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John M Graham

Showing results (141-150 of 208) with videos related to

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American Journal of Medical Genetics. Part A|June 4, 2021
Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypesFilomena Pirozzi, Benson Lee, Nicole Horsley, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 26, 2009
FG syndrome, an X-linked multiple congenital anomaly syndrome: the clinical phenotype and an algorithm for diagnostic testingRobin Dawn Clark, John M Graham, Michael J Friez, et al.
American Journal of Medical Genetics. Part A|November 1, 2008
Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 geneJohn M Graham, Jeannie Visootsak, Elisabeth Dykens, et al.
Nature Genetics|March 6, 2007
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndromeHiba Risheg, John M Graham, Robin D Clark, et al.
Teratology|December 18, 2002
Statement of the Public Affairs Committee of the Teratology Society on the fetal alcohol syndromeJane Adams, Patricia Bittner, Harpal S Buttar, et al.
American Journal of Medical Genetics. Part A|April 30, 2015
Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillanceBianca Russell, Jennifer J Johnston, Leslie G Biesecker, et al.
American Journal of Medical Genetics. Part A|April 4, 2003
Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletionsSeema R Lalani, David W Stockton, Carlos Bacino, et al.
Neurogenetics|May 2, 2019
A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activityDavid B Beck, T Subramanian, S Vijayalingam, et al.
American Journal of Medical Genetics. Part A|March 30, 2021
Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndromeClara C Hildebrandt, Nisha Patel, John M Graham, et al.
American Journal of Medical Genetics. Part A|May 7, 2011
Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25Deepika D'Cunha Burkardt, Jill A Rosenfeld, Maria L Helgeson, et al.
Pageof 21

Showing results (141-150 of 208) with videos related to

Sort By:
Pageof 21
American Journal of Medical Genetics. Part A|June 4, 2021
Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypesFilomena Pirozzi, Benson Lee, Nicole Horsley, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 26, 2009
FG syndrome, an X-linked multiple congenital anomaly syndrome: the clinical phenotype and an algorithm for diagnostic testingRobin Dawn Clark, John M Graham, Michael J Friez, et al.
American Journal of Medical Genetics. Part A|November 1, 2008
Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 geneJohn M Graham, Jeannie Visootsak, Elisabeth Dykens, et al.
Nature Genetics|March 6, 2007
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndromeHiba Risheg, John M Graham, Robin D Clark, et al.
Teratology|December 18, 2002
Statement of the Public Affairs Committee of the Teratology Society on the fetal alcohol syndromeJane Adams, Patricia Bittner, Harpal S Buttar, et al.
American Journal of Medical Genetics. Part A|April 30, 2015
Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillanceBianca Russell, Jennifer J Johnston, Leslie G Biesecker, et al.
American Journal of Medical Genetics. Part A|April 4, 2003
Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletionsSeema R Lalani, David W Stockton, Carlos Bacino, et al.
Neurogenetics|May 2, 2019
A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activityDavid B Beck, T Subramanian, S Vijayalingam, et al.
American Journal of Medical Genetics. Part A|March 30, 2021
Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndromeClara C Hildebrandt, Nisha Patel, John M Graham, et al.
American Journal of Medical Genetics. Part A|May 7, 2011
Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25Deepika D'Cunha Burkardt, Jill A Rosenfeld, Maria L Helgeson, et al.
Pageof 21