp11.3-Xq21.3Rita C Stocco dos Santos, Nelson H C Castro, A Lillia Holmes, et al.
European Journal of Human Genetics : EJHG|October 28, 2004
Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndromeFatima E Abidi, Carlos Cardoso, Anne-Marie Lossi, et al.
European Journal of Human Genetics : EJHG|September 26, 2003
X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndromeA Lauren Cason, Yoshihiko Ikeguchi, Cindy Skinner, et al.
American Journal of Human Genetics|March 19, 2002
X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28Kimberly A Hahn, Gajja S Salomons, Darci Tackels-Horne, et al.
Pageof 2

Showing results (1-10 of 12) with videos related to

Sort By:
Pageof 2
American Journal of Human Genetics|April 10, 2012
Fragile X and X-linked intellectual disability: four decades of discoveryHerbert A Lubs, Roger E Stevenson, Charles E Schwartz
American Journal of Medical Genetics. Part A|April 27, 2018
X-linked intellectual disability update 2017Giovanni Neri, Charles E Schwartz, Herbert A Lubs, et al.
American Journal of Human Genetics|June 18, 2002
Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disordersRobert M Plenge, Roger A Stevenson, Herbert A Lubs, et al.
American Journal of Human Genetics|March 17, 2004
Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephalyClaus Lenski, Fatima Abidi, Alfons Meindl, et al.
American Journal of Medical Genetics. Part A|February 28, 2003
Shashi XLMR syndrome: report of a second familyNelson H C Castro, Rita C Stocco dos Santos, Retecher Nelson, et al.
Human Molecular Genetics|March 5, 2005
A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptorJuliane Ramser, Fatima E Abidi, Celine A Burckle, et al.
American Journal of Medical Genetics. Part A|April 4, 2003
Stocco dos Santos X-linked mental retardation syndrome: clinical elucidation and localization to Xp11.3-Xq21.3Rita C Stocco dos Santos, Nelson H C Castro, A Lillia Holmes, et al.
European Journal of Human Genetics : EJHG|October 28, 2004
Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndromeFatima E Abidi, Carlos Cardoso, Anne-Marie Lossi, et al.
European Journal of Human Genetics : EJHG|September 26, 2003
X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndromeA Lauren Cason, Yoshihiko Ikeguchi, Cindy Skinner, et al.
American Journal of Human Genetics|March 19, 2002
X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28Kimberly A Hahn, Gajja S Salomons, Darci Tackels-Horne, et al.
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