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John M Graham

Showing results (151-160 of 208) with videos related to

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Prenatal Diagnosis|August 26, 2023
Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletionsCourtney P Verscaj, Frances Velez-Bartolomei, Ethan Bodle, et al.
American Journal of Medical Genetics|October 3, 2002
The mutational spectrum of brachydactyly type CDavid B Everman, Cynthia F Bartels, Yue Yang, et al.
Annals of Clinical and Translational Neurology|January 19, 2019
Novel pathogenic <i>COX20</i> variants causing dysarthria, ataxia, and sensory neuropathyMaria G Otero, Emmanuelle Tiongson, Frank Diaz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 30, 2026
Evidence-based classification of genes implicated in craniosynostosis disorders using the ClinGen curation frameworkEnyonam Edoh, Chloe Mighton, Eleanor Broeren, et al.
Nature Genetics|August 21, 2007
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2Blake C Ballif, Sara A Hornor, Elizabeth Jenkins, et al.
Brain : a Journal of Neurology|September 11, 2019
De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizuresSusanne Horn, Margaret Au, Lina Basel-Salmon, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 14, 2003
Klinefelter syndrome: expanding the phenotype and identifying new research directionsJoe Leigh Simpson, Felix de la Cruz, Ronald S Swerdloff, et al.
American Journal of Medical Genetics. Part A|November 15, 2007
Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patientsRobert L Conway, Barry D Pressman, William B Dobyns, et al.
Clinical Genetics|July 9, 2021
A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statementSofia Douzgou, Myfanwy Rawson, Eulalia Baselga, et al.
American Journal of Human Genetics|January 10, 2006
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlationSeema R Lalani, Arsalan M Safiullah, Susan D Fernbach, et al.
Pageof 21

Showing results (151-160 of 208) with videos related to

Sort By:
Pageof 21
Prenatal Diagnosis|August 26, 2023
Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletionsCourtney P Verscaj, Frances Velez-Bartolomei, Ethan Bodle, et al.
American Journal of Medical Genetics|October 3, 2002
The mutational spectrum of brachydactyly type CDavid B Everman, Cynthia F Bartels, Yue Yang, et al.
Annals of Clinical and Translational Neurology|January 19, 2019
Novel pathogenic <i>COX20</i> variants causing dysarthria, ataxia, and sensory neuropathyMaria G Otero, Emmanuelle Tiongson, Frank Diaz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 30, 2026
Evidence-based classification of genes implicated in craniosynostosis disorders using the ClinGen curation frameworkEnyonam Edoh, Chloe Mighton, Eleanor Broeren, et al.
Nature Genetics|August 21, 2007
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2Blake C Ballif, Sara A Hornor, Elizabeth Jenkins, et al.
Brain : a Journal of Neurology|September 11, 2019
De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizuresSusanne Horn, Margaret Au, Lina Basel-Salmon, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 14, 2003
Klinefelter syndrome: expanding the phenotype and identifying new research directionsJoe Leigh Simpson, Felix de la Cruz, Ronald S Swerdloff, et al.
American Journal of Medical Genetics. Part A|November 15, 2007
Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patientsRobert L Conway, Barry D Pressman, William B Dobyns, et al.
Clinical Genetics|July 9, 2021
A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statementSofia Douzgou, Myfanwy Rawson, Eulalia Baselga, et al.
American Journal of Human Genetics|January 10, 2006
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlationSeema R Lalani, Arsalan M Safiullah, Susan D Fernbach, et al.
Pageof 21