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Cornelius F Boerkoel

Showing results (31-40 of 134) with videos related to

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American Journal of Medical Genetics. Part A|March 27, 2014
A cryptic familial rearrangement of 11p15.5, involving both imprinting centers, in a family with a history of short statureLindsay A Brown, Rosemarie Rupps, Maria S Peñaherrera, et al.
American Journal of Medical Genetics. Part A|March 3, 2023
NOTCH1 loss of the TAD and PEST domain: An antimorph?Pierre Boerkoel, Stephanie Huynh, Gui Xiang Yang, et al.
American Journal of Medical Genetics. Part A|January 19, 2006
Schimke immuno-osseous dysplasia: a cell autonomous disorder?Leah I Elizondo, Cheng Huang, Jennifer L Northrop, et al.
American Journal of Medical Genetics. Part A|November 4, 2004
Fatal lymphoproliferative disorder in a child with Schimke immuno-osseous dysplasiaDoris Taha, Cornelius F Boerkoel, John Williamson Balfe, et al.
American Journal of Medical Genetics. Part A|August 7, 2007
Cerebellar atrophy in Schimke-immuno-osseous dysplasiaThomas Lücke, Johanna M Clewing, Cornelius F Boerkoel, et al.
American Journal of Medical Genetics. Part A|May 10, 2005
Schimke-immuno-osseous dysplasia: new mutation with weak genotype-phenotype correlation in siblingsThomas Lücke, Heiko Billing, Emily A Sloan, et al.
American Journal of Medical Genetics. Part A|September 9, 2017
FOXP1 haploinsufficiency: Phenotypes beyond behavior and intellectual disability?Angela Myers, Christèle du Souich, Connie L Yang, et al.
Human Mutation|February 1, 2012
VAR-MD: a tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritanceMurat Sincan, Dimitre R Simeonov, David Adams, et al.
Human Mutation|February 2, 2012
Detecting false-positive signals in exome sequencingKarin V Fuentes Fajardo, David Adams, , et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 6, 2025
Tandem splice acceptor sites: Profiling their relevance to human diseaseFrederick G Frost, Shaopeng Gu, Adrienne Elbert, et al.
Pageof 14

Showing results (31-40 of 134) with videos related to

Sort By:
Pageof 14
American Journal of Medical Genetics. Part A|March 27, 2014
A cryptic familial rearrangement of 11p15.5, involving both imprinting centers, in a family with a history of short statureLindsay A Brown, Rosemarie Rupps, Maria S Peñaherrera, et al.
American Journal of Medical Genetics. Part A|March 3, 2023
NOTCH1 loss of the TAD and PEST domain: An antimorph?Pierre Boerkoel, Stephanie Huynh, Gui Xiang Yang, et al.
American Journal of Medical Genetics. Part A|January 19, 2006
Schimke immuno-osseous dysplasia: a cell autonomous disorder?Leah I Elizondo, Cheng Huang, Jennifer L Northrop, et al.
American Journal of Medical Genetics. Part A|November 4, 2004
Fatal lymphoproliferative disorder in a child with Schimke immuno-osseous dysplasiaDoris Taha, Cornelius F Boerkoel, John Williamson Balfe, et al.
American Journal of Medical Genetics. Part A|August 7, 2007
Cerebellar atrophy in Schimke-immuno-osseous dysplasiaThomas Lücke, Johanna M Clewing, Cornelius F Boerkoel, et al.
American Journal of Medical Genetics. Part A|May 10, 2005
Schimke-immuno-osseous dysplasia: new mutation with weak genotype-phenotype correlation in siblingsThomas Lücke, Heiko Billing, Emily A Sloan, et al.
American Journal of Medical Genetics. Part A|September 9, 2017
FOXP1 haploinsufficiency: Phenotypes beyond behavior and intellectual disability?Angela Myers, Christèle du Souich, Connie L Yang, et al.
Human Mutation|February 1, 2012
VAR-MD: a tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritanceMurat Sincan, Dimitre R Simeonov, David Adams, et al.
Human Mutation|February 2, 2012
Detecting false-positive signals in exome sequencingKarin V Fuentes Fajardo, David Adams, , et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 6, 2025
Tandem splice acceptor sites: Profiling their relevance to human diseaseFrederick G Frost, Shaopeng Gu, Adrienne Elbert, et al.
Pageof 14