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Physician Experience with Direct-To-Consumer Genetic Testing in Kaiser Permanente.
Published in:
Journal of Personalized Medicine, 2019, v. 9, n. 4, p. 47, doi. 10.3390/jpm9040047
By:
- Jonas, M. Cabell;
- Suwannarat, Pim;
- Burnett-Hartman, Andrea;
- Carroll, Nikki;
- Turner, Michelle;
- Janes, Kristen;
- Truong, Christine;
- Blum-Barnett, Erica;
- Aziz, Nazneen;
- McGlynn, Elizabeth A.
Publication type:
Article
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.
Published in:
PLoS Biology, 2019, v. 17, n. 4, p. 1, doi. 10.1371/journal.pbio.3000194
By:
- Ingham, Neil J.;
- Pearson, Selina A.;
- Vancollie, Valerie E.;
- Rook, Victoria;
- Lewis, Morag A.;
- Chen, Jing;
- Buniello, Annalisa;
- Martelletti, Elisa;
- Preite, Lorenzo;
- Lam, Chi Chung;
- Weiss, Felix D.;
- Powis, Zӧe;
- Suwannarat, Pim;
- Lelliott, Christopher J.;
- Dawson, Sally J.;
- White, Jacqueline K.;
- Steel, Karen P.
Publication type:
Article
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.
Published in:
PLoS Biology, 2019, v. 17, n. 4, p. 1, doi. 10.1371/journal.pbio.3000194
By:
- Ingham, Neil J.;
- Pearson, Selina A.;
- Vancollie, Valerie E.;
- Rook, Victoria;
- Lewis, Morag A.;
- Chen, Jing;
- Buniello, Annalisa;
- Martelletti, Elisa;
- Preite, Lorenzo;
- Lam, Chi Chung;
- Weiss, Felix D.;
- Powis, Zӧe;
- Suwannarat, Pim;
- Lelliott, Christopher J.;
- Dawson, Sally J.;
- White, Jacqueline K.;
- Steel, Karen P.
Publication type:
Article
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.
Published in:
Epilepsia (Series 4), 2021, v. 62, n. 7, p. e103, doi. 10.1111/epi.16931
By:
- Ernst, Michelle E.;
- Baugh, Evan H.;
- Thomas, Amanda;
- Bier, Louise;
- Lippa, Natalie;
- Stong, Nicholas;
- Mulhern, Maureen S.;
- Kushary, Sulagna;
- Akman, Cigdem I.;
- Heinzen, Erin L.;
- Yeh, Raymond;
- Bi, Weimin;
- Hanchard, Neil A.;
- Burrage, Lindsay C.;
- Leduc, Magalie S.;
- Chong, Josephine S. C.;
- Bend, Renee;
- Lyons, Michael J.;
- Lee, Jennifer A.;
- Suwannarat, Pim
Publication type:
Article
Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.
Published in:
2021
By:
- Thuy-Linh Le;
- Galmiche, Louise;
- Levy, Jonathan;
- Suwannarat, Pim;
- Hellebrekers, Debby M. E. I.;
- Morarach, Khomgrit;
- Boismoreau, Franck;
- Theunissen, Tom E. J.;
- Lefebvre, Mathilde;
- Pelet, Anna;
- Martinovic, Jelena;
- Gelot, Antoinette;
- Guimiot, Fabien;
- Calleroz, Amanda;
- Gitiaux, Cyril;
- Hully, Marie;
- Goulet, Olivier;
- Chardot, Christophe;
- Drunat, Severine;
- Capri, Yline
Publication type:
journal article
Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13 mutations among Thai infants.
Published in:
2012
By:
- Treepongkaruna, Suporn;
- Jitraruch, Suttiruk;
- Kodcharin, Porawee;
- Charoenpipop, Dussadee;
- Suwannarat, Pim;
- Pienvichit, Paneeya;
- Kobayashi, Keiko;
- Wattanasirichaigoon, Duangrurdee
Publication type:
journal article
Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13 mutations among thai infants.
Published in:
BMC Gastroenterology, 2012, v. 12, n. 1, p. 141, doi. 10.1186/1471-230X-12-141
By:
- Treepongkaruna, Suporn;
- Jitraruch, Suttiruk;
- Kodcharin, Porawee;
- Charoenpipop, Dussadee;
- Suwannarat, Pim;
- Pienvichit, Paneeya;
- Kobayashi, Keiko;
- Wattanasirichaigoon, Duangrurdee
Publication type:
Article
Mutation spectrum of homogentisic acid oxidase ( HGD) in alkaptonuria.
Published in:
2009
By:
- Vilboux, Thierry;
- Kayser, Michael;
- Introne, Wendy;
- Suwannarat, Pim;
- Bernardini, Isa;
- Fischer, Roxanne;
- O'Brien, Kevin;
- Kleta, Robert;
- Huizing, Marjan;
- Gahl, William A.
Publication type:
Other

Found: 8