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Angela E Lin

Showing results (141-150 of 170) with videos related to

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American Journal of Medical Genetics. Part A|April 17, 2008
Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007Katherine A Rauen, Erin Hefner, Kristin Carrillo, et al.
American Journal of Medical Genetics. Part A|August 17, 2019
Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior yearsAngela E Lin, Siddharth K Prakash, Niels H Andersen, et al.
American Journal of Medical Genetics. Part A|February 24, 2011
Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndromeAngela E Lin, Mark E Alexander, Steven D Colan, et al.
Cell Genomics|January 8, 2024
The human Y and inactive X chromosomes similarly modulate autosomal gene expressionAdrianna K San Roman, Helen Skaletsky, Alexander K Godfrey, et al.
Biorxiv : the Preprint Server for Biology|June 19, 2023
The human Y and inactive X chromosomes similarly modulate autosomal gene expressionAdrianna K San Roman, Helen Skaletsky, Alexander K Godfrey, et al.
Neurology|July 8, 2018
FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutationKarlien Mul, Richard J L F Lemmers, Marjolein Kriek, et al.
American Journal of Medical Genetics. Part A|April 30, 2015
Proceedings from the Turner Resource Network symposium: the crossroads of health care research and health care deliveryPhilippe F Backeljauw, Carolyn Bondy, Steven D Chernausek, et al.
European Journal of Human Genetics : EJHG|May 2, 2013
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorderSureni V Mullegama, Jill A Rosenfeld, Carmen Orellana, et al.
American Journal of Medical Genetics. Part A|February 4, 2005
Further delineation of Kabuki syndrome in 48 well-defined new individualsLinlea Armstrong, Azza Abd El Moneim, Kirk Aleck, et al.
Journal of Human Genetics|April 20, 2021
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analysesAnna Hammarsjö, Maria Pettersson, David Chitayat, et al.
Pageof 17

Showing results (141-150 of 170) with videos related to

Sort By:
Pageof 17
American Journal of Medical Genetics. Part A|April 17, 2008
Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007Katherine A Rauen, Erin Hefner, Kristin Carrillo, et al.
American Journal of Medical Genetics. Part A|August 17, 2019
Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior yearsAngela E Lin, Siddharth K Prakash, Niels H Andersen, et al.
American Journal of Medical Genetics. Part A|February 24, 2011
Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndromeAngela E Lin, Mark E Alexander, Steven D Colan, et al.
Cell Genomics|January 8, 2024
The human Y and inactive X chromosomes similarly modulate autosomal gene expressionAdrianna K San Roman, Helen Skaletsky, Alexander K Godfrey, et al.
Biorxiv : the Preprint Server for Biology|June 19, 2023
The human Y and inactive X chromosomes similarly modulate autosomal gene expressionAdrianna K San Roman, Helen Skaletsky, Alexander K Godfrey, et al.
Neurology|July 8, 2018
FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutationKarlien Mul, Richard J L F Lemmers, Marjolein Kriek, et al.
American Journal of Medical Genetics. Part A|April 30, 2015
Proceedings from the Turner Resource Network symposium: the crossroads of health care research and health care deliveryPhilippe F Backeljauw, Carolyn Bondy, Steven D Chernausek, et al.
European Journal of Human Genetics : EJHG|May 2, 2013
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorderSureni V Mullegama, Jill A Rosenfeld, Carmen Orellana, et al.
American Journal of Medical Genetics. Part A|February 4, 2005
Further delineation of Kabuki syndrome in 48 well-defined new individualsLinlea Armstrong, Azza Abd El Moneim, Kirk Aleck, et al.
Journal of Human Genetics|April 20, 2021
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analysesAnna Hammarsjö, Maria Pettersson, David Chitayat, et al.
Pageof 17