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J Schroer

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

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American Journal of Human Genetics|November 18, 2008
Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disabilityKavita Bhalla, Yue Luo, Tim Buchan, et al.
American Journal of Medical Genetics. Part A|October 16, 2010
Natural history of Christianson syndromeRichard J Schroer, Kenton R Holden, Patrick S Tarpey, 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.
American Journal of Medical Genetics. Part A|September 25, 2004
A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3AYong-Hui Jiang, Trilochan Sahoo, Ron C Michaelis, et al.
European Journal of Human Genetics : EJHG|August 16, 2012
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disordersLuigi Boccuto, Maria Lauri, Sara M Sarasua, et al.
Molecular Genetics and Metabolism|November 28, 2006
Expanded newborn screening identifies maternal primary carnitine deficiencyLisa A Schimmenti, Eric A Crombez, Bernd C Schwahn, et al.
American Journal of Human Genetics|December 31, 2005
Epimerase-deficiency galactosemia is not a binary conditionKimberly K Openo, Jenny M Schulz, Claudia A Vargas, et al.
American Journal of Medical Genetics. Part A|December 5, 2012
Clinical utility of the X-chromosome arrayYuri A Zarate, Alka Dwivedi, Frank O Bartel, et al.
JCI Insight|July 30, 2024
Missense variants in CMS22 patients reveal that PREPL has both enzymatic and nonenzymatic functionsYenthe Monnens, Anastasia Theodoropoulou, Karen Rosier, et al.
Nature Genetics|February 19, 2008
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizuresAndrew J Sharp, Heather C Mefford, Kelly Li, et al.
Pageof 5

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

Sort By:
Pageof 5
American Journal of Human Genetics|November 18, 2008
Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disabilityKavita Bhalla, Yue Luo, Tim Buchan, et al.
American Journal of Medical Genetics. Part A|October 16, 2010
Natural history of Christianson syndromeRichard J Schroer, Kenton R Holden, Patrick S Tarpey, 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.
American Journal of Medical Genetics. Part A|September 25, 2004
A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3AYong-Hui Jiang, Trilochan Sahoo, Ron C Michaelis, et al.
European Journal of Human Genetics : EJHG|August 16, 2012
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disordersLuigi Boccuto, Maria Lauri, Sara M Sarasua, et al.
Molecular Genetics and Metabolism|November 28, 2006
Expanded newborn screening identifies maternal primary carnitine deficiencyLisa A Schimmenti, Eric A Crombez, Bernd C Schwahn, et al.
American Journal of Human Genetics|December 31, 2005
Epimerase-deficiency galactosemia is not a binary conditionKimberly K Openo, Jenny M Schulz, Claudia A Vargas, et al.
American Journal of Medical Genetics. Part A|December 5, 2012
Clinical utility of the X-chromosome arrayYuri A Zarate, Alka Dwivedi, Frank O Bartel, et al.
JCI Insight|July 30, 2024
Missense variants in CMS22 patients reveal that PREPL has both enzymatic and nonenzymatic functionsYenthe Monnens, Anastasia Theodoropoulou, Karen Rosier, et al.
Nature Genetics|February 19, 2008
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizuresAndrew J Sharp, Heather C Mefford, Kelly Li, et al.
Pageof 5