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Editorial on the Paper "The Epidemiology and Genetics of Hyperuricemia and Gout across Major Racial Groups: A Literature Review and Population Genetics Secondary Database Analysis" by Butler, Alghoubayshi and Roman.
Published in:
2022
By:
- Zahir, Farah R.
Publication type:
Editorial
Recent Major Transcriptomics and Epitranscriptomics Contributions toward Personalized and Precision Medicine.
Published in:
Journal of Personalized Medicine, 2022, v. 12, n. 2, p. N.PAG, doi. 10.3390/jpm12020199
By:
- Mubarak, Ghada;
- Zahir, Farah R.
Publication type:
Article
The Need for Precision Therapies as Determined by Genetic Signature for Cystic Fibrosis.
Published in:
Journal of Personalized Medicine, 2021, v. 11, n. 12, p. 1353, doi. 10.3390/jpm11121353
By:
- Zahir, Farah R.
Publication type:
Article
Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changes.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2916, doi. 10.1002/ajmg.a.37669
By:
- Zahir, Farah R.;
- Tucker, Tracy;
- Mayo, Sonia;
- Brown, Carolyn J.;
- Lim, Emilia L.;
- Taylor, Jonathan;
- Marra, Marco A.;
- Hamdan, Fadi F.;
- Michaud, Jacques L.;
- Friedman, Jan M.
Publication type:
Article
Book Review.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1203, doi. 10.1002/ajmg.a.35750
By:
- Zahir, Farah R.
Publication type:
Article
Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2606, doi. 10.1002/ajmg.a.35568
By:
- Tsang, Erica;
- Rupps, Rosemarie;
- McGillivray, Barbara;
- Eydoux, Patrice;
- Marra, Marco;
- Arbour, Laura;
- Langlois, Sylvie;
- Friedman, Jan M.;
- Zahir, Farah R.
Publication type:
Article
Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 6, p. 792, doi. 10.1038/ejhg.2013.248
By:
- Tucker, Tracy;
- Zahir, Farah R;
- Griffith, Malachi;
- Delaney, Allen;
- Chai, David;
- Tsang, Erica;
- Lemyre, Emmanuelle;
- Dobrzeniecka, Sylvia;
- Marra, Marco;
- Eydoux, Patrice;
- Langlois, Sylvie;
- Hamdan, Fadi F;
- Michaud, Jacques L;
- Friedman, Jan M
Publication type:
Article
Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability.
Published in:
BMC Genomics, 2017, v. 18, p. 1, doi. 10.1186/s12864-017-3671-0
By:
- Zahir, Farah R.;
- Mwenifumbo, Jill C.;
- Chun, Hye-Jung E.;
- Lim, Emilia L.;
- Van Karnebeek, Clara D. M.;
- Couse, Madeline;
- Mungall, Karen L.;
- Lee, Leora;
- Makela, Nancy;
- Armstrong, Linlea;
- Boerkoel, Cornelius F.;
- Langlois, Sylvie L.;
- McGillivray, Barbara M.;
- Jones, Steven J. M.;
- Friedman, Jan M.;
- Marra, Marco A.
Publication type:
Article
De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 10, p. N.PAG, doi. 10.1002/mgg3.961
By:
- Tarailo‐Graovac, Maja;
- Zahir, Farah R.;
- Zivkovic, Irena;
- Moksa, Michelle;
- Selby, Kathryn;
- Sinha, Sunita;
- Nislow, Corey;
- Stockler‐Ipsiroglu, Sylvia G.;
- Sheffer, Ruth;
- Saada‐Reisch, Ann;
- Friedman, Jan M.;
- Karnebeek, Clara D. M.;
- Horvath, Gabriella A.
Publication type:
Article

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